query: blue baby syndrome disease is caused due to

pos: Blue baby syndrome Blue baby syndrome Blue baby syndrome refers to at least two situations that lead to cyanosis in infants: congenital cyanotic heart diseases, and nitrate contaminants from drinking water leading to methemoglobinemia. A number of cardiovascular defects may lead to Blue baby syndrome. The most common cyanotic heart defects include the following: The most common cause of blue baby syndrome, and the one which was the subject of the classic "blue baby operation" developed at Johns Hopkins in the 1940s, is tetralogy of Fallot. In the normal heart, there are four separate chambers; the two top chambers, or atria, pump blood

pos: Blue baby syndrome baby syndrome can also be caused by nitrates in drinking water leading to methemoglobinemia. Nitrates from polluted drinking water form compounds in the body that change haemoglobin to methemoglobin, decreasing the ability of blood to carry oxygen. In infants, the condition can be fatal. The sources of nitrate can include fertilizers used in agricultural lands, waste dumps or pit latrines. For example, cases of blue baby syndrome have been reported in villages in Romania and Bulgaria, and were thought to be caused by groundwater polluted by nitrate leaching from pit latrines. Nitrate levels are subject to monitoring to comply with

pos: Blue baby syndrome Blue baby syndrome Blue baby syndrome refers to at least two situations that lead to cyanosis in infants: congenital cyanotic heart diseases, and nitrate contaminants from drinking water leading to methemoglobinemia. A number of cardiovascular defects may lead to Blue baby syndrome. The most common cyanotic heart defects include the following: The most common cause of blue baby syndrome, and the one which was the subject of the classic "blue baby operation" developed at Johns Hopkins in the 1940s, is tetralogy of Fallot. In the normal heart, there are four separate chambers; the two top chambers, or atria, pump blood

pos: Blue baby syndrome unmonitored, can have higher levels of nitrates, being hazardous to the infants. The link between blue baby syndrome in infants and high nitrate levels is well established for waters exceeding the normal limit of 10 mg/L. However, there is also evidence that breastfeeding is protective in exposed populations. Many laboratories will provide a water test free of charge. Blue baby syndrome Blue baby syndrome refers to at least two situations that lead to cyanosis in infants: congenital cyanotic heart diseases, and nitrate contaminants from drinking water leading to methemoglobinemia. A number of cardiovascular defects may lead to Blue baby syndrome.

pos: Blue baby syndrome drinking water quality standards in the United States and other countries. The link between blue baby syndrome and nitrates in drinking water is widely accepted, but some studies indicate that other contaminants, or dietary nitrate sources, may also play a role in the syndrome. Other insults in neonates, such as respiratory distress syndrome, can also produce a "blue baby syndrome". Like methemoglobinemia, these are not structural lesions and are not regarded by most doctors as true "cyanotic lesions." ‘Blue Baby’ syndrome has two main symptoms which are easy to pick up if you know what you are looking for. The

pos: Groundwater pollution groundwater and aquifers. In some low-income countries nitrate levels in groundwater are extremely high, causing significant health problems. It is also stable (it does not degrade) under high oxygen conditions. Nitrate levels above 10 mg/L (10 ppm) in groundwater can cause "blue baby syndrome" (acquired methemoglobinemia). Drinking water quality standards in the European Union stipulate less than 50 mg/L for nitrate in drinking water. However, the linkages between nitrates in drinking water and blue baby syndrome have been disputed in other studies. The syndrome outbreaks might be due to other factors than elevated nitrate concentrations in drinking water. Elevated nitrate

neg: Blue diaper syndrome Blue diaper syndrome Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia. It is caused by a defect in tryptophan absorption. Bacterial degradation of unabsorbed tryptophan in the intestine leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper (indoluria). Symptoms typically include digestive disturbances, fever and visual problems. Some may also develop disease due to the incomplete breakdown of tryptophan. It was characterized in 1964, and is associated with

neg: Lamellar ichthyosis or congenital ichthyosiform erythrodema). In around 10% of cases the baby sheds this layer of skin and has normal skin for the rest of its life. This is known as "self-healing collodion baby". The remaining 15% of cases are caused by a variety of diseases involving keratinization disorders. Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. Less well documented causes include Sjögren-Larsson syndrome, Netherton syndrome, Gaucher disease type 2, congenital hypothyroidism, Conradi syndrome, Dorfman-Chanarin syndrome, ketoadipiaciduria, koraxitrachitic syndrome, ichthyosis variegata and palmoplantar keratoderma with anogenital leukokeratosis. Since many of these conditions have an autosomal recessive inheritance pattern, they

neg: Blue rubber bleb nevus syndrome indicates that any race can be affected by BRBNS. Blue rubber bleb nevus syndrome Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract. The disease is characterized by the presence of fluid-filled blisters (blebs) as visible, circumscribed, chronic lesions (nevus). It was described by William Bean in 1958. BRBNS is caused by somatic mutations in the TEK (TIE2) gene. BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangioma. It

neg: Blue rubber bleb nevus syndrome Blue rubber bleb nevus syndrome Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract. The disease is characterized by the presence of fluid-filled blisters (blebs) as visible, circumscribed, chronic lesions (nevus). It was described by William Bean in 1958. BRBNS is caused by somatic mutations in the TEK (TIE2) gene. BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding. Lesions are most

neg: Alan Clemetson the hypothesis that the hemorrhages seen in infants with shaken baby syndrome are caused not by inflicted trauma, but by capillary damage due to Barlow's disease (subclinical scurvy) - a condition called by proponents Clemetson/Kalokerinos syndrome. The mechanism he argued to be high histamine levels associated with low serum vitamin C, the latter deficiency arising before birth due to factors such as the pregnant mother's malnutrition, and in the infant by recurrent infections and recent multiple vaccinations. His four main papers on this topic, published in the Elsavier journal "Medical Hypotheses", are: "The key role of histamine in the development

neg: Carney complex heart, usually in the skin and breast. Endocrine tumors may manifest as disorders such as Cushing syndrome. The most common endocrine gland manifestation is an ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). The LAMB acronym refers to lentigines, atrial myxomas, and blue nevi. NAME refers to nevi, atrial myxoma, myxoid neurofibromas, and ephelides. Testicular cancer, particularly Sertoli cell type, is associated with Carney syndrome. Thyroid and pancreas cancer may also occur. Although J Aidan Carney also described Carney's triad it is entirely different. Carney complex is most commonly caused by mutations in the PRKAR1A gene on

