KEGG DISEASE: Alagille syndrome

KEGG

DISEASE: Alagille syndrome

Entry

H00551                      Disease

Name

Alagille syndrome

Description

Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the liver, biliary tract, pancreas or spleen
    LB20  Structural developmental anomalies of gallbladder, bile ducts or liver
     H00551  Alagille syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06511  NOTCH signaling
   H00551  Alagille syndrome

Pathway

Notch signaling pathway

Network

nt06511 NOTCH signaling

Gene

(ALGS1) JAG1 [HSA:182] [KO:K06052]
(ALGS2) NOTCH2 [HSA:4853] [KO:K20994]

Drug

Maralixibat chloride [DR:D10952]
Odevixibat [DR:D11716]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Richards AA, Garg V

Title

Genetics of congenital heart disease.

Journal

Curr Cardiol Rev 6:91-7 (2010)
DOI:10.2174/157340310791162703

Reference

Authors

McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB

Title

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Journal

Am J Hum Genet 79:169-73 (2006)
DOI:10.1086/505332

Reference

Authors

Shifley ET, Cole SE

Title

The vertebrate segmentation clock and its role in skeletal birth defects.

Journal

Birth Defects Res C Embryo Today 81:121-33 (2007)
DOI:10.1002/bdrc.20090

LinkDB

» Japanese version

DBGET integrated database retrieval system