| H00667 | |
| H番号 | H00667 |
| 名称 | 縮毛症 |
| 概要 | 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). |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC21.0 ICD-10: Q84.2 MeSH: C564735 OMIM: 194300 278150 604379 616760 |
| 文献 | PMID:21890491 著者 McLean WH, Moore CB タイトル Keratin disorders: from gene to therapy. 雑誌 Hum Mol Genet 20:R189-97 (2011) DOI:10.1093/hmg/ddr379 PMID:20346438 (KRT74) 著者 Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM タイトル Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 雑誌 Am J Hum Genet 86:632-8 (2010) DOI:10.1016/j.ajhg.2010.02.025 PMID:18297072 (LPAR6) 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:18830268 (LIPH) 著者 Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM タイトル Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 雑誌 J Invest Dermatol 129:622-8 (2009) DOI:10.1038/jid.2008.290 PMID:26160856 (KRT25) 著者 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 タイトル A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 雑誌 J Med Genet 52:676-80 (2015) DOI:10.1136/jmedgenet-2015-103255 |