Details of Disease | DrugMAP

General Information of Disease (ID: DISTBOXP)

Disease Name	Microphthalmia, isolated, with coloboma 3
Synonyms	microphthalmia, cataracts, and iris abnormalities; MCOPCB3; microphthalmia, colobomatous, isolated 3; microphthalmia with coloboma 3; microphthalmia, isolated, with coloboma type 3; microphthalmia, isolated, with coloboma 3; microphthalmia, isolated, with coloboma caused by mutation in VSX2; VSX2 microphthalmia, isolated, with coloboma
Definition	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.
Disease Hierarchy	DISLSEUJ: Microphthalmia, isolated, with coloboma DISKMF8U: Isolated microphthalmia 2 DISTBOXP: Microphthalmia, isolated, with coloboma 3
Disease Identifiers	MONDO ID MONDO_0012408 MESH ID C566447 UMLS CUI C1864721 OMIM ID 610092 MedGen ID 400598

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
VSX2	OTW2E47S	Definitive	Autosomal recessive	[1]
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References

1	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.