Details of Disease | DrugMAP

General Information of Disease (ID: DISU1634)

Disease Name	Foveal hypoplasia 1
Synonyms	FVH1; O Donnell Pappas syndrome; foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts; foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; foveal hypoplasia, presenile cataract; PAX6 foveal hypoplasia; foveal hypoplasia caused by mutation in PAX6; foveal hypoplasia 1; foveal hypoplasia type 1
Definition	Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.
Disease Hierarchy	DISENLGC: Foveal hypoplasia DISKX7OJ: PAX6-related ocular dysgenesis DISU1634: Foveal hypoplasia 1
Disease Identifiers	MONDO ID MONDO_0007628 UMLS CUI C3805604 OMIM ID 136520 MedGen ID 811934

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAX6	OTOC9876	Definitive	Autosomal dominant	[1]
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References

1	Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet. 1999 Feb;8(2):165-72. doi: 10.1093/hmg/8.2.165.