KEGG   DISEASE: Hypotrichosis
Entry
H00786                      Disease                                
Name
Hypotrichosis
  Subgroup
Hereditary hypotrichosis simplex (HTSS)
Localized autosomal recessive hypotrichosis [DS:H00784]
Marie-Unna hereditary hypotrichosis [DS:H00858]
Description
Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HSS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH). HSS 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
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H00786  Hypotrichosis
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00786  Hypotrichosis
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]
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
Reference
  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
Reference
PMID:20393562 (APCDD1)
  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
Reference
PMID:10793007 (CDSN)
  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
Reference
PMID:21188418 (KRT74)
  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
Reference
PMID:19122663 (HRURF HR)
  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
Reference
PMID:23099647 (EPS8L3)
  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
Reference
PMID:12705872 (DSG4)
  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
Reference
PMID:17095700 (LIPH)
  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
Reference
PMID:18297072 (LPAR6)
  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
Reference
PMID:23246290 (SNRPE)
  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
Reference
PMID:21412954 (RPL21)
  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
Reference
PMID:22592156 (KRT71)
  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
Reference
PMID:30401459 (LSS)
  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
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