H01286 | |
H number | H01286 |
Name | Microtia hearing impairment and cleft palate |
Description | Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has been reported that a mutation in the HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. |
Category | Congenital malformation |
Network | - |
Gene | HOXA2 [HSA:3199] [KO:K09302] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2H.Y ICD-10: Q87.0 MeSH: C567359 OMIM: 612290 |
Reference | PMID:18394579 AUTHORS Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G TITLE A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. JOURNAL Am J Hum Genet 82:982-91 (2008) DOI:10.1016/j.ajhg.2008.02.015 PMID:22106030 AUTHORS Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC TITLE Microtia: epidemiology and genetics. JOURNAL Am J Med Genet A 158A:124-39 (2012) DOI:10.1002/ajmg.a.34352 |