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Doctor insights on: Treatment For Alagille Syndrome

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What is the treatment for alagille syndrome?

What is the treatment for alagille syndrome?

Supportive care: There is no known cure for this disease. Treatment is directed toward improving heart effects and diminishing the effects of a failing liver. ...Read more

Dr. Lawrence Prince
75 doctors shared insights

Alagille Syndrome (Definition)

Alagille syndrome is a genetic disorder that affects many of the organ systems of the body, causing a ...Read more


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What are the tests for alagille syndrome?

Genetic test, like : Cgh for an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12. Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested. ...Read more

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What sort of problem is alagille syndrome?

Alagille syndrome: Alagille syndrome is a genetic disorder with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In 1975, alagille et al described several patients with hypoplasia of the hepatic ducts. Typical facial features of alagille syndrome include broad forehead, deep-set eyes and pointed chin. More at: http://emedicine.Medscape.Com/article/926678-overview. ...Read more

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Alagille syndrome info needed. What is it?

Alagille syndrome info needed. What is it?

Alagille syndrome: This is a genetic disorder affecting kidney, liver , heart and other systems. Usually seen in infancy and very early childhood. Face is very similar - deep set eyes, prominent broad forehead, pointed chin. Seeing that it is autosomal dominant there is no cure. Treatment is aimed at dealing with the abnormalities in the various systems affected. ...Read more

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What are the symptoms of alagille syndrome?

What are the symptoms of alagille syndrome?

Jaundice: Alagille syndrome is an autosomal dominant inherited rare condition that primarily affects the liver. Symptoms can be mild or so severe as to require liver transplantation. Jaundice and skin itching are the primary symptoms. ...Read more

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Is their a medicine called uuestrion for alagille syndrome?

Is their a medicine called  uuestrion for alagille syndrome?

Questran (cholestyramine): Questran (cholestyramine) is a medication that is used to reduce serum cholesterol. Alagille syndrome is often marked by high serum cholesterol.. ...Read more

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Which chromosomal mutation occurs in alagille syndrome?

Which chromosomal mutation occurs in alagille syndrome?

Alagille Syndrome is: Caused by an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12. Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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