neg: Blue eye disease protocols including adequate quarantine, testing, and disinfection can help prevent the entry or spread of the disease into a herd. Blue eye disease Blue eye disease is caused by La Piedad Michoacán Mexico virus (LPMV), the only member of the species "Porcine rubulavirus" in the "Paramyxoviridae" family. Synonyms for the disease include "Blue Eye Syndrome" and "Porcine Paramyxovirus Blue Eye Disease", and "La Piedad Michoacán Paramyxovirus Infection". Blue eye disease is a viral disease that is commonly identified by encephalitis, pneumonia, and respiratory diseases in piglets. It also causes reproductive failure in adult pigs, and rarely identifies with corneal opacity,

neg: Blue eye disease Blue eye disease Blue eye disease is caused by La Piedad Michoacán Mexico virus (LPMV), the only member of the species "Porcine rubulavirus" in the "Paramyxoviridae" family. Synonyms for the disease include "Blue Eye Syndrome" and "Porcine Paramyxovirus Blue Eye Disease", and "La Piedad Michoacán Paramyxovirus Infection". Blue eye disease is a viral disease that is commonly identified by encephalitis, pneumonia, and respiratory diseases in piglets. It also causes reproductive failure in adult pigs, and rarely identifies with corneal opacity, an eye disorder characterized by scarring of the cornea. Blue eye disease typically begins in piglets that are between 2–21

neg: Cushing's syndrome can act on the melanocortin 1 receptor. A variant of Cushing's disease can be caused by ectopic, i.e. extrapituitary, ACTH production from, for example, a small-cell lung cancer. When Cushing's syndrome is caused by an increase of cortisol at the level of the adrenal glands (via an adenoma or hyperplasia), negative feedback ultimately reduces ACTH production in the pituitary. In these cases, ACTH levels remain low and no hyperpigmentation develops. While all Cushing’s disease gives Cushing’s syndrome, not all Cushing’s syndrome is due to Cushing’s disease. Brain changes such as cerebral atrophy may occur. This atrophy is associated with areas

neg: Revesz syndrome Revesz syndrome Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson syndrome. It is a variant of dyskeratosis congenita. Revesz syndrome is a genetic disease thought to be caused by short telomeres. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this disease yet. Revesz syndrome has so far

neg: Irving Thalberg had been the world's "foremost figure in motion-picture history." President Roosevelt wrote, "The world of art is poorer with the passing of Irving Thalberg. His high ideals, insight and imagination went into the production of his masterpieces." The Irving G. Thalberg Memorial Award, given out periodically by the Academy of Motion Picture Arts and Sciences since 1937, has been awarded to producers whose body of work reflected consistently high quality films. Thalberg was born in Brooklyn, to German Jewish immigrant parents, William and Henrietta (Haymann). Shortly after birth, he was diagnosed with "blue baby syndrome," caused by a congenital disease

neg: Opitz G/BBB syndrome who else in the family may be at risk for the disease and to help guide family planning decisions in the future. Because of its wide variability in which defects will occur, there is no known mortality rate specifically for the disease. However, the leading cause of death for people with Opitz G/BBB syndrome is due to infant death caused by aspiration due to esophageal, pharyngeal or laryngeal defects. Fortunately, to date there are no factors that can increase the expression of symptoms of this disease. All abnormalities and symptoms are present at birth. Since the symptoms caused by this

neg: Porcine reproductive and respiratory syndrome virus earlier methods the laboratory staff are more quickly able to identify the new strain due to their more robust detection capabilities. Porcine Reproductive and Respiratory Syndrome (PRRS) is a complex disease. Modified Live Vaccines (MLV) vaccines are the primary immunological tool for its control. Porcine reproductive and respiratory syndrome virus Porcine reproductive and respiratory syndrome virus (PRRSV) is a virus that causes a disease of pigs, called porcine reproductive and respiratory syndrome (PRRS), also known as blue-ear pig disease (in Chinese, "zhū láněr bìng" 豬藍耳病). This economically important, panzootic disease causes reproductive failure in breeding stock and respiratory tract illness

neg: Leigh syndrome who was at risk of producing a baby with Leigh disease. A healthy boy was born on 6 April 2016. However, it is not yet certain if the technique is completely reliable and safe. Different genetic causes and types of Leigh syndrome have different prognoses, though all are poor. The most severe forms of the disease, caused by a full deficiency in one of the affected proteins, cause death at a few years of age. If the deficiency is not complete, the prognosis is somewhat better and an affected child is expected to survive 6–7 years, and in rare cases,

neg: Cushing's syndrome and lower back. Cushing’s syndrome includes all the causes of increased cortisol leading to the diseased state. Cushing’s disease is a specific type of Cushing’s syndrome caused by a pituitary tumor leading to excessive production of ACTH (adrenocorticotropic hormone). Excessive ACTH stimulates the adrenal cortex to produce high levels of cortisol, producing the disease state. Cushing's disease due to excess ACTH may also result in hyperpigmentation. This is due to Melanocyte-Stimulating Hormone production as a byproduct of ACTH synthesis from Pro-opiomelanocortin (POMC). Alternatively, it is proposed that the high levels of ACTH, β-lipotropin, and γ-lipotropin, which contain weak MSH function,

neg: Hurler–Scheie syndrome Hurler–Scheie syndrome Hurler–Scheie syndrome (also known as "mucopolysaccharidosis type I H-S") is a genetic disorder caused by the buildup of glycosaminoglycans (GAGs) in various organ tissues. It is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Hurler-Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler-Scheie syndrome lack the ability to break down GAGs in their lysosomes due a deficiency of the enzyme iduronidase. All forms of mucopolysaccharidosis type I (MPS I) are a spectrum of the same disease. Hurler-Sheie is the subtype

neg: Revesz syndrome who also had additional features of retinal detachment and retinitis pigmentosa, which are unreported in this syndrome. </div> Revesz syndrome Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson syndrome. It is a variant of dyskeratosis congenita. Revesz syndrome is a genetic disease thought to be caused by short telomeres. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which

neg: POEMS syndrome POEMS syndrome POEMS syndrome (also termed osteosclerotic myeloma, Crow–Fukase syndrome, Takatsuki disease, or PEP syndrome) is a rare paraneoplastic syndrome caused by a clone of aberrant plasma cells. The name POEMS is an acronym for some of the disease's major signs and symptoms (polyneuropathy, organomegaly, endocrinopathy, myeloma protein, and skin changes), as is PEP (polyneuropathy, endocrinopathy, plasma cell dyscrasia). The signs and symptoms of most neoplasms are due to their mass effects caused by the invasion and destruction of tissues by the neoplasms' cells. Signs and symptoms of a cancer causing a paraneoplastic syndrome result from the release of humoral

