KEGG DISEASE: Microtia hearing impairment and cleft palate

KEGG

DISEASE: Microtia hearing impairment and cleft palate

Entry

H01286                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H01286  Microtia hearing impairment and cleft palate

Gene

HOXA2 [HSA:3199] [KO:K09302]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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

Reference

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

LinkDB

» Japanese version

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