MCID: VTL009
MIFTS: 35

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Categories: Genetic diseases

Aliases & Classifications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

MalaCards integrated aliases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

Name: Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 57
Generalized Vitiligo 75 73
Vitiligo 75 73
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 73
Vamas6 57
Vtlg 75

Characteristics:

OMIM:

57
Inheritance:
? epistatically interacting multiple autosomal recessive


Classifications:



External Ids:

OMIM 57 193200
MeSH 44 D014820

Summaries for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

UniProtKB/Swiss-Prot : 75 Vitiligo: A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases.

MalaCards based summary : Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6, also known as generalized vitiligo, is related to vitiligo-associated multiple autoimmune disease susceptibility 1 and deafness, congenital, with vitiligo and achalasia, and has symptoms including exanthema and pruritus. An important gene associated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 is PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22). The drugs Simvastatin and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and bone, and related phenotypes are vitiligo and nevus

Description from OMIM: 193200

Related Diseases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Diseases related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 251)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 12.7
2 deafness, congenital, with vitiligo and achalasia 12.2
3 alopecia universalis onychodystrophy vitiligo 12.1
4 vitiligo, progressive, with mental retardation and urethral duplication 11.9
5 autoimmune disease 1 11.8
6 spastic paraplegia 23 11.7
7 alopecia areata 11.5
8 vogt-koyanagi-harada disease 11.2
9 autoimmune atrophic gastritis 11.1
10 alezzandrini syndrome 11.0
11 autoimmune disease 2 11.0
12 autoimmune disease 3 11.0
13 autoimmune disease 4 11.0
14 schrander-stumpel theunissen hulsmans syndrome 11.0
15 stiff-person syndrome 11.0
16 autoimmune polyglandular syndrome type 3 11.0
17 hemifacial atrophy, progressive 10.8
18 piebald trait 10.8
19 ermine phenotype 10.8
20 hypoadrenocorticism, familial 10.8
21 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.8
22 nijmegen breakage syndrome 10.8
23 lelis syndrome 10.8
24 t-cell receptor-alpha/beta deficiency 10.8
25 alopecia 10.3
26 melanoma 10.3
27 thyroiditis 10.3
28 psoriasis 10.2
29 hypothyroidism 10.1
30 dermatitis 10.1
31 autoimmune disease 10.0
32 halo nevi 10.0
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
34 aging 10.0
35 lupus erythematosus 10.0
36 pernicious anemia 9.9
37 alopecia universalis congenita 9.9
38 hepatitis 9.9
39 lichen planus 9.9
40 discoid lupus erythematosus 9.9
41 mycosis fungoides 9.9
42 dermatitis, atopic 9.9
43 skin disease 9.9
44 hepatitis c 9.9
45 dermatitis herpetiformis, familial 9.8
46 basal cell carcinoma 1 9.8
47 microphthalmia 9.8
48 squamous cell carcinoma 9.8
49 basal cell carcinoma 9.8
50 dermatitis herpetiformis 9.8

Graphical network of the top 20 diseases related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:



Diseases related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Symptoms & Phenotypes for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Symptoms via clinical synopsis from OMIM:

57
Skin:
vitiligo
halo nevi

Misc:
onset after birth
no predilection for ventral skin


Clinical features from OMIM:

193200

Human phenotypes related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

32
# Description HPO Frequency HPO Source Accession
1 vitiligo 32 HP:0001045
2 nevus 32 HP:0003764

UMLS symptoms related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:


exanthema, pruritus

Drugs & Therapeutics for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Drugs for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2 Anticholesteremic Agents Phase 2
3 Antimetabolites Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
5 Hypolipidemic Agents Phase 2
6 Lipid Regulating Agents Phase 2
7
Tacrolimus Approved, Investigational Phase 1 104987-11-3 445643 439492
8
Calcitriol Approved, Nutraceutical Phase 1 32222-06-3 134070 5280453
9 Bone Density Conservation Agents Phase 1
10 Calcineurin Inhibitors Phase 1
11 Calcipotriene Phase 1
12 Calcium, Dietary Phase 1
13 Dermatologic Agents Phase 1
14 Immunosuppressive Agents Phase 1
15 Micronutrients Phase 1
16 Trace Elements Phase 1
17 Vasoconstrictor Agents Phase 1
18 Vitamins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bimatoprost 0.03% Solution With NB-UVB Versus Their Use With Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Not yet recruiting NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
2 Clinical Trial of Simvastatin to Treat Generalized Vitiligo Completed NCT01517893 Phase 2 Simvastatin;Placebo
3 The Effect of Fractional Co2 Laser Either With Tacrolimus, Calcipotriol or NB-UVB in Stable Generalized Vitiligo Not yet recruiting NCT03234673 Phase 1 Tacrolimus ointment;calcipotriol ointment;NB-UVB
4 HI-Light Pilot Trial for Vitiligo: Hand Held NB-UVB for Early or Focal Vitiligo at Home Completed NCT01478945 Not Applicable
5 Long-term Follow-up in Patients Affected With Acrofacial Vitiligo Not yet recruiting NCT01459055

Search NIH Clinical Center for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Anatomical Context for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

MalaCards organs/tissues related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

41
Skin, T Cells, Bone, Thyroid

Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Articles related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