neg: Miller–Dieker syndrome and fourth months of pregnancy, the brain cells in the baby multiply and move to the surface of the brain to form the cortex. Lissencephaly is caused by a failure of this nerve cell migration. MDS is often called Miller-Dieker lissencephaly syndrome. JQ Miller described the disease and in 1969 H Dieker emphasized that it should also take the name lissencephaly syndrome because several malformations occur beyond the brain itself. When MDS was initially described, geneticists assumed it followed an autosomal recessive pattern of inheritance. In the early 1990s, several patients with Miller–Dieker syndrome were found to be missing a

neg: POEMS syndrome polyneuropathy and various unusual features (such as pigmentation and clubbing) in two patients aged 54 and 67. POEMS syndrome POEMS syndrome (also termed osteosclerotic myeloma, Crow–Fukase syndrome, Takatsuki disease, or PEP syndrome) is a rare paraneoplastic syndrome caused by a clone of aberrant plasma cells. The name POEMS is an acronym for some of the disease's major signs and symptoms (polyneuropathy, organomegaly, endocrinopathy, myeloma protein, and skin changes), as is PEP (polyneuropathy, endocrinopathy, plasma cell dyscrasia). The signs and symptoms of most neoplasms are due to their mass effects caused by the invasion and destruction of tissues by the neoplasms'

neg: White spot syndrome as the whitespot syndrome baculovirus complex and the disease caused by them as white spot syndrome (WSS). The first reported epidemic due to this virus is from Taiwan in 1992; however, reports of losses due to white spot disease came from China in 1993, where it led to a virtual collapse of the shrimp farming industry. This was followed by outbreaks in Japan and Korea in the same year, Thailand, India and Malaysia in 1994, and by 1996 it had severely affected East Asia and South Asia. In late 1995, it was reported in the United States, 1998 in Central

neg: San Joaquin Valley blue-baby syndrome, which can occur when there are high nitrate levels in the blood that are untreated. San Joaquin Valley Fever is one common term for coccidioidomycosis, a fungal infection caused by "Coccidioides immitis" through the inhalation of airborne dust or dirt. The valley is just one of the areas in the southwestern United States where the illness is endemic due to C. immitis residing in the soil. San Joaquin Valley The San Joaquin Valley ( ) is the area of the Central Valley of the U.S. state of California that lies south of the Sacramento–San Joaquin River Delta and

neg: DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can be variable, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves disease. DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as "22q11.2". About 90% of cases occur due to a new mutation

neg: 1971 Iraq poison grain disaster more serious symptoms improved. This was in contrast to expected outcomes, largely based on analysis of Minamata disease in Japan. In boys with mercury levels below clinical poisoning, a reduction in school performance was noted, although this correlation could not be confirmed. In infants, the mercury poisoning caused central nervous system damage. Relatively low doses caused slower development in children, and abnormal reflexes. Different treatments for mercury poisoning have since been developed, and "quiet baby syndrome", characterised by a baby who never cries, is now a recognised symptom of methylmercury-induced brain damage. Ongoing recommendations of the food regulation authorities have

neg: 3C syndrome reported in connection with 3C syndrome. Many children with the disorder die as infants due to severe congenital heart disease. The proband of Ritscher and Schinzel's original study was still alive at the age of 21. A fetus with 3C syndrome may have an umbilical cord with one umbilical artery instead of two. 3C syndrome is an autosomal recessive disease, caused by a mutation on the long arm of chromosome 8 at 8q24.13, the locus for KIAA0196, the gene for the protein strumpellin. Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic

neg: Wolfram syndrome Wolfram syndrome Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the central nervous system (especially the brainstem). Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction. Two genetic

neg: Ortner's syndrome Ortner's syndrome Ortner's syndrome is a rare cardiovocal syndrome and refers to recurrent laryngeal nerve palsy from cardiovascular disease. It was first described by Norbert Ortner (1865–1935), an Austrian physician, in 1897. The most common historical cause is a dilated left atrium due to mitral stenosis, but other causes, including pulmonary hypertension, thoracic aortic aneurysms, an enlarged pulmonary artery and aberrant subclavian artery syndrome have been reported compressing the nerve. Dysphagia caused by a similar mechanism is referred to as dysphagia aortica, or, in the case of subclavian artery aberrancy, as dysphagia lusoria. Due to compression of recurrent laryngeal nerve

neg: Transient myeloproliferative disease individuals who lack inactivating "GATA1" mutations. Silent TAM nonetheless carries the treat of progressing to AMKL with an incidence similar to that occurring in TMD. Down syndrome is caused be the presence of an extra chromosome 21 (i.e. trisomy 21) due to a failure in normal chromosomal pairing or premature unpairing during the cell division of meiosis in egg or sperm cells. In these cases, virtually all cells in Down syndrome individuals bear an extra chromosome 21. However, there are other genetic changes that may either cause Down syndrome or cause an individual without Down syndrome to bear disease susceptibilities

neg: Pulmonary-renal syndrome Pulmonary-renal syndrome Pulmonary-renal syndrome (PRS) is a rare medical syndrome in which respiratory failure involving bleeding in the lungs and kidney failure (glomerulonephritis) occur. PRS is associated with a high rate of morbidity and death. The term was first used by Goodpasture in 1919 to describe the association of respiratory and kidney failure. Pulmonary-renal syndromes are most commonly caused by an underlying autoimmune disease. PRS is most commonly due to ANCA-associated vasculitides (e.g., granulomatosis with polyangiitis) or due to anti-basement membrane diseases (e.g., Goodpasture's syndrome). Granulomatosis with polyangiitis usually presents with nasopharyngeal involvement as well, whereas Goodpasture's will not. Microscopic

neg: Sengers syndrome Sengers syndrome Sengers syndrome is a rare autosomal recessive condition characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. There are two forms of the disease - a lethal neonatal form and a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half. Death in the first year is usually due to cardiac failure. Marked lactic acidemia occurs with even limited muscular exertion. The chronic form have stable cardiomyopathy and myopathy with a normal intellect. Other reported features include nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development. This disease is caused by mutations in AGK or

neg: Myhre syndrome It has many similarities to LAPS Syndrome and they both arise from the same mutations in the SMAD4 gene. It is believed that they are the same syndrome. Myhre syndrome Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. The clinical presentation is variable but includes The facial abnormalities include: The skeletal abnormalities include: Congenital heart disease and undescended testes have also been reported in association with this syndrome. Myhre syndrome is due to mutations in the SMAD4 gene. This gene encodes a protein - transducer mediating transforming

