ALGSbase-A database on Alagille syndrome

Welcome to AGEX Database

Alagille syndrome is a rare paediatric liver disorder, primarily affecting the liver. While hepatobiliary manifestations are prominent, ALGS is often associated with additional systemic complications involving the heart, eyes, lipid metabolism, and kidneys. Symptoms vary widely between patients, highlighting the need for correlations between phenotype and genotype to improve diagnosis and management. To support this goal, we present the Alagille Database, a curated collection of mutations identified from literature and unpublished cases reported by clinicians. This database compiles mutations associated with the JAG1 and NOTCH2 genes in diverse populations, which often present only clinical symptoms without detailed mechanistic insights, making them ideal candidates for further functional studies and potential therapeutic development. The database also includes in silico analyses to assess the pathogenicity of genetic variants.

We welcome contributions of unpublished ALGS mutations to enhance the database. If you are working with an ALGS cohort and wish to collaborate for the benefit of the scientific community, please reach out to Prof. Deepti Abbey at adeepti@iitd.ac.in.

AGEX Features

JAG1 Variants

JAG1 is the primary gene implicated in Alagille Syndrome.

Mutations in JAG1 occur across various types and domains, with patterns observed across different populations and ethnic backgrounds.

NOTCH2 Variants

Mutations in NOTCH2 are linked to a smaller subset of Alagille Syndrome cases.

These are mostly missense changes that impact regions involved in receptor-ligand signaling.

ACMG classifications

Prediction of mutation effects using PolyPhen and MutationTaster for disease relevance analysis.

AGEX - Alagille Genetics Exploration Database

Welcome to AGEX Database

AGEX Features

JAG1 Variants

NOTCH2 Variants

ACMG classifications

Citation