| H00712 | |
| H number | H00712 |
| Name | KID/HID syndrome |
| Description | Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium may be affected, manifesting as keratitis and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. Recently, autosomal recessive KID syndrome (KIDAR) has been reported. KIDAR is caused by mutations in AP1B1. |
| Category | Congenital malformation |
| Network | - |
| Gene | (KIDAD/HID) GJB2 [HSA:2706] [KO:K07621] (KIDAR) AP1B1 [HSA:162] [KO:K12392] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.2 ICD-10: Q80.8 MeSH: C580224 OMIM: 148210 602540 242150 |
| Reference | PMID:17381453 AUTHORS Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A TITLE Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. JOURNAL Br J Dermatol 156:1015-9 (2007) DOI:10.1111/j.1365-2133.2007.07806.x PMID:9122065 AUTHORS Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R TITLE Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. JOURNAL Pediatr Dermatol 13:105-13 (1996) DOI:10.1111/j.1525-1470.1996.tb01414.x PMID:2191710 AUTHORS Langer K, Konrad K, Wolff K TITLE Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. JOURNAL Br J Dermatol 122:689-97 (1990) DOI:10.1111/j.1365-2133.1990.tb07292.x PMID:16679758 AUTHORS Todt I, Hennies HC, Kuster W, Smolle J, Rademacher G, Mutze S, Basta D, Eisenschenk A, Ernst A TITLE Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. JOURNAL Audiol Neurootol 11:242-8 (2006) DOI:10.1159/000093110 PMID:31630791 AUTHORS Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS TITLE Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. JOURNAL Am J Hum Genet 105:1016-1022 (2019) DOI:10.1016/j.ajhg.2019.09.020 |