(show top 50) (show all 52)
# Title Authors Year
1
The changes of gene expression profiling between segmental vitiligo, generalized vitiligo and healthy individual. ( 27470284 )
2016
2
IL-33 circulating serum levels are increased in patients with non-segmental generalized vitiligo. ( 27388717 )
2016
3
Participation of T cell immunoglobulin and mucin domain-3 (TIM-3) and its ligand (galectin-9) in the pathogenesis of active generalized vitiligo. ( 25784621 )
2015
4
Alteration in regulatory T cells and programmed death (PD)1 expressing regulatory T cells in active generalized vitiligo and their clinical correlation. ( 25376752 )
2014
5
Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population. ( 23773036 )
2013
6
Clinical profile of generalized vitiligo patients with associated autoimmune/autoinflammatory diseases. ( 23590677 )
2013
7
Segmental and generalized vitiligo: both forms demonstrate inflammatory histopathological features and clinical mosaicism. ( 24249893 )
2013
8
Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). ( 23321921 )
2013
9
Evaluation of total oxidant and antioxidant status in localized and generalized vitiligo. ( 23601201 )
2013
10
Decreased regulatory T-cells and CD4(+) /CD8(+) ratio correlate with disease onset and progression in patients with generalized vitiligo. ( 23574980 )
2013
11
Methotrexate for the treatment of generalized vitiligo. ( 24227963 )
2013
12
Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. ( 23303446 )
2013
13
T helper and regulatory T cell cytokine profile in active, stable and narrow band ultraviolet B treated generalized vitiligo. ( 23680073 )
2013
14
Distribution patterns in generalized vitiligo. ( 23651011 )
2013
15
The association between a single nucleotide polymorphism rs11966200 in MHC region and clinical features of generalized vitiligo in Chinese Han population. ( 23516070 )
2013
16
Involvement of interferon-gamma genetic variants and intercellular adhesion molecule-1 in onset and progression of generalized vitiligo. ( 23777204 )
2013
17
A single nucleotide polymorphism rs9468925 of MHC region is associated with clinical features of generalized vitiligo in Chinese Han population. ( 21951294 )
2012
18
Wart with depigmented halo and generalized vitiligo. ( 24031144 )
2012
19
Study of clinical, biochemical and immunological factors determining stability of disease in patients with generalized vitiligo undergoing melanocyte transplantation. ( 22329760 )
2012
20
Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. ( 22402439 )
2012
21
The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo. ( 22762534 )
2012
22
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. ( 22561518 )
2012
23
Evaluation of the effect of disease duration in generalized vitiligo on its clinical response to narrowband ultraviolet B phototherapy. ( 22548391 )
2012
24
Treatment of generalized vitiligo with anti-TNF-I+ Agents. ( 22453596 )
2012
25
Global activation of CD8+ cytotoxic T lymphocytes correlates with an impairment in regulatory T cells in patients with generalized vitiligo. ( 22649532 )
2012
26
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. ( 21326295 )
2011
27
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. ( 21085187 )
2011
28
Generalized vitiligo and associated autoimmune diseases in Japanese patients and their families. ( 21778811 )
2011
29
Genetic association of NALP1 with generalized vitiligo in Jordanian Arabs. ( 20574744 )
2010
30
Common variants in FOXP1 are associated with generalized vitiligo. ( 20526340 )
2010
31
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. ( 19890347 )
2010
32
Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease. ( 20578892 )
2010
33
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. ( 20410501 )
2010
34
Prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo-related ischemic stroke in a young adult. ( 20504218 )
2010
35
Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. ( 19416237 )
2009
36
Association of thymic stromal lymphopoietin gene -847C>T polymorphism in generalized vitiligo. ( 19555430 )
2009
37
CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. ( 19175525 )
2009
38
The ACE gene I/ D polymorphism is not associated with generalized vitiligo susceptibility in Gujarat population. ( 18444962 )
2008
39
Autoimmune etiology of generalized vitiligo. ( 18460889 )
2008
40
The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. ( 18426414 )
2008
41
PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. ( 18200060 )
2008
42
[ssociation of HLA class I and II alleles with generalized vitiligo in Chinese Hans in north China]. ( 17407088 )
2007
43
The genetics of generalized vitiligo and associated autoimmune diseases. ( 17630960 )
2007
44
Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. ( 17637824 )
2007
45
HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. ( 16420246 )
2006
46
A novel linkage to generalized vitiligo on 4q13-q21 identified in a genomewide linkage analysis of Chinese families. ( 15809929 )
2005
47
The role of oxidants and antioxidants in generalized vitiligo at tissue level. ( 15482295 )
2004
48
Oxidant-antioxidant enzymes and lipid peroxidation in generalized vitiligo. ( 15245542 )
2004
49
The role of oxidants and antioxidants in generalized vitiligo. ( 12692376 )
2003
50
A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. ( 12707860 )
2003

Variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

UniProtKB/Swiss-Prot genetic disease variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

75
# Symbol AA change Variation ID SNP ID
1 PTPN22 p.Arg620Trp VAR_022605 rs2476601

ClinVar genetic disease variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1B NM_015074.3(KIF1B): c.4387C> T (p.Arg1463Cys) single nucleotide variant Uncertain significance rs757850683 GRCh37 Chromosome 1, 10425479: 10425479
2 KIF1B NM_015074.3(KIF1B): c.4387C> T (p.Arg1463Cys) single nucleotide variant Uncertain significance rs757850683 GRCh38 Chromosome 1, 10365421: 10365421

Expression for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Search GEO for disease gene expression data for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6.

Pathways for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

GO Terms for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Sources for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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