Details of Disease

General Information of Disease (ID: DIS1D0YQ)

Disease Name Microphthalmia, syndromic 2
Synonyms
MAA2 (formerly); syndromic microphthalmia type 2; microphthalmia, cataracts, radiculomegaly, and septal heart defects; ANOP2 (formerly); microphthalmia cataracts radiculomegaly and septal heart defects; MCOPS2; OFCD syndrome; microphthalmia syndromic 2; microphthalmia, syndromic 2, X-linked dominant; microphthalmia, syndromic type 2; microphthalmia, syndromic 2; oculofaciocardiodental syndrome; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
Disease Hierarchy
DISR3JBJ: Syndromic microphthalmia
DIS1D0YQ: Microphthalmia, syndromic 2
Disease Identifiers
MONDO ID
MONDO_0010261
MESH ID
C537465
UMLS CUI
C1846265
OMIM ID
300166
MedGen ID
337547
Orphanet ID
2712
SNOMED CT ID
699300009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LAMB3 TT2WOUQ Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NFIC OTLMCUIB Strong Altered Expression [2]
BCOR OTG013AX Definitive X-linked [3]
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References

1 Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26.
2 Nuclear import of transcriptional corepressor BCOR occurs through interaction with karyopherin expressed in human periodontal ligament.Biochem Biophys Res Commun. 2018 Dec 9;507(1-4):67-73. doi: 10.1016/j.bbrc.2018.10.158. Epub 2018 Nov 2.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.