MCID: VTL004
MIFTS: 29

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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NIH Rare Diseases:41 Vitiligo is a pigmentation disorder in which melanocytes (the cells that make pigment) in the skin are destroyed. as a result, white patches appear on the skin in different parts of the body, and sometimes also on both the mucous membranes and the retina. the average age of onset is in the mid-20s. it is generally considered to be an autoimmune disorder, and about 20-25 percent of people with vitiligo also have at least one other autoimmune disorder. in the absence of other conditions, vitiligo does not affect general health; however, concerns about appearance and ethnic identity are significant issues for many affected individuals. the exact cause of vitiligo is not known, but there are several different theories. there is strong evidence that people with vitiligo inherit a group of genes that make them susceptible to depigmentation. the main goal of treating vitiligo is to improve appearance; current treatment options include medication, surgery, and adjunctive therapies (used along with surgical or medical treatments). last updated: 11/20/2012

MalaCards based summary: Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1, also known as vitiligo, is related to melanoma and thyroiditis, and has symptoms including vitiligo, nevus and polygenic inheritance. An important gene associated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 is NLRP1 (NLR family, pyrin domain containing 1). The drugs methoxsalen and trioxsalen have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina.

Disease Ontology:9 A hypersensitivity reaction type ii disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.

Genetics Home Reference:21 Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting the hair on their scalp or body.

OMIM:45 Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation... (606579) more...

MedlinePlus:32 Vitiligo causes white patches on your skin. it can also affect your eyes, mouth, and nose. it occurs when the cells that give your skin its color are destroyed. no one knows what destroys them. it is more common in people with autoimmune diseases, and it might run in families. it usually starts before age 40. the white patches are more common where your skin is exposed to the sun. in some cases, the patches spread. vitiligo can cause your hair to gray early. if you have dark skin, you may lose color inside your mouth. using sunscreen will help protect your skin, and cosmetics can cover up the patches. treatments for vitiligo include medicines, light therapy, and surgery. not every treatment is right for everyone. many have side effects. some take a long time. some do not always work. nih: national institute of arthritis and musculoskeletal and skin diseases

Wikipedia:63 Vitiligo /?v?t??la??o?/ is a chronic skin disease characterized by portions of the skin losing their... more...

Description from OMIM:45 193200

Aliases & Classifications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1, Aliases & Descriptions:

Name: Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 45 10 30
 
Vitiligo 30 9 41 21 11 43 45 32 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


External Ids:

OMIM45 606579
Disease Ontology9 DOID:12306
NCIt38 C26915
SNOMED-CT55 56727007, 156437000
ICD9CM27 709.01
MeSH33 D014820
ICD1025 L80

Related Diseases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Graphical network of the top 20 diseases related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:



Diseases related to vitiligo-associated multiple autoimmune disease susceptibility 1

Symptoms for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Symptoms by clinical synopsis from OMIM:

193200

Clinical features from OMIM:

606579,193200

HPO human phenotypes related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

id Description Frequency HPO Source Accession
1 vitiligo HP:0001045
2 nevus HP:0003764
3 polygenic inheritance HP:0010982

Drugs & Therapeutics for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Drug clinical trials:

Search ClinicalTrials for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Search NIH Clinical Center for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:
JACE
Embryonic/Adult Cultured Cells Related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:
Cultured epidermis (JACE, PMIDs: 23265935, 17465819, 11987545

Genetic Tests for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Anatomical Context for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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MalaCards organs/tissues related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

31
Skin, Eye, Retina

Animal Models for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 or affiliated genes

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Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Clinvar genetic disease variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP1NM_001033053.2(NLRP1): c.464T> A (p.Leu155His)single nucleotide variantrisk factorrs12150220GRCh37Chr 17, 5485367: 5485367

Expression for genes affiliated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Search GEO for disease gene expression data for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1.

Pathways for genes affiliated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Compounds for genes affiliated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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GO Terms for genes affiliated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Products for genes affiliated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet