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VAMAS1
MCID: VTL004
MIFTS: 63

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 (VAMAS1)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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MalaCards integrated aliases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

Name: Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 57 29 13 6 38 40 73
Vitiligo 57 38 12 76 53 25 37 29 55 6 43 44 15 73
Vamas1 57 75
Slev1 57 75
Vtlg 57 25
Systemic Lupus Erythematosus, Vitiligo-Related; Slev1 57
Vitiligo-Associated Multiple Autoimmune Disease 1 75
Systemic Lupus Erythematosus, Vitiligo-Related 57
Systemic Lupus Erythematosus Vitiligo-Related 75
Vitiligo; Vtlg 57

Characteristics:

HPO:

32
vitiligo-associated multiple autoimmune disease susceptibility 1:
Inheritance polygenic inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Immune diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 606579
Disease Ontology 12 DOID:12306
ICD10 33 L80
ICD9CM 35 709.01
NCIt 50 C26915
SNOMED-CT 68 56727007
MedGen 42 C1847835
KEGG 37 H01372
Sources

Summaries for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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NIH Rare Diseases : 53 Vitiligo is a relatively common pigmentation disorder in which the skin's pigment-making cells (melanocytes) are lost or destroyed. As a result, well-defined white patches appear on the skin. Patches may occur on one section or all over the body and may join together (coalesce). Some people also have loss of pigment in patches of hair on the head or body. Vitiligo tends to continue over time, causing larger areas of skin to lose pigment. It may begin at any age but the average age of onset is in the mid-twenties. Vitiligo does not affect physical health, but concerns about appearance and ethnic identity can lead to serious psychological, social, and emotional difficulties, significantly impacting quality of life. The specific cause of vitiligo is not known. Many people with vitiligo also have a personal or family history of autoimmune disease, suggesting that vitiligo has an autoimmune cause. It sometimes "runs in families,"  suggesting that genetics may play a role. People with vitiligo often report that its onset was related to a specific triggering event, such as injury, illness, sunburn, emotional stress, or pregnancy. However, there are currently no data supporting that these factors cause vitiligo. There is no cure for vitiligo, but available treatments may stop its progression and induce varying degrees of re-pigmentation. Treatment options vary depending on severity and preference and may include topical, systemic, and/or light-based therapies. A combination of therapies is usually more effective than a single therapy. Despite the availability of treatment, the course of the condition and response to treatment are unpredictable.

MalaCards based summary : Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1, also known as vitiligo, is related to alopecia areata and halo nevi, and has symptoms including pruritus and exanthema. An important gene associated with Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 is NLRP1 (NLR Family Pyrin Domain Containing 1), and among its related pathways/superpathways are NOD-like receptor signaling pathway and NF-kappaB Signaling. The drugs mometasone furoate and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and eye, and related phenotypes are vitiligo and growth/size/body region

OMIM : 57 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). (606579)

MedlinePlus : 43 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

UniProtKB/Swiss-Prot : 75 Vitiligo-associated multiple autoimmune disease 1: A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus.