neg: Pulmonary-renal syndrome Treatment is primarily by corticosteroids and immunosuppressive medications like cyclophosphamide, methotrexate, and azathioprine. Plasmapheresis can be used in some circumstances. Pulmonary-renal syndrome Pulmonary-renal syndrome (PRS) is a rare medical syndrome in which respiratory failure involving bleeding in the lungs and kidney failure (glomerulonephritis) occur. PRS is associated with a high rate of morbidity and death. The term was first used by Goodpasture in 1919 to describe the association of respiratory and kidney failure. Pulmonary-renal syndromes are most commonly caused by an underlying autoimmune disease. PRS is most commonly due to ANCA-associated vasculitides (e.g., granulomatosis with polyangiitis) or due to anti-basement

neg: Cortes Lacassie syndrome Cortes Lacassie syndrome Cortes Lacassie syndrome is a rare disease that is characterized by seizures, abnormalities in nails, hair and teeth, and malformed hands and feet. It is named after Fanny Cortes and Yves Lacassie, two researchers from the University of Chile who discovered the disease in 1986. Cortes Lacassie syndrome is considered a rare disease and has only been recorded in one case, leading to death at 31 months. This disease is characterized by agenesis of fingers and toes, and hypotrophy of fingernails at birth. At 3 months, the baby exhibited delayed psychomotor development and developed myoclonic seizures. Chromosomal

neg: Ocular ischemic syndrome Ocular ischemic syndrome Ocular ischemic syndrome is the constellation of ocular signs and symptoms secondary to severe, chronic arterial hypoperfusion to the eye. Amaurosis fugax is a form of acute vision loss caused by reduced blood flow to the eye; it may be a warning sign of an impending stroke, as both stroke and retinal artery occlusion can be caused by thromboembolism due to atherosclerosis elsewhere in the body (such as coronary artery disease and especially carotid atherosclerosis). Consequently, those with transient blurring of vision are advised to urgently seek medical attention for a thorough evaluation of the carotid artery.

neg: Cortes Lacassie syndrome study indicated no abnormalities. The baby developed acute epileptic seizures, acute renal failure, and hepatorenal syndrome, passing away at 31 months. Cortes Lacassie syndrome is a form of ectodermal dysplasia, postulated to be a new type of the group of tricho-odonto-onychic disorders. Cortes Lacassie syndrome Cortes Lacassie syndrome is a rare disease that is characterized by seizures, abnormalities in nails, hair and teeth, and malformed hands and feet. It is named after Fanny Cortes and Yves Lacassie, two researchers from the University of Chile who discovered the disease in 1986. Cortes Lacassie syndrome is considered a rare disease and has

neg: Atypical hemolytic uremic syndrome Atypical hemolytic uremic syndrome Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it is caused by chronic, uncontrolled activation of the complement system, a branch of the body’s immune system that destroys and removes foreign particles. The disease affects both children and adults and is characterized by systemic thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body, which can lead to stroke, heart attack, kidney failure, and death. The complement system activation may be due to mutations in the complement regulatory

neg: Purple glove syndrome Purple glove syndrome Purple glove syndrome (PGS) is a poorly understood skin disease in which the extremities become swollen, discoloured and painful. PGS is potentially serious, and may require amputation. PGS is most common among elderly patients and those receiving multiple large intravenous doses of the epilepsy drug phenytoin. Compartment syndrome is a complication of PGS. Purple glove syndrome is caused by the intravenous anticonvulsant phenytoin. This medication has many already established neurological side effects, however glove syndrome is a rare, but very serious adverse effect that may lead to limb amputations. This may occur due to the administration of

neg: Mitochondrial neurogastrointestinal encephalopathy syndrome patients with the disease, however, their success depends on physicians catching the disease early before too much organ damage has occurred. Mitochondrial neurogastrointestinal encephalopathy syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome. The disease presents in childhood, but often goes unnoticed for decades. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase. Mutations in this gene result in impaired mitochondrial function, leading to intestinal symptoms as

neg: Hepatopulmonary syndrome do not suffer from hepatopulmonary syndrome. Hepatopulmonary syndrome In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation (broadening of the blood vessels) in the lungs of patients with liver disease. Dyspnea and hypoxemia are worse in the upright position (which is called platypnea and orthodeoxia, respectively). The hepatopulmonary syndrome results from the formation of microscopic intrapulmonary arteriovenous dilatations in patients with both chronic and far less common, acute liver failure. The mechanism is unknown but is thought to be due to increased liver production

neg: Myhre syndrome Myhre syndrome Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. The clinical presentation is variable but includes The facial abnormalities include: The skeletal abnormalities include: Congenital heart disease and undescended testes have also been reported in association with this syndrome. Myhre syndrome is due to mutations in the SMAD4 gene. This gene encodes a protein - transducer mediating transforming growth factor beta. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the

neg: Infant respiratory distress syndrome gestational age, from about 50% in babies born at 26–28 weeks, to about 25% at 30–31 weeks. The syndrome is more frequent in males, Caucasians, infants of diabetic mothers, and the second born of premature twins. IRDS is distinct from pulmonary hypoplasia, another leading cause of neonatal death that involves respiratory distress. IRDS begins shortly after birth and is manifest by fast breathing, more than 60 per minute, a fast heart rate, chest wall retractions (recession), expiratory grunting, nasal flaring and blue discoloration of the skin during breathing efforts. As the disease progresses, the baby may develop ventilatory failure (rising

neg: Gray baby syndrome Gray baby syndrome Gray baby syndrome (also termed Gray or Grey syndrome) is a rare but serious side effect that occurs in newborn infants (especially premature babies) following the accumulation of antibiotic chloramphenicol. Toxic levels of chloramphenicol after 2–9 days result in: Two pathophysiologic mechanisms are thought to play a role in the development of gray baby syndrome after exposure to the anti-microbial drug chloramphenicol. This condition is due to a lack of glucuronidation reactions occurring in the baby, thus leading to an accumulation of toxic chloramphenicol metabolites: Due to these two reasons the chloramphenicol level in blood is increased,

neg: Short bowel syndrome Short bowel syndrome Short bowel syndrome (SBS, or simply short gut) is a malabsorption disorder caused by a lack of functional small intestine. The primary symptom is diarrhea, which can result in dehydration, malnutrition, and weight loss. Other symptoms may include bloating, heartburn, feeling tired, lactose intolerance, and foul smelling stool. Complications can include anemia and kidney stones. Most cases are due to the surgical removal of a large portion of the small intestine. This is most often required due to Crohn's disease in adults and necrotising enterocolitis in young children. Other causes include damage to the small intestine from

neg: Hepatopulmonary syndrome Hepatopulmonary syndrome In medicine, hepatopulmonary syndrome is a syndrome of shortness of breath and hypoxemia (low oxygen levels in the blood of the arteries) caused by vasodilation (broadening of the blood vessels) in the lungs of patients with liver disease. Dyspnea and hypoxemia are worse in the upright position (which is called platypnea and orthodeoxia, respectively). The hepatopulmonary syndrome results from the formation of microscopic intrapulmonary arteriovenous dilatations in patients with both chronic and far less common, acute liver failure. The mechanism is unknown but is thought to be due to increased liver production or decreased liver clearance of vasodilators,

neg: Huntington's disease-like syndrome Huntington's disease-like syndrome The Huntington's disease-like syndromes (often abbreviated as HD-like or "HDL" syndromes) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea, cognitive decline or dementia and behavioural or psychiatric problems. HDL1 is an unusual, autosomal dominant familial prion disease. Only described in one family, it is caused by an eight-octapeptide repeat insertion in the "PRNP" gene. More broadly, inherited prion diseases in general can mimic HD. HDL2 is the commonest HD-like syndrome and is caused by GTC/CAG triplet expansions in the "JPH3" gene encoding junctophilin-3.

