| H00784 | |
| H number | H00784 |
| Name | Localized autosomal recessive hypotrichosis |
| Description | 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. |
| Category | Skin disease |
| Network | - |
| Gene | (LAH1) DSG4 [HSA:147409] [KO:K07599] (LAH2) LIPH [HSA:200879] [KO:K19404] (LAH3) P2Y5 [HSA:10161] [KO:K04273] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC21.2 ICD-10: L65.8 MeSH: C564312 C536973 C566950 OMIM: 607903 604379 278150 |
| Reference | PMID:12705872 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 PMID:17392831 AUTHORS Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM TITLE Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. JOURNAL J Invest Dermatol 127:1779-82 (2007) DOI:10.1038/sj.jid.5700791 PMID:18297070 AUTHORS 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 TITLE G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. JOURNAL Nat Genet 40:329-34 (2008) DOI:10.1038/ng.84 PMID:17095700 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 PMID:11564167 AUTHORS Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M, Cotsarelis G TITLE Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. JOURNAL J Invest Dermatol 117:612-7 (2001) DOI:10.1046/j.0022-202x.2001.01438.x |