Vitiligo-associated multiple autoimmune disease susceptibility 1

Preferred Label : Vitiligo-associated multiple autoimmune disease susceptibility 1;

Symbol : VAMAS1;

CISMeF acronym : SLEV1; VAMAS1; VTLG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vitiligo; Systemic lupus erythematosus, vitiligo-related; VTLG; SLEV1;

Description : 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).;

Prefixed ID : #606579;

Details

Origin ID

606579;

UMLS CUI

C1847835;

Automatic exact mappings (from CISMeF team)
- NLR family pyrin domain containing 1 [ORDO Gene]
- NLR family pyrin domain containing 1 [HGNC gene]
- NLRP1 wt Allele [NCIt concept]
- VITILIGO [WHO-ART Preferred Term]
- Vitiligo [PASCAL descriptor]
- Vitiligo [ICD-11 Subcategory]
- Vitiligo [ICD-10 category]
- Vitiligo [ICD-9 code]
- Vitiligo [ICD-10 category (who)]
- Vitiligo [MedDRA Preferred Term]
- Vitiligo [NCIt concept]
- Vitiligo [ORDO Disease]
- Vitiligo (disorder) [SNOMED CT concept]
- celsus' vitiligo [MeSH concept]
- symbol withdrawn SLEV1 [HGNC gene]
- vitiligo [DO Concept]
- vitiligo [MedlinePlus Topic]
- vitiligo [MeSH Descriptor]
- vitiligo [MeSH concept]
- vitiligo [SNOMED Notion]
Genes related to phenotype
- Nlr family, pyrin domain-containing 1 [OMIM gene]
HPO term(s)
- Polygenic inheritance [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Vitiligo [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Vitiligo [HPO term]
- vitiligo [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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