neg: 9q34 deletion syndrome disruptions while only 25% are caused by 9q34.3 deletions. There are no statistics on the effect the disease has on life expectancy due to the lack of information available. Kleefstra syndrome is a new condition that has only been known about for a few years and there have been fewer than 200 cases, reported. Due to the lack of cases worldwide, however, the history behind the origination is unclear. A study published by the American Journal of Human Genetics performed an EHMT1 mutation analysis on 23 patients that showed symptoms of q934 syndrome. The patients all varied in age. With

neg: Metabolic bone disease the metabolic bone disorder osteomalacia. Although there is currently no treatment for the genetic condition, replacement of phosphate often corrects or improves the metabolic bone disorder. Osteoporosis is due to causal factors like atrophy of disuse and gonadal deficiency. Hence osteoporosis is common in post menopausal women and in men above 50 yrs. Hypercorticism may also be causal factor, as osteoporosis may be seen as a feature of Cushing's syndrome. Metabolic bone disease Metabolic bone disease is an umbrella term referring to abnormalities of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by abnormalities

neg: Alan Clemetson of atherosclerosis and coronary heart disease", "Barlow's disease", "Capillary fragility as a cause of subdural hemorrhage in infants" and "Elevated blood histamine caused by vaccinations and vitamin c deficiency may mimic the shaken baby syndrome". Alan Clemetson Charles Alan Blake Clemetson FRCOG, FRCSC, FACOG (31 October 1923 – 30 August 2006) was a medical doctor, scientist and researcher who published over 48 medical papers and a three-volume monograph, "Vitamin C". During his hospital and teaching career he specialised in obstetrics and gynecology. After retirement in 1991 he devoted his time to researching and publishing papers on Barlow's disease (scurvy in

neg: Schwartz–Jampel syndrome Schwartz–Jampel syndrome Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the "HSPG2" gene, which makes the protein perlecan, and causes osteochondrodysplasia associated with myotonia. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. Schwartz–Jampel syndrome is caused by mutations in the "HSPG2" gene, which makes the protein perlecan, which is found in muscle and cartilage. Relationships between the disease and perlecan deficiency have been studied. In Schwartz–Jampel syndrome, it is suspected that abnormal perlecan function leads to a deficiency in acetylcholinesterase, an enzyme involved in breaking down the neurotransmitter acetylcholine, which incites muscle

neg: Minamata disease Currently, several research groups are working on methylmercury toxicity. Scientific community trying to decipher the in-depth molecular mechanism of the disease caused due to methylmercury. The critical target of this compound is central nervous system. Various labs across the world looking for the cure also. Scientists are testing natural products against methylmercury induced toxicity. Recently, Kalaivani et al., found an essential oil extracted from selinum vaginatum exerts neuroprotection against CHHg. Minamata disease , sometimes referred to as , is a neurological syndrome caused by severe mercury poisoning. Signs and symptoms include ataxia, numbness in the hands and feet, general muscle

neg: Staphylococcal scalded skin syndrome thought not to be different from scarlet fever caused by staphylococcal exotoxin after Keith Powell proposed equating it with the condition currently known as staphylococcal scalded skin syndrome in 1979. Staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome (SSSS), also known as pemphigus neonatorum or Ritter's disease, or localized bullous impetigo is a dermatological condition caused by "Staphylococcus aureus". The disease presents with the widespread formation of fluid-filled blisters that are thin walled and easily ruptured, and the patient can be positive for Nikolsky's sign. Ritter's disease of the newborn is the most severe form of SSSS, with similar signs

neg: Michelin tire baby syndrome Michelin tire baby syndrome Michelin tire baby syndrome (also known as "Folded skin with scarring"), is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. But it is a dangerous skin disease as it resides in the body rest of life, it can lead to death. They are reminiscent of those of Bibendum, the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate,

neg: Mitochondrial neurogastrointestinal encephalopathy syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome. The disease presents in childhood, but often goes unnoticed for decades. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase. Mutations in this gene result in impaired mitochondrial function, leading to intestinal symptoms as well as neuro-ophthalmologic abnormalities. A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG

neg: Syndrome other instances, a syndrome is not specific to only one disease. For example, toxic shock syndrome can be caused by various toxins; premotor syndrome can be caused by various brain lesions; and premenstrual syndrome is not a disease but simply a set of symptoms. If an underlying genetic cause is suspected but not known, a condition may be referred to as a genetic association (often just "association" in context). By definition, an association indicates that the collection of signs and symptoms occurs in combination more frequently than would be likely by chance alone. Syndromes are often named after the physician

neg: Ellis–van Creveld syndrome for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration. Weyers acrofacial dysostosis is due to another mutation in the EVC gene and hence is allelic with Ellis–van Creveld syndrome. There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia. The disorder was described by Richard W. B. Ellis

neg: Wolfram syndrome valproate is currently under investigation to determine if it can slow the progression of Wolfram syndrome. Wolfram syndrome Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the central nervous system (especially the brainstem). Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. However,

neg: Opitz G/BBB syndrome arm of the X chromosome or a mutation of the 22q11.2 gene on the 22nd chromosome. Since it is a genetic disease, it is an inherited condition. However, there is an extremely wide variability in how the disease presents itself. Both X-linked Type I and Autosomal dominant Type II Optiz G/BBB syndromes are caused by genetic mutations. However, while the X-linked form is caused by a mutation on the midline 1 (MID1) gene on the short (p) arm of the X chromosome; the autosomal dominant form is due to a mutation on chromosome 22. Both forms of the disease result

