| H01158 | |
| H number | H01158 |
| Name | Alopecia universalis |
| Description | Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with alopecia universalis. It is inherited in autosomal recessive manner. |
| Category | Skin disease |
| Network | - |
| Gene | HR [HSA:55806] [KO:K00478] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Baricitinib [DR:D10308] Ritlecitinib tosylate [DR:D11970] |
| Comment | - |
| Other DBs | ICD-11: ED70.2 ICD-10: L63.1 MeSH: C537055 OMIM: 203655 |
| Reference | PMID:21272494 AUTHORS Nucara S, Colao E, Mangone G, Baudi F, Fabiani F, Nocera D, Passafaro G, Longo T, Laria AE, Malatesta P, Amato R, Trapasso F, Perrotti N TITLE Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. JOURNAL Dermatol Online J 17:3 (2011) PMID:9445480 AUTHORS Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM TITLE Alopecia universalis associated with a mutation in the human hairless gene. JOURNAL Science 279:720-4 (1998) DOI:10.1126/science.279.5351.720 PMID:9736769 AUTHORS Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM TITLE Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. JOURNAL Hum Mol Genet 7:1671-9 (1998) DOI:10.1093/hmg/7.11.1671 |