| H01158 | |
| H番号 | H01158 |
| 名称 | 全身性脱毛症 |
| 概要 | Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | HR [HSA:55806] [KO:K00478] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | バリシチニブ [DR:D10308] (脱毛部位が広範囲に及ぶ) リトレシチニブトシル酸塩 [DR:D11970] |
| コメント | - |
| リンク | ICD-11: ED70.2 ICD-10: L63.1 MeSH: C537055 OMIM: 203655 |
| 文献 | PMID:21272494 著者 Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N タイトル Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. 雑誌 Dermatol Online J 17:3 (2011) PMID:9445480 著者 Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM タイトル Alopecia universalis associated with a mutation in the human hairless gene. 雑誌 Science 279:720-4 (1998) DOI:10.1126/science.279.5351.720 PMID:9736769 著者 Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM タイトル Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. 雑誌 Hum Mol Genet 7:1671-9 (1998) DOI:10.1093/hmg/7.11.1671 |