neg: GATA1 of Arc syndrome caused by mutations in either the "VPS33B" (on human chromosome 15 at q26) or "VIPAS39" (on chromosome 14 at q34); the autosomal dominant disease of GFI1B-related syndrome caused by mutations in "GFI1B" (located on human chromosome 9 at q34); and the disease caused by R216W and R216Q mutations in GATA1. The GATA1 mutation-related disease resembles the one caused by "NBEAL2" mutations in that it is associated with the circulation of a reduced number (i.e. thrombocytopenia) of abnormally enlarged (i.e. macrothrombocytes), alpha-granule deficient platelets. It differs from the "NBEAL2"-induced disease in that it is X chromosome-linked, accompanied by

neg: Pearson syndrome causing it were discovered a decade later. Pearson syndrome is a very rare mitochondrial disorder that is characterized by health conditions such as sideroblastic anemia, liver disease, and exocrine pancreas deficiency. Pearson syndrome is a mitochondrial disease caused by a deletion in mitochondrial DNA (mtDNA). An mtDNA is genetic material contained in the cellular organelle called the mitochondria. Depending on the tissue type, each cell contains hundreds to thousands of mitochondria. There are 2–10 mtDNA molecules in each mitochondrium. With mitochondrial disorders caused by defects in the mtDNA, the severity of the disease depends on the number of mutant mtDNA

neg: Michelin tire baby syndrome genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects. It was originally described by Ross in 1969. Twenty cases of this disorder have been reported. Michelin tire baby syndrome Michelin tire baby syndrome (also known as "Folded skin with scarring"), is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. But it is a dangerous skin disease as it resides in the body rest

neg: Abducens nerve diseases and various neuropathies. Perhaps the most common overall cause of sixth nerve impairment is diabetic neuropathy. Iatrogenic injury is also known to occur, with the abducens nerve being the most commonly injured cranial nerve in halo orthosis placement. The resultant palsy is identified through loss of lateral gaze after application of the orthosis. Rare causes of isolated sixth nerve damage include Wernicke-Korsakoff syndrome and Tolosa-Hunt syndrome. Wernicke-Korsakoff syndrome is caused by thiamine deficiency, classically due to alcoholism. The characteristic ocular abnormalities are nystagmus and lateral rectus weakness. Tolosa-Hunt syndrome is an idiopathic granulomatous disease that causes painful oculomotor (especially

neg: Sick sinus syndrome cause is often a non-specific, scar-like degeneration of the cardiac conduction system. Cardiac surgery, especially to the atria, is a common cause of sick sinus syndrome in children. Sick sinus syndrome Sick sinus syndrome (SSS), also called sinus dysfunction, or sinoatrial node disease ("SND"), is a group of abnormal heart rhythms (arrhythmias) presumably caused by a malfunction of the sinus node, the heart's primary pacemaker. Tachycardia-bradycardia syndrome is a variant of sick sinus syndrome in which the arrhythmia alternates between slow and fast heart rates. Tachycardia-bradycardia syndrome is often associated with ischemic heart disease and heart valve disease. Even though

neg: Spinal and bulbar muscular atrophy syndrome (AIS). It is also related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease. Individuals with SBMA have muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord. Ages of onset and severity of manifestations in affected males vary from adolescence to old age, but most commonly develop in middle adult life. The syndrome has neuromuscular and endocrine manifestations. Early signs often include weakness of tongue and mouth muscles, fasciculations, and gradually increasing weakness of limb muscles with muscle wasting. Neuromuscular management is supportive, and the disease progresses

neg: Blue baby syndrome most obvious is a blue tint to the skin especially around the fingertips, toes and lips. A lack of oxygenated blood cells means there is not enough oxygen to supply the needs of these areas. The other, more stressful symptom is breathlessness. The baby may gasp and wheeze, while slipping in and out of consciousness. It may be weary, have laboured breathing and convulsions may occur. The baby will likely be fatigued and unalert to its surroundings. On November 29, 1944, the first successful operation for tetralogy of Fallot was performed at the Johns Hopkins Hospital. In 1943, the syndrome

neg: GAPO syndrome typically coupled with a large forehead. Individuals with the disease tend to have depressed nose bridges, protruding ears, and abnormally thick lips, though these symptoms are not unique to this disorder. No direct correlation has been found between GAPO syndrome and mental retardation, though cases of individuals having both have been reported. Due to the severity of the phenotype, GAPO syndrome can be diagnosed very early on. Most cases can be diagnosed by 6 months of age, and most symptoms will be apparent by age 2. GAPO syndrome is caused by a deletion in both copies of the ANTXR1 gene,

neg: Porcine reproductive and respiratory syndrome virus Porcine reproductive and respiratory syndrome virus Porcine reproductive and respiratory syndrome virus (PRRSV) is a virus that causes a disease of pigs, called porcine reproductive and respiratory syndrome (PRRS), also known as blue-ear pig disease (in Chinese, "zhū láněr bìng" 豬藍耳病). This economically important, panzootic disease causes reproductive failure in breeding stock and respiratory tract illness in young pigs. Initially referred to as "mystery swine disease" and "mystery reproductive syndrome", it was first reported in 1987 in North America (2) and Central Europe (3). The disease costs the United States swine industry around $644 million annually, and recent estimates in

neg: Neuromuscular junction disease Neuromuscular junction disease Neuromuscular junction disease is a medical condition where the normal conduction through the neuromuscular junction fails to function correctly. In diseases such as myasthenia gravis, the end plate potential (EPP) fails to effectively activate the muscle fiber due to an autoimmune reaction against acetylcholine receptors, resulting in muscle weakness and fatigue. Myasthenia gravis is caused most commonly by auto-antibodies against the acetylcholine receptor. It has recently been realized that a second category of gravis is due to auto-antibodies against MuSK. A different condition, Lambert-Eaton myasthenic syndrome, is usually associated with "presynaptic" antibodies to the voltage-dependent calcium channel.

