Alagille Syndrome

The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family.

Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body.

Support network for anyone who cares about people with Alagille syndrome, a rare, multi-symptom genetic disorder.

Alagille syndrome, an autosomal dominant disorder with a wide range of features and manifestations.

Corrective surgery is sometimes needed to repair heart defects associated with Alagille Syndrome.

JAG1 is a protein associated with Alagille syndrome.

This phenotype resembles Alagille syndrome, a hallmark of which is mutations in Jagged1.

Many people with Alagille syndrome have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin.

RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome.

Narrowed and malformed bile ducts in the liver produce many of the health problems associated with Alagille syndrome.

Alagille syndrome.

NOTCH2 mutations are also associated with Alagille syndrome.

Most cases of Alagille syndrome occur due to mutations in one copy of the JAG1 gene.

Alagille syndrome (associated with HCC)

The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.

NOTCH2 is associated with Alagille syndrome and Hajdu-Cheney syndrome.

There are also many pediatric liver disease, including biliary atresia, alpha-1 antitrypsin deficiency, alagille syndrome, progressive familial intrahepatic cholestasis to name but a few.

Microdeletion of the 20p12 gene corresponding to JAG1 results in Alagille syndrome, similar to the inheritance pattern of Williams syndrome.

In Alagille syndrome, the bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream.

Certain conditions have been associated with disc drusen such as retinitis pigmentosa, angioid streaks, Usher syndrome, Noonan syndrome and Alagille syndrome.

Bourdeaut F, Guiochon-Mantel A, Fabre M, et al.: Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders.

Also, because the pulmonary arteries are often narrow in patients with Alagille syndrome, a catheterization process similar to angioplasty may be used to widen the arteries to reduce pressure on the heart's pumping valves.

Disorders associated with disc elevation include: Alagille syndrome, Down syndrome, Kenny-Caffey syndrome, Leber Hereditary Optic Neuropathy and linear nevus sebaceous syndrome.

Specifically, products of lipid peroxidation are elevated in patients with hepatic hypoxia/reperfusion, obstructive liver disease, alcoholic liver disease, Wilson's disease, Alagille syndrome, sepsis, and inflammatory liver diseases [ 11, 12, 13, 14, 15].

If the neonatal jaundice does not clear up with simple phototherapy, other causes such as biliary atresia, PFIC, bile duct paucity, Alagille syndrome, alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered.