Details of Disease

General Information of Disease (ID: DISB3GQC)

Disease Name Microtia
Synonyms anotia; M-A; microtia-anotia; microtia, congenital; microtias, congenital; congenital microtias
Definition
A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.
Disease Hierarchy
DISUFSPX: Otorhinolaryngologic disease
DIS7GG31: Developmental defect during embryogenesis
DISB3GQC: Microtia
Disease Identifiers
MONDO ID
MONDO_0010920
MESH ID
C563457
UMLS CUI
C1833486
OMIM ID
600674
MedGen ID
322201
HPO ID
HP:0008551
Orphanet ID
83463
SNOMED CT ID
35045004

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 Supportive 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.