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

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Related Diseases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 341)
# Related Disease Score Top Affiliating Genes
1 alopecia areata 32.6 AIRE CTLA4 PTPN22
2 halo nevi 32.4 PMEL TYR
3 vitiligo-associated multiple autoimmune disease susceptibility 6 32.2 AIRE MITF PMEL PTPN22 TYR TYRP1
4 vogt-koyanagi-harada disease 32.0 NLRP1 PMEL PTPN22 TYR TYRP1
5 piebald trait 31.6 KITLG MITF TYR
6 hypoadrenocorticism, familial 31.5 AIRE CTLA4 PTPN22
7 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.4 AIRE CTLA4 PTPN22
8 autoimmune disease 30.1 AIRE CTLA4 NLRP1 PDCD1 PTPN22
9 lupus erythematosus 30.1 CTLA4 NLRP1 PDCD1 PTPN22
10 amelanotic melanoma 30.1 TYR TYRP1
11 hashimoto thyroiditis 30.0 AIRE CTLA4 PTPN22
12 albinism 29.8 MC1R MITF TYR TYRP1
13 lentigo maligna melanoma 29.7 MC1R MITF
14 microphthalmia 29.7 MC1R MFRP MITF PMEL TYR TYRP1
15 skin melanoma 29.7 MITF PMEL TYR
16 autoimmune hepatitis 29.6 AIRE CTLA4 PDCD1
17 oculocutaneous albinism 29.6 MC1R TYR TYRP1
18 melanoma, uveal 29.5 MC1R MITF PMEL TYR
19 waardenburg's syndrome 29.4 KITLG MITF TYR TYRP1
20 melanoma, cutaneous malignant 1 29.4 IER3IP1 MC1R MITF TYRP1
21 deafness, congenital, with vitiligo and achalasia 12.4
22 alopecia universalis onychodystrophy vitiligo 12.2
23 vitiligo, progressive, with mental retardation and urethral duplication 12.0
24 autoimmune disease 1 12.0
25 spastic paraplegia 23 11.9
26 autoimmune polyglandular syndrome type 3 11.4
27 autoimmune atrophic gastritis 11.3
28 alezzandrini syndrome 11.2
29 autoimmune disease 2 11.2
30 autoimmune disease 3 11.2
31 autoimmune disease 4 11.2
32 schrander-stumpel theunissen hulsmans syndrome 11.2
33 stiff-person syndrome 11.1
34 hemifacial atrophy, progressive 11.0
35 ermine phenotype 11.0
36 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.0
37 nijmegen breakage syndrome 11.0
38 lelis syndrome 11.0
39 t-cell receptor-alpha/beta deficiency 11.0
40 combined immunodeficiency with skin granulomas 11.0
41 gemignani syndrome 11.0
42 melanoma 10.5
43 alopecia 10.5
44 psoriasis 10.4
45 thyroiditis 10.3
46 albinism, ocular, with late-onset sensorineural deafness 10.3 MITF TYR
47 dermatitis 10.3
48 gallbladder melanoma 10.3 MITF PMEL
49 albinism, oculocutaneous, type iii 10.2 TYR TYRP1
50 albinism, ocular, with sensorineural deafness 10.2 MITF TYR

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
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Symptoms & Phenotypes for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Clinical features from OMIM:

606579

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

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

UMLS symptoms related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:


pruritus, exanthema

MGI Mouse Phenotypes related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 AIRE FBXO11 KITLG MC1R MCHR1 MITF
2 homeostasis/metabolism MP:0005376 10.22 AIRE CTLA4 FBXO11 KITLG MCHR1 MITF
3 hematopoietic system MP:0005397 10.13 AIRE CTLA4 KITLG MC1R MITF NLRP1
4 immune system MP:0005387 10.07 AIRE CTLA4 FBXO11 KITLG MC1R MITF
5 craniofacial MP:0005382 10.05 FBXO11 KITLG MC1R MITF SMOC2 TYR
6 digestive/alimentary MP:0005381 9.97 AIRE CTLA4 FBXO11 KITLG PTPN22 SMOC2
7 hearing/vestibular/ear MP:0005377 9.93 FBXO11 KITLG MC1R MITF TYR TYRP1
8 integument MP:0010771 9.92 CTLA4 FBXO11 KITLG MC1R MITF PMEL
9 pigmentation MP:0001186 9.76 CTLA4 KITLG MC1R MFRP MITF PMEL
10 neoplasm MP:0002006 9.73 AIRE KITLG MC1R PDCD1 TYR TYRP1
11 skeleton MP:0005390 9.61 CTLA4 FBXO11 KITLG MCHR1 MITF PDCD1
12 vision/eye MP:0005391 9.28 AIRE FBXO11 KITLG MFRP MITF PDCD1
Sources

