KEGG   DISEASE: Woolly hair
Entry
H00667                      Disease                                
Name
Woolly hair
  Subgroup
Autosomal-dominant woolly hair (ADWH)
Autosomal-recessive woolly hair (ARWH)
Woolly hair-skin fragility syndrome (WHSF)
Description
Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly hair can also show varying degrees of sparse hair or hypotrichosis (HYPT).
Category
Congenital malformation
Brite
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
    H00667  Woolly hair
Gene
(ADWH) KRT74 [HSA:121391] [KO:K07605]
(ARWH1/HYPT8) LPAR6 [HSA:10161] [KO:K04273]
(ARWH2/HYPT7) LIPH [HSA:200879] [KO:K19404]
(ARWH3) KRT25 [HSA:147183] [KO:K07604]
(WHSF) TUFT1 [HSA:7286] [KO:K27192]
Other DBs
ICD-11: EC21.0
MeSH: C564735 C536973 C566950 C564359
OMIM: 194300 278150 604379 616760 620415
Reference
PMID:21890491
  Authors
McLean WH, Moore CB
  Title
Keratin disorders: from gene to therapy.
  Journal
Hum Mol Genet 20:R189-97 (2011)
DOI:10.1093/hmg/ddr379
Reference
PMID:20346438 (KRT74)
  Authors
Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM
  Title
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
  Journal
Am J Hum Genet 86:632-8 (2010)
DOI:10.1016/j.ajhg.2010.02.025
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:18830268 (LIPH)
  Authors
Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM
  Title
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
  Journal
J Invest Dermatol 129:622-8 (2009)
DOI:10.1038/jid.2008.290
Reference
PMID:26160856 (KRT25)
  Authors
Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM
  Title
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
  Journal
J Med Genet 52:676-80 (2015)
DOI:10.1136/jmedgenet-2015-103255
Reference
PMID:36689522 (WHSF)
  Authors
Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G, McGrath JA, Banka S
  Title
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
  Journal
Br J Dermatol 188:75-83 (2023)
DOI:10.1093/bjd/ljac026
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