VTLG
MCID: VTL009
MIFTS: 39

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 (VTLG)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Smell/Taste 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 58 13
Generalized Vitiligo 76 74
Vitiligo 76 74
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 74
Vamas6 58
Vtlg 76

Characteristics:

OMIM:

58
Inheritance:
? epistatically interacting multiple autosomal recessive


HPO:

33
vitiligo-associated multiple autoimmune disease susceptibility 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 193200
MeSH 45 D014820

Summaries for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

UniProtKB/Swiss-Prot : 76 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 pruritus and exanthema. An important gene associated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 is PTPN22 (Protein Tyrosine Phosphatase Non-Receptor Type 22). The drugs Bimatoprost and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and thyroid, and related phenotypes are vitiligo and nevus

Description from OMIM: 193200

Related Diseases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Diseases in the Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 family:

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 386)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 13.0
2 deafness, congenital, with vitiligo and achalasia 12.4
3 alopecia universalis onychodystrophy vitiligo 12.3
4 vitiligo, progressive, with mental retardation and urethral duplication 12.1
5 autoimmune disease 1 12.0
6 spastic paraplegia 23, autosomal recessive 11.9
7 alopecia areata 11.7
8 schrander-stumpel theunissen hulsmans syndrome 11.5
9 autoimmune polyglandular syndrome type 3 11.5
10 halo nevi 11.3
11 piebald trait 11.3
12 vogt-koyanagi-harada disease 11.3
13 hemifacial atrophy, progressive 11.3
14 autoimmune atrophic gastritis 11.3
15 alezzandrini syndrome 11.2
16 autoimmune disease 2 11.2
17 autoimmune disease 3 11.2
18 autoimmune disease 4 11.2
19 stiff-person syndrome 11.1
20 hereditary spastic paraplegia 23 11.0
21 ermine phenotype 11.0
22 hypoadrenocorticism, familial 11.0
23 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.0
24 nijmegen breakage syndrome 11.0
25 lelis syndrome 11.0
26 t-cell receptor-alpha/beta deficiency 11.0
27 hypopigmentation of eyelid 11.0
28 combined immunodeficiency with skin granulomas 11.0
29 gemignani syndrome 11.0
30 melanoma 10.6
31 alopecia 10.5
32 psoriasis 10.5
33 autoimmune disease 10.4
34 thyroiditis 10.4
35 dermatitis 10.4
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
37 neutrophil migration 10.3
38 hepatitis 10.3
39 lichen planus 10.3
40 lupus erythematosus 10.2
41 lymphomatous thyroiditis 10.2
42 hepatitis c 10.2
43 mycosis fungoides 10.2
44 hypothyroidism 10.2
45 dermatitis, atopic 10.1
46 skin carcinoma 10.1
47 localized scleroderma 10.1
48 hashimoto thyroiditis 10.1
49 squamous cell carcinoma 10.1
50 rheumatoid arthritis 10.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 vitiligo 33 HP:0001045
2 nevus 33 HP:0003764

Symptoms via clinical synopsis from OMIM:

58
Skin:
vitiligo
halo nevi

Misc:
onset after birth
no predilection for ventral skin

Clinical features from OMIM:

193200

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


pruritus, exanthema

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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
2 Ophthalmic Solutions Phase 4
3 Pharmaceutical Solutions Phase 4
4 Dermatologic Agents Phase 4,Phase 1
5 Antihypertensive Agents Phase 4
6
Simvastatin Approved Phase 2 79902-63-9 54454
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
8 Lipid Regulating Agents Phase 2
9 Anticholesteremic Agents Phase 2
10 Antimetabolites Phase 2
11 Hypolipidemic Agents Phase 2
12
Tacrolimus Approved, Investigational Phase 1 104987-11-3 6473866 445643 439492
13
Calcitriol Approved, Nutraceutical Phase 1 32222-06-3 5280453 134070
14
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
15 Vasoconstrictor Agents Phase 1
16 Calcium, Dietary Phase 1
17 Immunologic Factors Phase 1
18 Trace Elements Phase 1
19 Bone Density Conservation Agents Phase 1
20 Immunosuppressive Agents Phase 1
21 Calcipotriene Phase 1
22 Calcineurin Inhibitors Phase 1
23 Hormones Phase 1
24 Vitamins Phase 1
25 Micronutrients Phase 1
26 Nutrients 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 74 / NDF-RT 52 :


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:

42
Skin, T Cells, Thyroid, Myeloid, Bone Marrow, Ovary, Pituitary

Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

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

(show top 50) (show all 94)
# Title Authors Year
1
The effect of NB-UVB on noncultured melanocyte and keratinocyte transplantation in treatment of generalized vitiligo using two different donor-to-recipient ratios. ( 30280485 )
2019
2
The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition ( 30761886 )
2019
3
Narrow-band UVB effects on cutaneous vitamin D receptor expression and serum 25-hydroxyvitamin D in generalized vitiligo. ( 29080365 )
2018
4
Plasma & urinary catecholamines & urinary vanillylmandelic acid levels in patients with generalized vitiligo. ( 29998874 )
2018
5
Paradoxically dark spontaneous repigmentation: a rare complication of generalized vitiligo. ( 27785821 )
2017
6
Oxidation products are increased in patients affected by non-segmental generalized vitiligo. ( 28551758 )
2017
7
Differential Expression of Nitric Oxide Synthase Isoforms nNOS and iNOS in Patients with Non-Segmental Generalized Vitiligo. ( 29186858 )
2017
8
IL-33 circulating serum levels are increased in patients with non-segmental generalized vitiligo. ( 27388717 )
2016
9
Combination therapy of orally administered glycyrrhizin and UVB improved active-stage generalized vitiligo. ( 27464024 )
2016
10
The changes of gene expression profiling between segmental vitiligo, generalized vitiligo and healthy individual. ( 27470284 )
2016
11
Alteration in regulatory T cells and programmed cell death 1-expressing regulatory T cells in active generalized vitiligo and their clinical correlation. ( 25376752 )
2015
12
Increased serum levels of interleukin-23 circulating in patients with non-segmental generalized vitiligo. ( 25427848 )
2015
13
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
14
Generalized vitiligo in a dog with primary hypoadrenocorticism. ( 26104920 )
2015
15
Clinical profile of generalized vitiligo patients with associated autoimmune/autoinflammatory diseases. ( 23590677 )
2014
16
Distribution patterns in generalized vitiligo. ( 23651011 )
2014
17
Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population. ( 24648691 )
2014
18
Generalized vitiligo post radiotherapy in a breast cancer patient. ( 25022394 )
2014
19
Can systemically generated reactive oxygen species help to monitor disease activity in generalized vitiligo? A pilot study. ( 25484381 )
2014
20
Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. ( 23303446 )
2013
21
Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). ( 23321921 )
2013
22
The association between a single nucleotide polymorphism rs11966200 in MHC region and clinical features of generalized vitiligo in Chinese Han population. ( 23516070 )
2013
23
Decreased regulatory T-cells and CD4(+) /CD8(+) ratio correlate with disease onset and progression in patients with generalized vitiligo. ( 23574980 )
2013
24
Evaluation of total oxidant and antioxidant status in localized and generalized vitiligo. ( 23601201 )
2013
25
T helper and regulatory T cell cytokine profile in active, stable and narrow band ultraviolet B treated generalized vitiligo. ( 23680073 )
2013
26
Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population. ( 23773036 )
2013
27
Involvement of interferon-gamma genetic variants and intercellular adhesion molecule-1 in onset and progression of generalized vitiligo. ( 23777204 )
2013
28
Methotrexate for the treatment of generalized vitiligo. ( 24227963 )
2013
29
Segmental and generalized vitiligo: both forms demonstrate inflammatory histopathological features and clinical mosaicism. ( 24249893 )
2013
30
A single nucleotide polymorphism rs9468925 of MHC region is associated with clinical features of generalized vitiligo in Chinese Han population. ( 21951294 )
2012
31
Study of clinical, biochemical and immunological factors determining stability of disease in patients with generalized vitiligo undergoing melanocyte transplantation. ( 22329760 )
2012
32
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
33
Treatment of generalized vitiligo with anti-TNF-α Agents. ( 22453596 )
2012
34
Evaluation of the effect of disease duration in generalized vitiligo on its clinical response to narrowband ultraviolet B phototherapy. ( 22548391 )
2012
35
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. ( 22561518 )
2012
36
Global activation of CD8+ cytotoxic T lymphocytes correlates with an impairment in regulatory T cells in patients with generalized vitiligo. ( 22649532 )
2012
37
The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo. ( 22762534 )
2012
38
Wart with depigmented halo and generalized vitiligo. ( 24031144 )
2012
39
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. ( 21085187 )
2011
40
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. ( 21326295 )
2011
41
Segmental vitiligo associated with generalized vitiligo (mixed vitiligo): a retrospective case series of 19 patients. ( 21616559 )
2011
42
Asymptomatic papules and plaque in a patient with generalized vitiligo. ( 21772607 )
2011
43
Recent progress in the genetics of generalized vitiligo. ( 21777851 )
2011
44
Generalized vitiligo and associated autoimmune diseases in Japanese patients and their families. ( 21778811 )
2011
45
Prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo-related ischemic stroke in a young adult. ( 20504218 )
2010
46
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. ( 19890347 )
2010
47
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. ( 20410501 )
2010
48
Narrowband ultraviolet B as monotherapy and in combination with topical calcipotriol in the treatment of generalized vitiligo. ( 20456387 )
2010
49
Common variants in FOXP1 are associated with generalized vitiligo. ( 20526340 )
2010
50
Genetic association of NALP1 with generalized vitiligo in Jordanian Arabs. ( 20574744 )
2010

Variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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