Details of Disease

General Information of Disease (ID: DISA55ZA)

Disease Name Isolated anophthalmia-microphthalmia syndrome
Synonyms
isolated pure microphthalmia; clinical anophthalmia; isolated anophthalmia - microphthalmia; primitive anophthalmia; MAC spectrum; nonsyndromic anophthalmia-microphthalmia syndrome; microphthalmia-anophthalmia-coloboma spectrum
Definition Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.
Disease Hierarchy
DISB52BH: Eye disorder
DISA55ZA: Isolated anophthalmia-microphthalmia syndrome
Disease Identifiers
MONDO ID
MONDO_0016764
UMLS CUI
C5679828
MedGen ID
1826144
Orphanet ID
2542

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VSX2 OTW2E47S Supportive Autosomal dominant [1]
ALDH1A3 OT1C9NKQ Supportive Autosomal dominant [3]
GDF3 OTD3KGJK Supportive Autosomal dominant [4]
OTX2 OTTV05B1 Supportive Autosomal dominant [2]
RAX OTJ3YCE7 Supportive Autosomal dominant [2]
SOX2 OTFAWCAU Supportive Autosomal dominant [2]
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⏷ Show the Full List of 6 DOT(s)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SOX2 TTCNOT6 Supportive Autosomal dominant [2]
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References

1 Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401. doi: 10.1038/78071.
2 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7.
3 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.
4 Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28.