I was finally diagnosed at the age of 6 and half with Alagille Syndrome
Box 2: Major diagnostic criteria of Alagille Syndrome
[2, 4, 7, 8].
Courtney Williams with her son Alex-James, who suffers from Alagille syndrome
, which affects his liver and means he is constantly itching
Aaron has Alagille Aaron has Alagille syndrome
, which is usually inherited but in him was a spontaneous spontaneous mutation.
Notch2 mutations in Alagille syndrome
. J Med Genet 2012; 49: 138-144, doi: 10.1136/jmedgenet2011-100544.
Susan, from Leith, Edinburgh, had her life saved by a transplant when she was just five, having been born with an extremely rare genetic disorder called Alagille syndrome
Patients with a rare disease known as Alagille syndrome
frequently have mutations in the gene that codes for Jagged-1.
Aarron has a condition called Alagille syndrome
that affects the liver, heart, kidneys and other systems of the body.
Mutations in the human jagged 1 gene are responsible for Alagille syndrome
. Nat Genet 1997; 16: 235-42.
Genetic diseases among the patients were Wilson's disease, muscular dystrophy, alpha-1-antitrypsin deficiency, Alagille syndrome
, hereditary fructose intolerance, glycogen storage disease, ornithine transcarbamylase deficiency and Shwachman's syndrome.