| H00784 | |
| H番号 | H00784 |
| 名称 | 限局性常染色体劣性遺伝性貧毛症 |
| 概要 | Localized autosomal recessive hypotrichosis (LAH) is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis from almost normal to less dense condition. Patients' skin is normal. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | (LAH1) DSG4 [HSA:147409] [KO:K07599] (LAH2) LIPH [HSA:200879] [KO:K19404] (LAH3) P2Y5 [HSA:10161] [KO:K04273] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC21.2 ICD-10: L65.8 MeSH: C564312 C536973 C566950 OMIM: 607903 604379 278150 |
| 文献 | PMID:12705872 著者 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 タイトル Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. 雑誌 Cell 113:249-60 (2003) DOI:10.1016/S0092-8674(03)00273-3 PMID:17392831 著者 Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM タイトル Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. 雑誌 J Invest Dermatol 127:1779-82 (2007) DOI:10.1038/sj.jid.5700791 PMID:18297070 著者 Pasternack SM, von Kugelgen I, Aboud KA, Lee YA, Ruschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nurnberg P, Nothen MM, Betz RC タイトル G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 雑誌 Nat Genet 40:329-34 (2008) DOI:10.1038/ng.84 PMID:17095700 著者 Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI タイトル Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 雑誌 Science 314:982-5 (2006) DOI:10.1126/science.1133276 PMID:11564167 著者 Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M, Cotsarelis G タイトル Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. 雑誌 J Invest Dermatol 117:612-7 (2001) DOI:10.1046/j.0022-202x.2001.01438.x |