| H00858 | |
| H番号 | H00858 |
| 名称 | Marie-Unna 型先天性貧毛症 |
| 概要 | Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair is progressively lost in this disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (MUHH1) HR [HSA:55806] [KO:K00478] (MUHH2) EPS8L3 [HSA:79574] [KO:K17277] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC21.2 ICD-10: Q84.0 MeSH: C567718 OMIM: 146550 612841 |
| 文献 | PMID:21504454 著者 Podjasek JO, Hand JL タイトル Marie-Unna hereditary hypotrichosis: case report and review of the literature. 雑誌 Pediatr Dermatol 28:202-4 (2011) DOI:10.1111/j.1525-1470.2011.01387.x PMID:19122663 著者 Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X タイトル Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. 雑誌 Nat Genet 41:228-33 (2009) DOI:10.1038/ng.276 PMID:20659777 著者 Redler S, Kruse R, Eigelshoven S, Hanneken S, Refke M, Wen Y, Zhang X, Cichon S, Betz RC, Nothen MM タイトル Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. 雑誌 J Am Acad Dermatol 64:e45-50 (2011) DOI:10.1016/j.jaad.2010.06.013 PMID:23099647 著者 Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ タイトル Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. 雑誌 J Med Genet 49:727-30 (2012) DOI:10.1136/jmedgenet-2012-101134 |