H00786 | |
H number | H00786 |
Name | Hypotrichosis |
Description | 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. |
Category | Skin disease |
Network | - |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: EC21.2 ICD-10: L65.9 MeSH: D007039 OMIM: 605389 146520 613981 146550 612841 607903 604379 278150 615059 615885 615896 618275 620177 |
Reference | PMID:11994181 AUTHORS Vazquez MR, Rodriguez RR, Tapia AG, Diez LI TITLE Hereditary hypotrichosis simplex of the scalp. JOURNAL Pediatr Dermatol 19:148-50 (2002) DOI:10.1046/j.1525-1470.2002.00043.x PMID:20393562 (HYPT1) AUTHORS Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou AH, Barres BA, Christiano AM TITLE APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. JOURNAL Nature 464:1043-7 (2010) DOI:10.1038/nature08875 PMID:10793007 (HYPT2) AUTHORS 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 TITLE A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. JOURNAL Am J Hum Genet 66:1979-83 (2000) DOI:10.1086/302934 PMID:21188418 (HYPT3) AUTHORS Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W TITLE Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. JOURNAL Hum Genet 129:419-24 (2011) DOI:10.1007/s00439-010-0938-9 PMID:19122663 (HYPT4) AUTHORS 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 TITLE Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. JOURNAL Nat Genet 41:228-33 (2009) DOI:10.1038/ng.276 PMID:23099647 (HYPT5) AUTHORS 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 TITLE Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. JOURNAL J Med Genet 49:727-30 (2012) DOI:10.1136/jmedgenet-2012-101134 PMID:12705872 (HYPT6) AUTHORS 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 TITLE Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. JOURNAL Cell 113:249-60 (2003) DOI:10.1016/S0092-8674(03)00273-3 PMID:17095700 (HYPT7) AUTHORS Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI TITLE Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. JOURNAL Science 314:982-5 (2006) DOI:10.1126/science.1133276 PMID:18297072 (HYPT8) AUTHORS Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM TITLE Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. JOURNAL Nat Genet 40:335-9 (2008) DOI:10.1038/ng.100 PMID:23246290 (HYPT11) AUTHORS 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 TITLE Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. JOURNAL Am J Hum Genet 92:81-7 (2013) DOI:10.1016/j.ajhg.2012.10.022 PMID:21412954 (HYPT12) AUTHORS Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J TITLE Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. JOURNAL Hum Mutat 32:710-4 (2011) DOI:10.1002/humu.21503 PMID:22592156 (HYPT13) AUTHORS Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y TITLE A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. JOURNAL J Invest Dermatol 132:2342-9 (2012) DOI:10.1038/jid.2012.154 PMID:30401459 (HYPT14) AUTHORS 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 TITLE Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. JOURNAL Am J Hum Genet 103:777-785 (2018) DOI:10.1016/j.ajhg.2018.09.011 PMID:32336749 (HYPT15) AUTHORS 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 TITLE Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. JOURNAL Genet Med 22:1227-1234 (2020) DOI:10.1038/s41436-020-0794-5 |