| H01372 | |
| H number | H01372 |
| Name | Vitiligo |
| Description | Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1. |
| Category | Skin disease |
| Network | - |
| Gene | (VAMAS1) NLRP1 [HSA:22861] [KO:K12798] (VAMAS2) FOXD3 [HSA:27022] [KO:K09397] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Ruxolitinib phosphate [DR:D09960] |
| Comment | - |
| Other DBs | ICD-11: ED63.0 ICD-10: L80 MeSH: D014820 OMIM: 606579 607836 |
| Reference | PMID:17637824 AUTHORS Jin Y, Birlea SA, Fain PR, Spritz RA TITLE Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. JOURNAL J Invest Dermatol 127:2558-62 (2007) DOI:10.1038/sj.jid.5700953 PMID:22117610 AUTHORS D'Osualdo A, Reed JC TITLE NLRP1, a regulator of innate immunity associated with vitiligo. JOURNAL Pigment Cell Melanoma Res 25:5-8 (2012) DOI:10.1111/j.1755-148X.2011.00942.x PMID:22835073 AUTHORS Colucci R, Lotti T, Moretti S TITLE Vitiligo: an update on current pharmacotherapy and future directions. JOURNAL Expert Opin Pharmacother 13:1885-99 (2012) DOI:10.1517/14656566.2012.712113 PMID:26267147 AUTHORS Schunter JA, Loffler D, Wiesner T, Kovacs P, Badenhoop K, Aust G, Tonjes A, Muller P, Baber R, Simon JC, Fuhrer D, Pfaffle RW, Thiery J, Stumvoll M, Kiess W, Kratzsch J, Korner A TITLE A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies. JOURNAL J Clin Endocrinol Metab 100:E1335-42 (2015) DOI:10.1210/jc.2015-2126 |