Details of Disease

General Information of Disease (ID: DISVBDJ9)

Disease Name Bilateral microtia-deafness-cleft palate syndrome
Synonyms microtia, hearing impairment, and cleft palate; microtia with or without hearing impairment; microtia, hearing impairment, and cleft palate (AR); microtia with or without hearing impairment (AD)
Definition This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Disease Hierarchy
DISYKSRF: Genetic disease
DISVBDJ9: Bilateral microtia-deafness-cleft palate syndrome
Disease Identifiers
MONDO ID
MONDO_0012854
MESH ID
C567359
UMLS CUI
C2676772
OMIM ID
612290
MedGen ID
382936
Orphanet ID
140963

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
HOXA2 OT6G6ZIK Strong Autosomal dominant [1]
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References

1 HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. Hum Mutat. 2013 Oct;34(10):1347-51. doi: 10.1002/humu.22367. Epub 2013 Jul 11.