Abbreviations ALGS: Alagille Syndrome
ASD: Atrial septal defect DOL: Day of life NGS: Next Generation Sequencing TOF: Tetralogy of Fallot VSD: Ventricular septal defect.
A person with Alagille A person with Alagille syndrome
has fewer than the syndrome has fewer than the normal number of small bile normal number of small bile ducts in the liver.
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
. Clin Genet 2012; 82:33-40
Involvement of the NOTCH pathway in the craniofacial phenotype of patients with Alagille Syndrome
and Hajdu-Cheney Syndrome
Congenital heart disease Gene mutation Aortic valve degenerative RBP-J[kappa] disease Left ventricular outflow Notch 1 tract defects Bicuspid aortic valve disease Notch 1-4, Jagged 1, Hes 1, Hey 1, Hey 2 Aortic valve calcification Notch 1, Hey 1, Hey 2 Pulmonic stenosis Jagged 1 Tetralogy of Fallot Jagged 1 Mitral valve disease HRT 2 Tricuspid valve disease HRT 2 Ventricular septal defect HRT 2 Atrial septal defect HRT 2 Pericardial distension Notch 1, RBP-J[kappa] Alagille syndrome
Notch 2, Jagged 1, HRT 2, Hey 2 RBP-J[kappa]: recombination signal binding protein for immunoglobulin J[kappa] region; Hes: hairy and enhancer of split: Hey: hairy/enhancer of split-related with YRPW motif; HRT: hairy-related transcription.
He is working with Kathleen Loomes of Perm's Perelman School of Medicine and the Children's Hospital of Pennsylvania to study pediatric patients with Alagille syndrome
to find out whether their bone abnormalities are indeed connected to Jagged-1 malfunctions.
Aged two, Lydia was also diagnosed with Alagille syndrome
, a rare disorder that affects the liver and means Lydia requires daily medication and may, in the future, require further surgery.
These include congenital or acquired infections, metabolic conditions (such as galactosaemia), endocrine disease (such as hypothyroidism), toxins, birth asphyxia, and biliary hypoplasia (such as Alagille syndrome
The most common pediatric liver diseases or disorders include: Biliary Atresia, Alagille Syndrome
and metabolic liver diseases.
Oliver Warmington, whose parents, Dean and Emma Warmington, both 26, come from Woodside Avenue North, Styvechale, was born with the rare condition Alagille Syndrome
At first, health visitors thought he was suffering from a type of infant jaundice, but then Alagille Syndrome
ENPNewswire-June 19, 2019--Retrophin Announces Cooperative Research and Development Agreement with NCATS and the Alagille Syndrome
Alliance to Identify Potential Therapeutics for Alagille Syndrome
Albireo Pharma announced that clinical data from a Phase 2 study of lead product candidate odevixibat or A4250, a highly potent and selective inhibitor of the ileal bile acid transporter, IBAT, in biliary atresia, Alagille syndrome
and progressive familial intrahepatic cholestasis, PFIC, were presented today at the 2019 European Society for Paediatric Gastroenterology, Hepatology and Nutrition Annual Meeting in Glasgow, Scotland.
Maralixibat is under development for Alagille syndrome
and progressive familial intrahepatic cholestasis.
Such therapies may be particularly beneficial for individuals at high risk of aneurysm formation, including patients with severe hypertension, unilateral carotid artery occlusions, cerebral arteriovenous malformations and aneurysmal cerebral arteriopathies such as Tuberous Sclerosis, Alagille syndrome
and Sickle cell disease.