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

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Drugs for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
mometasone furoate Approved, Vet_approved Phase 4 83919-23-7
2
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 445643 439492
3
Pimecrolimus Approved, Investigational Phase 4,Phase 2 137071-32-0 6447131 17753757
4
Fluticasone Approved, Experimental Phase 4,Not Applicable,Early Phase 1 90566-53-3 62924
5
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
6
Acetylcholine Approved Phase 4 51-84-3 187
7
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
8
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
9
Insulin glulisine Approved Phase 4 207748-29-6
10
Zinc Approved, Investigational Phase 4 7440-66-6
11
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
12 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
16 Anti-Allergic Agents Phase 4,Not Applicable,Early Phase 1
17 Analgesics Phase 4,Phase 2,Not Applicable
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
19 Dermatologic Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Antirheumatic Agents Phase 4,Phase 2,Phase 1
22 Analgesics, Non-Narcotic Phase 4,Phase 2
23 Respiratory System Agents Phase 4,Not Applicable,Early Phase 1
24 Autonomic Agents Phase 4,Not Applicable,Early Phase 1
25 Anti-Asthmatic Agents Phase 4,Not Applicable,Early Phase 1
26 Bronchodilator Agents Phase 4,Not Applicable,Early Phase 1
27 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Not Applicable
28 Ficusin Phase 4,Phase 2
29 Furocoumarins Phase 4,Phase 2
30 Amotosalen Phase 4,Phase 2
31 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
35 Protective Agents Phase 4,Phase 3,Not Applicable
36 Ophthalmic Solutions Phase 4,Phase 2,Phase 3
37 Antihypertensive Agents Phase 4,Phase 2,Phase 3
38 Neurotransmitter Agents Phase 4
39 Cholinergic Agents Phase 4
40 abobotulinumtoxinA Phase 4
41 onabotulinumtoxinA Phase 4
42 Neuromuscular Agents Phase 4
43 Acetylcholine Release Inhibitors Phase 4
44 Botulinum Toxins Phase 4
45 Botulinum Toxins, Type A Phase 4
46 Keratolytic Agents Phase 4
47 Antioxidants Phase 4
48 Radiation-Protective Agents Phase 4,Not Applicable
49 Hylan Phase 4
50 Hypoglycemic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 134)
# Name Status NCT ID Phase Drugs
1 Vitiligo and the Koebner Phenomenon (Model of Vitiligo Induction and Therapy: a Clinical and Immunological Analysis) Unknown status NCT01082393 Phase 4 topical tacrolimus treatment;topical pimecrolimus treatment;local mometasone furoate treatment;cold cream
2 Effect of Fluticasone Proprionate 0.05% on Narrow Band UV-B in Active Vitiligo Unknown status NCT01246921 Phase 4 Fluticasone proprionate 0.05% cream
3 Comparison of Efficacy and Safety of 0.1% Tacrolimus and 0.1% Mometasone Furoate for Adult Vitiligo Unknown status NCT01333410 Phase 4 tacrolimus ointment;Mometasone furoate
4 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
5 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
6 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
7 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 Phase 4
8 NB-UVB and PUVA Vitiligo Study Completed NCT01732965 Phase 4
9 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4 Botulinum toxin A
10 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
11 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
12 Assessment of Atrophogenic Potential of Triple Combination Cream for Treatment of Melasma Completed NCT00469183 Phase 4 Fluocinolone acetonide .1%, hydroquinone 4%, tretinoin .05%
13 A Post-Market Study to Evaluate Adverse Event Incidence Rates in Patients With Skin of Color Undergoing Correction of Nasolabial Folds With Hylaform, Hylaform Plus and Captique. Completed NCT00293163 Phase 4
14 Post Market Safety Study and Effectiveness With Evolence in Subjects With Skin Color Types IV-VI Completed NCT00891774 Phase 4
15 Beneficial Effect of Insulin Glulisine by Lipoatrophy and Type 1 Diabetes (LAS) Enrolling by invitation NCT02914886 Phase 4 Apidra;current insulin
