VTLG
MCID: VTL009
MIFTS: 52

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 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 alopecia areata, 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), and among its related pathways/superpathways are Cushing syndrome and Phenylalanine metabolism. Affiliated tissues include skin, t cells and bone, and related phenotypes are vitiligo and nevus

Genetics Home Reference : 25 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.

Wikipedia : 76 Vitiligo is a long-term skin condition characterized by patches of the skin losing their pigment. The... more...

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 336)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 33.7 AIRE MITF PMEL PTPN22 TYR TYRP1
2 alopecia areata 32.3 AIRE PTPN22
3 halo nevi 32.2 PMEL TYR
4 vogt-koyanagi-harada disease 31.8 PMEL PTPN22 TYR TYRP1
5 hypoadrenocorticism, familial 31.5 AIRE PTPN22
6 piebald trait 31.4 MITF TYR
7 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.4 AIRE PTPN22
8 albinism 29.7 MITF TYR TYRP1
9 microphthalmia 29.6 MITF PMEL TYR TYRP1
10 amelanotic melanoma 29.5 CAT TYR TYRP1
11 chronic mucocutaneous candidiasis 29.4 AIRE PTPN22
12 skin melanoma 29.3 MITF PMEL TYR
13 melanoma, uveal 29.3 MITF PMEL TYR
14 oculocutaneous albinism 29.3 TYR TYRP1
15 waardenburg's syndrome 29.3 MITF TYR TYRP1
16 deafness, congenital, with vitiligo and achalasia 12.4
17 alopecia universalis onychodystrophy vitiligo 12.2
18 vitiligo, progressive, with mental retardation and urethral duplication 12.0
19 autoimmune disease 1 12.0
20 spastic paraplegia 23 11.9
21 autoimmune polyglandular syndrome type 3 11.4
22 autoimmune atrophic gastritis 11.3
23 alezzandrini syndrome 11.2
24 autoimmune disease 2 11.2
25 autoimmune disease 3 11.2
26 autoimmune disease 4 11.2
27 schrander-stumpel theunissen hulsmans syndrome 11.2
28 stiff-person syndrome 11.1
29 hemifacial atrophy, progressive 11.0
30 ermine phenotype 11.0
31 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.0
32 nijmegen breakage syndrome 11.0
33 lelis syndrome 11.0
34 t-cell receptor-alpha/beta deficiency 11.0
35 combined immunodeficiency with skin granulomas 11.0
36 gemignani syndrome 11.0
37 melanoma 10.5
38 alopecia 10.5
39 psoriasis 10.4
40 thyroiditis 10.3
41 autoimmune disease 10.3
42 dermatitis 10.3
43 lupus erythematosus 10.2
44 hepatitis 10.2
45 hypothyroidism 10.1
46 melanoacanthoma 10.1 PMEL TYR
47 diffuse meningeal melanocytosis 10.1 PMEL TYR
48 albinism, oculocutaneous, type ii 10.1 TYR TYRP1
49 lichen planus 10.1
50 albinism, oculocutaneous, type iii 10.1 TYR TYRP1

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:


pruritus, exanthema

MGI Mouse Phenotypes related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.92 AIRE CAT MITF PCBD1 PMEL PTPN22
2 integument MP:0010771 9.65 MITF PCBD1 PMEL TYR TYRP1
3 neoplasm MP:0002006 9.46 AIRE CAT TYR TYRP1
4 pigmentation MP:0001186 9.35 MITF PCBD1 PMEL TYR TYRP1
5 vision/eye MP:0005391 9.1 AIRE MITF PCBD1 PMEL TYR TYRP1

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

Search Clinical Trials , 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, Lung, Liver, Myeloid

Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

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

(show top 50) (show all 88)
# Title Authors Year
1
Narrow-band UVB effects on cutaneous vitamin D receptor expression and serum 25-hydroxyvitamin D in generalized vitiligo. ( 29080365 )
2018
2
Plasma & urinary catecholamines & urinary vanillylmandelic acid levels in patients with generalized vitiligo. ( 29998874 )
2018
3
The effect of NB-UVB on noncultured melanocyte and keratinocyte transplantation in treatment of generalized vitiligo using two different donor-to-recipient ratios. ( 30280485 )
2018
4
Paradoxically dark spontaneous repigmentation: a rare complication of generalized vitiligo. ( 27785821 )
2017
5
Oxidation products are increased in patients affected by non-segmental generalized vitiligo. ( 28551758 )
2017
6
Differential Expression of Nitric Oxide Synthase Isoforms nNOS and iNOS in Patients with Non-Segmental Generalized Vitiligo. ( 29186858 )
2017
7
The changes of gene expression profiling between segmental vitiligo, generalized vitiligo and healthy individual. ( 27470284 )
2016
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
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
11
Increased serum levels of interleukin-23 circulating in patients with non-segmental generalized vitiligo. ( 25427848 )
2015
12
Generalized vitiligo in a dog with primary hypoadrenocorticism. ( 26104920 )
2015
13
Alteration in regulatory T cells and programmed death (PD)1 expressing regulatory T cells in active generalized vitiligo and their clinical correlation. ( 25376752 )
2014
14
Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population. ( 24648691 )
2014
15
Generalized vitiligo post radiotherapy in a breast cancer patient. ( 25022394 )
2014
16
Can systemically generated reactive oxygen species help to monitor disease activity in generalized vitiligo? A pilot study. ( 25484381 )
2014
17
Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population. ( 23773036 )
2013
18
Clinical profile of generalized vitiligo patients with associated autoimmune/autoinflammatory diseases. ( 23590677 )
2013
19
Segmental and generalized vitiligo: both forms demonstrate inflammatory histopathological features and clinical mosaicism. ( 24249893 )
2013
20
Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). ( 23321921 )
2013
21
Evaluation of total oxidant and antioxidant status in localized and generalized vitiligo. ( 23601201 )
2013
22
Decreased regulatory T-cells and CD4(+) /CD8(+) ratio correlate with disease onset and progression in patients with generalized vitiligo. ( 23574980 )
2013
23
Methotrexate for the treatment of generalized vitiligo. ( 24227963 )
2013
24
Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. ( 23303446 )
2013
25
T helper and regulatory T cell cytokine profile in active, stable and narrow band ultraviolet B treated generalized vitiligo. ( 23680073 )
2013
26
Distribution patterns in generalized vitiligo. ( 23651011 )
2013
27
The association between a single nucleotide polymorphism rs11966200 in MHC region and clinical features of generalized vitiligo in Chinese Han population. ( 23516070 )
2013
28
Involvement of interferon-gamma genetic variants and intercellular adhesion molecule-1 in onset and progression of generalized vitiligo. ( 23777204 )
2013
29
A single nucleotide polymorphism rs9468925 of MHC region is associated with clinical features of generalized vitiligo in Chinese Han population. ( 21951294 )
2012
30
Wart with depigmented halo and generalized vitiligo. ( 24031144 )
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
The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo. ( 22762534 )
2012
34
Evaluation of the effect of disease duration in generalized vitiligo on its clinical response to narrowband ultraviolet B phototherapy. ( 22548391 )
2012
35
Treatment of generalized vitiligo with anti-TNF-I+ Agents. ( 22453596 )
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
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. ( 21326295 )
2011
38
Generalized vitiligo and associated autoimmune diseases in Japanese patients and their families. ( 21778811 )
2011
39
Segmental vitiligo associated with generalized vitiligo (mixed vitiligo): a retrospective case series of 19 patients. ( 21616559 )
2011
40
Asymptomatic papules and plaque in a patient with generalized vitiligo. ( 21772607 )
2011
41
Recent progress in the genetics of generalized vitiligo. ( 21777851 )
2011
42
Genetic association of NALP1 with generalized vitiligo in Jordanian Arabs. ( 20574744 )
2010
43
Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease. ( 20578892 )
2010
44
Prothrombin G20210A mutation, hypogonadotropic hypogonadism, and generalized vitiligo-related ischemic stroke in a young adult. ( 20504218 )
2010
45
Narrowband ultraviolet B as monotherapy and in combination with topical calcipotriol in the treatment of generalized vitiligo. ( 20456387 )
2010
46
The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma. ( 20959028 )
2010
47
Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. ( 19416237 )
2009
48
Association of thymic stromal lymphopoietin gene -847C>T polymorphism in generalized vitiligo. ( 19555430 )
2009
49
CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. ( 19175525 )
2009
50
Partial pigmentary regression of a congenital nevocytic naevus without halo phenomenon followed by generalized vitiligo. ( 18771443 )
2009

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

Pathways related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 MITF TYR TYRP1
2
Show member pathways
11.04 TYR TYRP1
3 9.32 TYR TYRP1

GO Terms for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6

Cellular components related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.96 TYR TYRP1
2 melanosome GO:0042470 8.8 PMEL TYR TYRP1

Biological processes related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.62 CAT PCBD1 TYR TYRP1
2 protein homotetramerization GO:0051289 9.43 CAT PCBD1
3 humoral immune response GO:0006959 9.4 AIRE MITF
4 response to UV GO:0009411 9.37 CAT TYR
5 melanocyte differentiation GO:0030318 9.26 MITF TYRP1
6 melanosome organization GO:0032438 9.16 PMEL TYRP1
7 pigmentation GO:0043473 9.13 MITF TYR TYRP1
8 melanin biosynthetic process GO:0042438 8.8 PMEL TYR TYRP1

Molecular functions related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.26 AIRE CAT PCBD1 PMEL
2 monooxygenase activity GO:0004497 8.62 TYR TYRP1

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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