| H00667 | |
| H number | H00667 |
| Name | Woolly hair |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC21.0 ICD-10: Q84.2 MeSH: C564735 OMIM: 194300 278150 604379 616760 |
| 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 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 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 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 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 |