16 Efficacy of Tacrolimus in Adults With Facial Non-segmental Vitiligo - VITAC Unknown status NCT02466997 Phase 3 tacrolimus;Placebo
17 Virus Early Transcription Factor (VETF) Multicenter Phototherapy Protocol Unknown status NCT00525395 Phase 3
18 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
19 Microneedling and Latanoprost in Acrofacial Vitiligo Not yet recruiting NCT03611348 Phase 2, Phase 3 Latanoprost
20 Vitiligo Skin Transplantation Completed NCT00830713 Phase 3
21 Efficacy and Safety of ACH24 in the Treatment of Vitiligo Withdrawn NCT01419964 Phase 3 Group 01;Group 02
22 Assessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo Terminated NCT02191748 Phase 2, Phase 3 Triamcinolone
23 Epidermal Cell Transplantation in Vitiligo Skin Completed NCT01629979 Phase 2, Phase 3
24 Excimer Lamp Versus Excimer Laser in Vitiligo Treatment Completed NCT00696358 Phase 3
25 Comparative Study of Techniques in Melanocyte-Keratinocyte Transplantation for the Treatment of Vitiligo Withdrawn NCT01822379 Phase 2, Phase 3
26 Vitiligo Treated With TL01 Combined With Tacrolimus Ointment Versus Placebo Completed NCT00807690 Phase 3 Tacrolimus ointment
27 Autologous Transplantation of Melanocytes for Treatment of Vitiligo Skin Completed NCT00631865 Phase 3
28 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
29 Interest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo Completed NCT01087216 Phase 2, Phase 3 Bras B : The group control
30 Emervel Deep Lidocaine vs. Juvederm® Ultra Plus in Treatment of Moderate to Severe Facial Wrinkles and Folds Completed NCT01205061 Phase 3
31 Study to Evaluate Immunogenicity of the Hepatitis B Antigen of the GSK Biologicals' Candidate Malaria Vaccine (257049) Completed NCT01345240 Phase 3
32 A Long-Term Extension Study of RoActemra/Actemra (Tocilizumab) in Patients With Juvenile Idiopathic Arthritis From France Who Completed WA19977 Core Study Completed NCT01673919 Phase 3 tocilizumab [RoActemra/Actemra]
33 Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects Recruiting NCT03627767 Phase 3 PF-04965842 100 mg;PF-04965842 200 mg;Placebo
34 A Study to Evaluate the Safety and Efficacy of CB-03-01 Cream, 1% in Subjects With Facial Acne Vulgaris (25) Recruiting NCT02608450 Phase 3 CB-03-01 cream, 1%;Vehicle cream
35 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
36 Efficacy of Red Light in Vitiligo Unknown status NCT01787708 Phase 2
37 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2
38 Treatment and Complication of Bath PUVA in Vitiligo Unknown status NCT00380471 Phase 2
39 Topical Psoralen Ultraviolet Light A Versus Narrow Band Ultraviolet Light B Treatment for Recalcitrant Dermatoses of the Hand Unknown status NCT01792245 Phase 2
40 Repigmentation Using Apremilast and Phototherapy In Diffuse VITILIGO Active, not recruiting NCT03036995 Phase 2 Apremilast
41 A Study of INCB018424 Phosphate Cream in Subjects With Vitiligo Recruiting NCT03099304 Phase 2 INCB018424 cream;Vehicle cream
42 Effectivness of Topical Tacrolimus Monotherapy in Patients With Vitiligo Recruiting NCT03358082 Phase 1, Phase 2 Tacrolimus 0.03% Ointment;Hydrocortisone Acetate 1% Ointment
43 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Recruiting NCT03123016 Phase 2 Apremilast
44 Clinical Trial of Simvastatin to Treat Generalized Vitiligo Completed NCT01517893 Phase 2 Simvastatin;Placebo
45 Atorvastatin in Active Vitiligo Completed NCT02432534 Phase 2 Atorvastatin
46 Topical Ruxolitinib for the Treatment of Vitiligo Completed NCT02809976 Phase 2 Ruxolitinib 1.5% Phosphate Cream
47 Melanocyte Transplantation for Patients With Stable Vitiligo. Completed NCT01701648 Phase 1, Phase 2
48 Afamelanotide and Narrow-Band Ultraviolet B (NB-UVB) Light in the Treatment of Nonsegmental Vitiligo Completed NCT01382589 Phase 2 Afamelanotide
49 Efficacy of Autologous Outer-Root-Sheath Melanocytes Transplantation in the Treatment of Vitiligo Terminated NCT01923142 Phase 2
50 Study of Applications of Autologous Epidermal Cells in Liquid Phase in the Treatment of Vitiligo Completed NCT01511965 Phase 1, Phase 2

