Details of Disease

General Information of Disease (ID: DISTH264)

Disease Name Isolated microphthalmia 8
Synonyms
microphthalmia, isolated 8; isolated microphthalmia caused by mutation in ALDH1A3; microphthalmia, isolated type 8; MCOP8; isolated microphthalmia 8; isolated microphthalmia type 8; ALDH1A3 isolated microphthalmia
Definition Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.
Disease Hierarchy
DISLGR9K: Isolated microphthalmia
DISA55ZA: Isolated anophthalmia-microphthalmia syndrome
DISTH264: Isolated microphthalmia 8
Disease Identifiers
MONDO ID
MONDO_0014050
UMLS CUI
C3554524
OMIM ID
615113
MedGen ID
767438

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
ALDH1A3 OT1C9NKQ Strong Autosomal recessive [1]
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References

1 ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.