| H00786 | |
| H番号 | H00786 |
| 名称 | 乏毛症 |
| 概要 | Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH). HHS is a rare autosomal dominant form that affects men and women equally. It is characterized by progressing hair loss from childhood, culminating in an almost complete loss of scalp hair by the third decade. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | (HYPT1) APCDD1 [HSA:147495] [KO:K25812] (HYPT2) CDSN [HSA:1041] [KO:K23457] (HYPT3) KRT74 [HSA:121391] [KO:K07605] (HYPT4) HRURF [HSA:120766137] (HYPT4/MUHH1) HR [HSA:55806] [KO:K00478] (HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277] (HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599] (HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404] (HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273] (HYPT11) SNRPE [HSA:6635] [KO:K11097] (HYPT12) RPL21 [HSA:6144] [KO:K02889] (HYPT13) KRT71 [HSA:112802] [KO:K07605] (HYPT14) LSS [HSA:4047] [KO:K01852] (HYPT15) C3orf52 [HSA:79669] |
| 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: L65.9 MeSH: D007039 OMIM: 605389 146520 613981 146550 612841 607903 604379 278150 615059 615885 615896 618275 620177 |
| 文献 | PMID:11994181 著者 Vazquez MR, Rodriguez RR, Tapia AG, Diez LI タイトル Hereditary hypotrichosis simplex of the scalp. 雑誌 Pediatr Dermatol 19:148-50 (2002) DOI:10.1046/j.1525-1470.2002.00043.x PMID:20393562 (HYPT1) 著者 Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM タイトル APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 雑誌 Nature 464:1043-7 (2010) DOI:10.1038/nature08875 PMID:10793007 (HYPT2) 著者 Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nothen MM タイトル A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. 雑誌 Am J Hum Genet 66:1979-83 (2000) DOI:10.1086/302934 PMID:21188418 (HYPT3) 著者 Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W タイトル Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 雑誌 Hum Genet 129:419-24 (2011) DOI:10.1007/s00439-010-0938-9 PMID:19122663 (HYPT4) 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:23099647 (HYPT5) 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 PMID:12705872 (HYPT6) 著者 Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM タイトル Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. 雑誌 Cell 113:249-60 (2003) DOI:10.1016/S0092-8674(03)00273-3 PMID:17095700 (HYPT7) 著者 Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI タイトル Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 雑誌 Science 314:982-5 (2006) DOI:10.1126/science.1133276 PMID:18297072 (HYPT8) 著者 Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM タイトル Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 雑誌 Nat Genet 40:335-9 (2008) DOI:10.1038/ng.100 PMID:23246290 (HYPT11) 著者 Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schafer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrandiz C, Nothen MM, Fischer U, Betz RC タイトル Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 雑誌 Am J Hum Genet 92:81-7 (2013) DOI:10.1016/j.ajhg.2012.10.022 PMID:21412954 (HYPT12) 著者 Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J タイトル Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 雑誌 Hum Mutat 32:710-4 (2011) DOI:10.1002/humu.21503 PMID:22592156 (HYPT13) 著者 Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y タイトル A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 雑誌 J Invest Dermatol 132:2342-9 (2012) DOI:10.1038/jid.2012.154 PMID:30401459 (HYPT14) 著者 Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmuller J, Nurnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lutjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC タイトル Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 雑誌 Am J Hum Genet 103:777-785 (2018) DOI:10.1016/j.ajhg.2018.09.011 PMID:32336749 (HYPT15) 著者 Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E タイトル Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. 雑誌 Genet Med 22:1227-1234 (2020) DOI:10.1038/s41436-020-0794-5 |