what causes waardenburg syndrome
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Genetics of Waardenburg Syndrome Waardenburg syndrome type 1. Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. Deletions, frame shifts, splice site, and nonsense mutations, as well as whole gene deletions, have been reported.
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Causes of Steatorrhea Causes of Steatorrhea. Steatorrhea is caused by fat malabsorption due to cystic fibrosis, lipase deficiency or liver disorders. List of causes of Steatorrhea. Following is a list of causes or underlying conditions (see also Misdiagnosis of underlying causes of Steatorrhea) that could possibly cause Steatorrhea includes:
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Waardenburg syndrome (WS) In humans, mutations, of MITF are responsible for Waardenburg syndrome (WS) type 2, characterized by pigmentation abnormalities and sensorineural deafness due to the absence of melanocytes from the stria vascularis of the inner ear.
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Tay-Sachs Disease A defective gene on chromosome 15 causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.ay-Sachs is a disease of the central nervous system; it is a neurodegenerative disorder. Tay-Sachs most commonly affects infants. In infants, it is a progressive disease that is unfortunately always fatal. Rarely, Tay-Sachs can occur in teens and adults, causing less severe symptoms.
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Angelman syndrome A loss of UBE3A gene function in the brain likely causes many of the characteristic features of Angelman syndrome, a complex genetic disorder that primarily affects the nervous system.This loss of function results from a chromosomal change or gene mutation that affects the maternal copy of the gene.ost cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In another 11 percent of cases, Angelman syndrome results from mutations within the UBE3A gene itself.
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- Von Willebrand disease is caused by a genetic mutation. All of the body’s characteristics (eye color, height, hair color, etc.) are determined by the body’s DNA. Sometimes, abnormal changes called “mutations” can occur to your DNA.
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Diseases caused by protozoa Trypanosomiasis This is a protozoan disease of animals and humans caused by parasites of the genus Trypanosoma, which are found in blood plasma, various body tissues and fluids. Theileriosis (East cost fever) • East coast fever is a sub acute haemoprotozoan disease of cattle caused by Theileria parva. Theileriosis is characterized by fever, enlarged lymph nodes, dyspnea and death. In chronic cases loss of condition, emaciation, diarrhea, blindness, etc. can be seen.
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Biology Causal Agents: Protozoan hemoflagellates belonging to the complex Trypanosoma brucei. Two subspecies that are morphologically indistinguishable cause distinct disease patterns in humans: T. b. gambiense causes West African sleeping sickness and T. b. rhodesiense causes East African sleeping sickness.ausal Agents: Protozoan hemoflagellates belonging to the complex Trypanosoma brucei. Two subspecies that are morphologically indistinguishable cause distinct disease patterns in humans: T. b. gambiense causes West African sleeping sickness and T. b. rhodesiense causes East African sleeping sickness.
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Von Willebrand disease Von Willebrand disease is caused by a deficiency of von Willebrand factor. Von Willebrand factor helps blood platelets clump together and stick to the blood vessel wall, which is necessary for normal blood clotting. There are several types of von Willebrand disease. A family history of a bleeding disorder is the primary risk factor.
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Overview Causes of Guillain-Barré syndrome. Guillain-Barré syndrome is thought to be caused by a problem with the immune system, the body's natural defence against illness and infection. Normally the immune system attacks any germs that get into the body.
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Rare genetic mutation confirmed as a cause of Tourette Syndrome Rare genetic mutation confirmed as a cause of Tourette Syndrome. Brain researchers say they have confirmed for the first time that a rare genetic mutation can cause some cases of Tourette syndrome, with the fault disrupting production of histamine in the brain. Tics are repetitive movements and vocal sounds, and they are unwanted and involuntary - they cannot be controlled.
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Genetics of Waardenburg Syndrome Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss, dystopia canthorum (ie, lateral displacement of the inner canthi of the eyes), and retinal pigmentary differences.
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- Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet. Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene.
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Waardenburg syndrome A diagnosis of Waardenburg syndrome (WS) is made based on the presence of signs and symptoms. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor of the following criteria:
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- Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to the FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin.
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Ehrlichiosis Ehrlichiosis is caused by bacteria that belong to the family called Rickettsiae. Rickettsial bacteria cause a number of serious diseases worldwide, including Rocky Mountain spotted fever and typhus. All of these diseases are spread to humans by a tick, flea, or mite bite.
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bovine bovine petechial fever. is caused by Ehrlichia ondiri and occurs in Kenya and possibly Tanzania in cattle grazing thick scrub land or indigenous forest areas to 1,500-3,000 meter altitudes. It is manifest by fever and submucosal and serosal hemorrhages. There may be epistaxis and other evidence of a bleeding tendency.
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Heart Disease and Marfan Syndrome Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, an essential component of connective tissue that contributes to its strength and elasticity. In most cases, Marfan syndrome is inherited from a parent, but 1 in 4 cases occurs in people with no known family history of the disease.
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Prader-Willi Syndrome Causes. Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most persons with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome.
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Marfanâs syndrome 1 Enlarged aorta or floppy mitral valve. 2  Caused by a mutation in the fibrillin-1 gene that tells the body how to make the protein fibrillin that makes up connective tissue. 3  Connective tissue is found in all body systems; eyes, muscles, ligaments, skin, heart, blood vessels, lungs, nervous system.
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Overview Causes. Prader-Willi syndrome is a genetic disorder, a condition caused by an error in one or more genes. Although the exact genes responsible for Prader-Willi syndrome haven't been identified, the problem lies in a particular region of chromosome 15.rader-Willi syndrome disrupts the normal functions of a portion of the brain called the hypothalamus. The hypothalamus controls hunger and thirst and releases hormones that prompt the release of other substances responsible for growth and sexual development.
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Marfan Syndrome Overview. Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.Most people who have Marfan syndrome inherit it from their parents.arfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue. Most people who have Marfan syndrome inherit it from their parents.
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What is Prader-Willi syndrome? PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, individuals inherit one copy of chromosome 15 from their mother and one from their father. The genes in the PWS region are normally only active on the chromosome that came from the father.
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Genetics of Waardenburg Syndrome Waardenburg anophthalmia syndrome has also been described in children with a homozygous mutation in the SPARC -related modular calcium-binding protein 1 gene (SMOC1). Mutations in the genes PAX3 and MITF have been described in WS, which is clinically characterized by congenital hearing loss and pigmentation anomalies.
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- Rubella, also known as German measles, is an infectious disease caused by the rubella virus. The virus passes from person-to-person via droplets in the air expelled when infected people cough or sneeze-the virus may also be present in the urine, feces and on the skin.
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- Werner syndrome: Introduction. Werner syndrome: Werner syndrome is a premature aging disease that begins in adolescence or early adulthood and results in the appearance of old age by 30-40 years of age. (Source: Genes and Disease by the National Center for Biotechnology) ...more about Werner syndrome.esearch the causes of these diseases that are similar to, or related to, Werner syndrome: 1  Autosomal recessive disorder. 2  Accelerated aging. 3  Adult progeria. 4  Heart disease. 5  Cancer. 6  Diabetes mellitus.