Details of Disease

General Information of Disease (ID: DIS3J7QL)

Disease Name Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Synonyms COMMAD; coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD; COMMAD syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3J7QL: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Disease Identifiers
MONDO ID
MONDO_0015014
UMLS CUI
C4310625
OMIM ID
617306
MedGen ID
934592
Orphanet ID
603494

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
MITF OT6XJCZH Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23.