Details of Disease | DrugMAP

General Information of Disease (ID: DISXXP4R)

Disease Name	Anterior segment dysgenesis 3
Synonyms	glaucoma iridogoniodysgenesia; glaucoma iridogoniodysplasia, familial; iris hypoplasia with glaucoma; iridogoniodysgenesis, type 1; iridogoniodysgenesis anomaly, autosomal dominant; IRID1; FOXC1 iridogoniodysgenesis; anterior segment dysgenesis 3, multiple subtypes; ASGD3; anterior segment dysgenesis 3; IGDA syndrome; iridogoniodysgenesis caused by mutation in FOXC1; iridogoniodysgenesis type 1; IGDA
Definition	An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)\|Editor note: check GARD re 2482
Disease Hierarchy	DISJYSR1: Hereditary glaucoma DISN0FUI: Iris disorder DISYOU7C: FOXC1-related anterior segment dysgenesis DISXXP4R: Anterior segment dysgenesis 3
Disease Identifiers	MONDO ID MONDO_0024456 MESH ID C535535 UMLS CUI C1866560 MedGen ID 355748

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOXC1	TTNT3YA	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXC1	OTOWZGYO	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.