| H00712 | |
| H番号 | H00712 |
| 名称 | KID/HID 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (KIDAD/HID) GJB2 [HSA:2706] [KO:K07621] (KIDAR) AP1B1 [HSA:162] [KO:K12392] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.2 ICD-10: Q80.8 MeSH: C580224 OMIM: 148210 602540 242150 |
| 文献 | PMID:17381453 著者 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 タイトル Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. 雑誌 Br J Dermatol 156:1015-9 (2007) DOI:10.1111/j.1365-2133.2007.07806.x PMID:9122065 著者 Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R タイトル Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. 雑誌 Pediatr Dermatol 13:105-13 (1996) DOI:10.1111/j.1525-1470.1996.tb01414.x PMID:2191710 著者 Langer K, Konrad K, Wolff K タイトル Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. 雑誌 Br J Dermatol 122:689-97 (1990) DOI:10.1111/j.1365-2133.1990.tb07292.x PMID:16679758 著者 Todt I, Hennies HC, Kuster W, Smolle J, Rademacher G, Mutze S, Basta D, Eisenschenk A, Ernst A タイトル Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. 雑誌 Audiol Neurootol 11:242-8 (2006) DOI:10.1159/000093110 PMID:31630791 著者 Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS タイトル Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 雑誌 Am J Hum Genet 105:1016-1022 (2019) DOI:10.1016/j.ajhg.2019.09.020 |