Details of Disease

General Information of Disease (ID: DISL94P1)

Disease Name Isolated microphthalmia 4
Synonyms microphthalmia, isolated 4; isolated microphthalmia caused by mutation in GDF6; microphthalmia, isolated type 4; MCOP4; GDF6 isolated microphthalmia; isolated microphthalmia type 4
Definition Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.
Disease Hierarchy
DISLGR9K: Isolated microphthalmia
DISA55ZA: Isolated anophthalmia-microphthalmia syndrome
DISL94P1: Isolated microphthalmia 4
Disease Identifiers
MONDO ID
MONDO_0013130
MESH ID
C567757
UMLS CUI
C2751307
OMIM ID
613094
MedGen ID
414346

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
GDF6 OTERXWJU Limited Autosomal dominant [1]
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References

1 Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.