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Vitiligo-associated multiple autoimmune disease susceptibility 1(VAMAS1)

MedGen UID:
335788
Concept ID:
C1847835
Finding
Synonyms: SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; VAMAS1
 
Gene (location): NLRP1 (17p13.2)
 
Monarch Initiative: MONDO:0011684
OMIM®: 606579

Definition

Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease Susceptibility Additional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, 607836, associated with mutation in the FOXD3 gene, 611539), 7 (VAMAS3; 608391), 8 (VAMAS4; 608392), 4 (VAMAS5; 609400), and 6p21.3 (VAMAS6; 193200). [from OMIM]

Clinical features

From HPO
Vitiligo
MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.

Recent clinical studies

Etiology

Bharti N, Banerjee R, Achalare A, Kasibhatla SM, Joshi R
BMC Genom Data 2024 Jul 26;25(1):72. doi: 10.1186/s12863-024-01254-6. PMID: 39060965Free PMC Article
Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA
N Engl J Med 2007 Mar 22;356(12):1216-25. doi: 10.1056/NEJMoa061592. PMID: 17377159

Prognosis

Boniface K, Taïeb A, Seneschal J
G Ital Dermatol Venereol 2016 Feb;151(1):44-54. Epub 2015 Oct 29 PMID: 26512930

Clinical prediction guides

Bharti N, Banerjee R, Achalare A, Kasibhatla SM, Joshi R
BMC Genom Data 2024 Jul 26;25(1):72. doi: 10.1186/s12863-024-01254-6. PMID: 39060965Free PMC Article
Boniface K, Taïeb A, Seneschal J
G Ital Dermatol Venereol 2016 Feb;151(1):44-54. Epub 2015 Oct 29 PMID: 26512930

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