neg: Huntington's disease-like syndrome chorea, Friedreich's ataxia, mitochondrial disease. A Huntington's disease-like presentation may also be caused by acquired causes. Huntington's disease-like syndrome The Huntington's disease-like syndromes (often abbreviated as HD-like or "HDL" syndromes) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea, cognitive decline or dementia and behavioural or psychiatric problems. HDL1 is an unusual, autosomal dominant familial prion disease. Only described in one family, it is caused by an eight-octapeptide repeat insertion in the "PRNP" gene. More broadly, inherited prion diseases in general can mimic HD. HDL2 is the

neg: Foal immunodeficiency syndrome Foal immunodeficiency syndrome Foal immunodeficiency syndrome (FIS), originally known as Fell pony syndrome, mainly affects two breeds of ponies: the Fell and Dales. FIS is a recessive genetic disease. Affected foals appear normal at birth, but become weak, and either die or are euthanized by three months of age due to persistent infections caused by immunodeficiency. Affected foals are healthy when born. By one month of age, foals become depressed, lose weight, and have diarrhea, and a cough with nasal discharge. The diarrhea and cough initially improve in response to treatment, but then worsen as treatment becomes ineffective. The foal's

neg: Bonnet–Dechaume–Blanc syndrome with hemangiomas, the malformations result in severe headaches, cerebral hemorrhages, vomiting, meningism, seizures, acute strokes or progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting. The distinguishable facial features that result from Bonnet–Dechaume–Blanc syndrome vary from case to case. A person showing signs of the syndrome may display faint skin discoloration, nevi and angiomas of the skin. Some patients with this disorder also present with high flow arteriovenous malformations of the maxillofacial or mandibular (jaw) regions. Another facial indicator of this disease is malformations affecting the frontal and/or maxillary sinuses. The syndrome is a congenital disorder

neg: Edwards syndrome Edwards syndrome Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely cases may be inherited from a person's parents. Occasionally not all cells

neg: Pancreatic disease due to a lack of digestive enzymes made by the pancreas. EPI is found in humans afflicted with cystic fibrosis and Shwachman–Diamond syndrome. It is caused by a progressive loss of the pancreatic cells that make digestive enzymes. Chronic pancreatitis is the most common cause of EPI in humans. Loss of digestive enzymes leads to maldigestion and malabsorption of nutrients. Cystic fibrosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The product of this gene helps create sweat,

neg: Sick sinus syndrome Sick sinus syndrome Sick sinus syndrome (SSS), also called sinus dysfunction, or sinoatrial node disease ("SND"), is a group of abnormal heart rhythms (arrhythmias) presumably caused by a malfunction of the sinus node, the heart's primary pacemaker. Tachycardia-bradycardia syndrome is a variant of sick sinus syndrome in which the arrhythmia alternates between slow and fast heart rates. Tachycardia-bradycardia syndrome is often associated with ischemic heart disease and heart valve disease. Even though many types of sick sinus syndrome produce no symptoms, a person may present with one or more of the following signs and symptoms: It can result in many

neg: Transient myeloproliferative disease but nonetheless develop transient myeloproliferative disease due to the presence of extra copies of key genes normally found on chromosome 21 genes caused by mosaic, Robertsonian translocation, partial trisomy 21, isochromosome formation, or duplication. Down syndrome by itself (i.e. in the absence of "GATA1" gene mutations) is a cause for numerous hematological abnormalities which are similar to those seen in TMD. These Down syndrome-related abnormalities include increased numbers of stem cell precursors to platelets and red blood cells, impaired maturation of these precursors to platelets and red blood cells, thrombocytopenia, abnormal bleeding, anemia, leukocytosis, and serious liver damage. Since TMD

neg: Alport syndrome disease and 'nephritis'. Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc.). These descriptions refer to 'classic' Alport syndrome, which usually causes significant disease from young adult or late childhood life. Some individuals, usually with milder mutations or 'carrier' status, develop disease later, or show only some of the features of classic disease.

neg: Tracheal collapse Terrier. Congenital tracheal collapse appears to be caused by a deficiency of normal components of tracheal ring cartilage like glycosaminoglycans, glycoproteins, calcium, and chondroitin. Acquired tracheal collapse can be caused by Cushing's syndrome, heart disease, and chronic respiratory disease and infection. Symptoms include a cough (often called a "goose honk cough" due to its sound), especially when the dog is excited. This cough is usually paroxysmal in nature. Other symptoms include exercise intolerance, respiratory distress, and gagging while eating or drinking. Tracheal collapse is easily seen on a radiograph as a narrowing of the tracheal lumen. Treatment for mild to

neg: Liebenberg syndrome symptoms: Liebenberg Syndrome follows an autosomal dominant mode of inheritance, whereby heterozygotes with this mutation express the disease phenotype. It is caused by a heterozygous mutation to chromosome 5. It involves the inappropriate enhancement of the PITX1 gene due to genetic deletions and chromosome translocations. PITX1 is a homeobox gene which are genes that regulate proper body structure development. This PT1X gene encodes a transcription factor expressed in hind limbs. When expressed, it causes the formation of hindlimb structures. Liebenberg Syndrome is a result of one of two different genetic mutations. The first is a deletion upstream of the PITX1

neg: Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene ("PTPN11"). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a

neg: Corticobasal syndrome Corticobasal syndrome Corticobasal syndrome (CBS) is a progressive neurodegenerative disease and a type of frontotemporal dementia. Corticobasal syndrome is one of four clinical phenotypes of corticobasal degeneration (CBD), the other three being: frontal behavioral-spatial syndrome (FBS), nonfluent/agrammatic variant of primary progressive aphasia (naPPA), and progressive supranuclear palsy syndrome (PSPS). CBD is the pathology underlying approximately 50% of CBS cases. Other degenerative pathologies that can cause corticobasal syndrome include: Alzheimer’s disease, Pick’s disease with Pick bodies, Lewy body dementias, neurofilament inclusion body disease, Creutzfeldt-Jakob disease, frontotemporal degeneration due to progranulin gene mutation and motor neuron disease‐inclusion dementia. Symptoms of CBS include

neg: Wiskott–Aldrich syndrome they probably shared a novel frameshift mutation of the first exon of the "WASp" gene. Wiskott–Aldrich syndrome Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present similar but less severe symptoms and are caused by mutations of the same gene. WAS occurs most often in males due to its X-linked recessive pattern of inheritance,

neg: Wiskott–Aldrich syndrome Wiskott–Aldrich syndrome Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present similar but less severe symptoms and are caused by mutations of the same gene. WAS occurs most often in males due to its X-linked recessive pattern of inheritance, affecting between 1 and 10 males per million. The first signs are usually petechiae and

neg: Broken heart heart or chest area, which is due to the emotional stress caused by a traumatic breakup or the death of a loved one. Broken heart syndrome mimics symptoms of a heart attack, but it is clinically different from a heart attack because the patients have few risk factors for heart disease and were previously healthy prior to the heart muscles weakening. Some echocardiograms expressed how the left ventricle, of people with the broken heart syndrome, was contracting normally but the middle and upper sides of the heart muscle had weaker contractions due to inverted T waves and longer Q-T intervals

neg: White spot syndrome White spot syndrome White spot syndrome virus (WSSV) is the lone virus (and type species) of the genus Whispovirus (white spot), which is the only genus in the family Nimaviridae. It is responsible for causing white spot syndrome in a wide range of crustacean hosts. White spot syndrome (WSS) is a viral infection of penaeid shrimp. The disease is highly lethal and contagious, killing shrimp quickly. Outbreaks of this disease have wiped out the entire populations of many shrimp farms within a few days, in places throughout the world. The disease is caused by a family of related viruses subsumed

