Details of Disease

General Information of Disease (ID: DISA9P0U)

Disease Name Microphthalmia, syndromic 1
Synonyms
microphthalmia syndromic 4; Lenz microphthalmia syndrome; Lenz dysplasia; microphthalmia with ankyloblepharon and intellectual disability; microphthalmia, syndromic 1; MAA, formerly; MCOPS1; microphthalmia, syndromic 4, formerly; ANOP1, formerly; MCOPS4; syndromic microphthalmia type 4; MCOPS4, formerly; microphthalmia, syndromic type 1; microphthalmia with ankyloblepharon and mental retardation
Disease Hierarchy
DISR3JBJ: Syndromic microphthalmia
DISVSZYQ: NAA10-related syndrome
DISA9P0U: Microphthalmia, syndromic 1
Disease Identifiers
MONDO ID
MONDO_0010671
MESH ID
C537464
UMLS CUI
C0796016
OMIM ID
309800
MedGen ID
162898
Orphanet ID
85275
SNOMED CT ID
438504004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BCOR OTG013AX Strong Genetic Variation [1]
NAA10 OTYB9R6I Definitive X-linked [2]
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References

1 Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.Am J Med Genet A. 2018 Dec;176(12):2872-2876. doi: 10.1002/ajmg.a.40640. Epub 2018 Nov 18.
2 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.