Details of Disease | DrugMAP

General Information of Disease (ID: DISSZ066)

Disease Name	Anterior segment dysgenesis 4
Synonyms	iridogoniodysgenesis type 2; ASGD4; iris hypoplasia with early-onset glaucoma, autosomal dominant; iridogoniodysgenesis syndrome; iridogoniodysgenesis, type 2; PITX2 iridogoniodysgenesis; iridogoniodysgenesis caused by mutation in PITX2; IRID2; anterior segment dysgenesis 4
Definition	Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.
Disease Hierarchy	DISXDY8A: Iridogoniodysgenesis DISNBLZ5: Rieger anomaly DISSZ066: Anterior segment dysgenesis 4
Disease Identifiers	MONDO ID MONDO_0007662 MESH ID C535536 UMLS CUI C1842031 OMIM ID 137600 MedGen ID 330750

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BARX1	OT2VP73H	Strong	Altered Expression	[1]
PITX2	OTWMXAOY	Definitive	Autosomal dominant	[2]
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References

1	Cloning, characterization, localization, and mutational screening of the human BARX1 gene.Genomics. 2000 Sep 15;68(3):336-42. doi: 10.1006/geno.2000.6307.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.