Details of Disease

General Information of Disease (ID: DISJESC5)

Disease Name Microphthalmia, isolated, with coloboma 7
Synonyms
MCOPCB7; microphthalmia, isolated, with coloboma caused by mutation in ABCB6; ABCB6 microphthalmia, isolated, with coloboma; microphthalmia, isolated, with coloboma 7; microphthalmia, isolated, with coloboma type 7
Definition Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.
Disease Hierarchy
DISLSEUJ: Microphthalmia, isolated, with coloboma
DISJESC5: Microphthalmia, isolated, with coloboma 7
Disease Identifiers
MONDO ID
MONDO_0013783
UMLS CUI
C3281027
OMIM ID
614497
MedGen ID
482657

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCB6 DTF9Y2V Limited Autosomal dominant [1]
ABCB6 DTF9Y2V Limited Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCB6 OTPGZFES Limited Autosomal dominant [1]
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References

1 ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5.
2 Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.