neg: Arts syndrome three clinically distinct but genetically allelic disorders, caused by reduced phosphoribosylpyrophosphate synthetase 1 (PRS1) activity due to PRPS1 mutations. Only three families with CMTX5 and two families Arts syndrome, respectively, have been reported worldwide so far. Thus, evidence is still rare whether these two disorders are separate entities, or rather clusters on a phenotypic continuum of PRPS1-related disease. Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance. Sequence analysis of PRPS1, the only gene associated with Arts syndrome, has detected mutations in both kindreds

neg: Scheie syndrome is called a carriers. They will produce less α-L-iduronidase than an individual with two normal copies of the gene. The reduced production of the enzyme in carriers, however, remains sufficient for normal function; the person should not show any symptoms of the disease. Scheie syndrome Scheie syndrome (also known as "MPS I-S") is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans (GAGs) in the body. It is the most mild subtype of mucopolysaccharidosis type I; the most severe subtype of this disease is called Hurler Syndrome. Scheie syndrome is characterized by corneal

neg: Central pain syndrome The pain can also bring on hyperventilation. Blood pressure can rise due to the pain. Damage to the CNS can be caused by car accidents, limb amputations, trauma, spinal cord injury, tumors, stroke, immune system disorders or diseases, such as Multiple Sclerosis, Parkinson's, Graves or Addison's disease, Rheumatoid arthritis, and epilepsy. It may develop months or years after injury or damage to the CNS. A diagnosis of central pain syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Central pain syndrome is suspected in individuals who complain

neg: Mixed connective tissue disease of prednisone treatment, this disease is progressive and may in many cases evolve into a progressive systemic sclerosis (PSS), also referred to as diffuse cutaneous systemic scleroderma (dcSSc) which has a poor outcome. In some cases though the disease is mild and may only need aspirin as a treatment and may go into remission where no Anti-U1-RNP antibodies are detected, but that is rare or within 30% of cases. Most deaths from MCTD are due to heart failure caused by pulmonary arterial hypertension (PAH). Mixed connective tissue disease Mixed connective tissue disease (also known as Sharp's syndrome), commonly abbreviated as

neg: SGSH SGSH N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the "SGSH" gene. A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate. MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized

neg: Vitamin deficiency and vitamin K deficiency. In the medical literature, any of these may also be called by names on the pattern of "hypovitaminosis" or "avitaminosis" + "[letter of vitamin]", for example, hypovitaminosis A, hypovitaminosis C, hypovitaminosis D. Conversely hypervitaminosis is the syndrome of symptoms caused by over-retention of fat-soluble vitamins in the body. Vitamin deficiency A vitamin deficiency can cause a disease or syndrome known as an avitaminosis or hypovitaminosis. This usually refers to a long-term deficiency of a vitamin. When caused by inadequate nutrition it can be classed as a "primary deficiency", and when due to an underlying disorder such

neg: Sick building syndrome The presence of mosquitoes was also a factor related to more symptoms, though it is unclear whether it was due to the presence of mosquitoes or the use of repellents. While sick building syndrome (SBS) encompasses a multitude of non-specific symptoms, building-related illness (BRI) comprises specific, diagnosable symptoms caused by certain agents (chemicals, bacteria, fungi, etc.). These can typically be identified, measured, and quantified. There are usually 4 causal agents in BRI; 1.) Immunologic, 2.) Infectious, 3.) toxic, and 4.) irritant. For instance, Legionnaire's disease, usually caused by "Legionella pneumophila", involves a specific organism which could be ascertained through clinical

neg: Trigeminal trophic syndrome Trigeminal trophic syndrome Trigeminal trophic syndrome (Trigeminal trophic lesion) is a rare disease caused by the interruption of peripheral or central sensory pathways of the trigeminal nerve. A slowly enlarging, uninflammed ulcer can occur in the area that has suffered the trigeminal nerve damage; including but not limited to the cheek beside the ala nasi. These sores affect the skin supplied by the sensory component of the trigeminal nerve. Similar lesions may also occur in the corners of the eyes, inside the ear canal, on the scalp or inside the mouth. It has been stated that the ulceration is due

neg: Cognitive genomics is sometimes reported, most behavioral or pathological phenotypes are not due to a single gene mutation but rather a complex genetic basis. However, there are some exceptions to this rule such as Huntington's disease which is caused by a single specific genetic disorder. The occurrence of neurobehavioral disorders is influenced by a number of factors, genetic and non-genetic. Down syndrome is a genetic syndrome marked by intellectual disability and distinct cranio-facial features and occurs in approximately 1 in 800 live births. Experts believe the genetic cause for the syndrome is a lack of genes in the 21st chromosome. However, the

neg: Avian reovirus low numbers. The most activity was observed during the subacute phase with an increase in CD8 and CD4 lymphocytes. At this phase, clusters of IgM-positive, B-cells, T-cells, and plasma cells were also observed. During the chronic phase, a high amount of CD4 T- cells and a few IgM-positive B-cells were observed. Immunosuppression Infections of chickens with avian reovirus doesn’t disrupt the functional capabilities of their T-cells, but induces suppressor macrophages that inhibit T-cell function. There are several diseases that are caused by avian reovirus, which includes, avian arthritis/tenosynovitis, runting-stunting syndrome, and blue wing disease in chickens. Blue wing disease affects

neg: Ontario Minamata disease Ontario Minamata disease Ontario Minamata disease is a neurological syndrome caused by severe mercury poisoning. It occurred in the Canadian province of Ontario, in 1970, and severely affected two First Nation communities in Northwestern Ontario following consumption of local fish contaminated with mercury, and one First Nation in Southern Ontario due to illegal disposal of industrial chemical waste. The disease was named after the infamous case of severe mercury poisoning in the fishing community of Minamata, Japan, which became known as Minamata disease because it devastated only the residents of the community. In 1962, Dryden Chemical Company began operating a

neg: A Second Chance (2014 film) the police to a remote area in the forest, where he buried the baby. Sanne has been admitted to a psychiatric hospital. She insists that the dead baby wasn't Sofus. At Alexander's autopsy it is revealed that he died due to a cerebral haemorrhage caused by shaken baby syndrome and that he had several older bleeds and rib fractures. Andreas realizes that Anne is responsible for the maltreatment. In a knee-jerk reaction, he makes with Sofus for his mother's holiday home. Meanwhile his police partner Simon has figured out that Andreas must have swapped the babies. He looks for him