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

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


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:
JACE�, cultured epidermis for skin replacement
Embryonic/Adult Cultured Cells Related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:
Cultured epidermis (JACE�) PMIDs: 23265935 17465819 11987545

Cochrane evidence based reviews: vitiligo

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Genetic Tests for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Genetic tests related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

# Genetic test Affiliating Genes
1 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 29 NLRP1
2 Vitiligo 29
Sources

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:

41
Skin, Thyroid, Eye, T Cells, Lung, Liver, Bone
Sources

Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Articles related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

(show top 50) (show all 822)
# Title Authors Year
1
Autoimmune disease: Reversing vitiligo. ( 30160255 )
2018
2
Fibromyalgia Syndrome and Vitiligo: A Novel Association. ( 30207563 )
2018
3
Coexistence of mucous membrane pemphigoid, vitiligo, and hypothyroidism: A second report of a new multiple autoimmune syndrome. ( 30255974 )
2018
4
Development of Vitiligo-Like Depigmentation after Treatment of Lentigo Maligna Melanoma with 5% Imiquimod Cream. ( 30065586 )
2018
5
Wolf's isotopic response: Lichen planus patterns on non-segmental muco-cutaneous vitiligo. ( 29180319 )
2018
6
Vitiligo in a patient undergoing nivolumab treatment for non-small cell lung cancer. ( 30456282 )
2018
7
"Vitiligo and major depressive disorder: a bidirectional population-based cohort study". ( 30528503 )
2018
8
Vitiligo-like depigmentation patterns in patients receving immunotherapy for metastatic melanoma: a case series. ( 30350560 )
2018
9
Induced Vitiligo due to Talimogene Laherparepvec Injection for Metastatic Melanoma Associated with Long-term Complete Response. ( 30281140 )
2018
10
Inflammation drives nitric oxide synthase 2 expression by γδ T cells and affects the balance between melanoma and vitiligo associated melanoma. ( 30228955 )
2018
11
Onychomatricoma in a Patient With Extensive Vitiligo. ( 30531540 )
2018
12
Association Between Psoriasis and Vitiligo: A Systematic Review and Meta-Analysis. ( 30317450 )
2018
13
Decreased SUMOylation of the retinoblastoma protein in keratinocytes during the pathogenesis of vitiligo. ( 30066925 )
2018
14
Image Gallery: Squamous cell carcinoma on an untreated vitiligo lesion. ( 30156284 )
2018
15
Atezolizumab-associated vitiligo-like leukoderma in a patient with transitional cell carcinoma. ( 30091457 )
2018
16
Vitiligo Appearing after Oral Isotretinoin Therapy for Acne. ( 30112221 )
2018
17
Narrow-band UVB effects on cutaneous vitamin D receptor expression and serum 25-hydroxyvitamin D in generalized vitiligo. ( 29080365 )
2018
18
Plasma & urinary catecholamines & urinary vanillylmandelic acid levels in patients with generalized vitiligo. ( 29998874 )
2018
19
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
20
HO-1 regulates the function of Treg: Association with the immune intolerance in vitiligo. ( 29974998 )
2018
21
Reduced immunohistochemical expression of CCN3 in vitiligo. ( 29998862 )
2018
22
Use of the 532-nm Q-switched neodymium-doped yttrium aluminum garnet laser for the treatment of recalcitrant repigmentation in vitiligo. ( 30003131 )
2018
23
Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils. ( 30008646 )
2018
24
Evaluation of the efficacy of transdermal drug delivery of calcipotriol plus betamethasone versus tacrolimus in the treatment of vitiligo. ( 30009490 )
2018
25
Antibody blockade of IL-15 signaling has the potential to durably reverse vitiligo. ( 30021889 )
2018
26
Vitamin D receptor gene polymorphism, serum 25-hydroxyvitamin D levels, and risk of vitiligo: A meta-analysis. ( 30024533 )
2018
27
International Initiative for Outcomes (INFO) for vitiligo: workshops with patients with vitiligo on repigmentation. ( 30030843 )
2018
28
HSP70iQ435A-Encoding DNA Repigments Vitiligo Lesions in Sinclair Swine. ( 30031029 )
2018
29
Vitiligo and social acceptance. ( 30046249 )
2018
30
Polymorphisms in melanocortin system and MYG1 genes are associated with vitiligo. ( 30051642 )
2018
31
A case series pilot study on the combination of 5-aminolevulinic acid and photodynamic therapy (ALA-PDT) for treatment of vitiligo. ( 30066761 )
2018
32
Nivolumab induced vitiligo-like lesions in a patient with metastatic squamous cell carcinoma of the lung. ( 30069410 )
2018
33
Decreased expression of neuregulin1 in the lesional skin of vitiligo patients. ( 30074619 )
2018
34
Post-graft trichrome and Manchurian gravy signs on dermoscopy can predict disease activity in vitiligo lesions post-skin grafting. ( 30074621 )
2018
35
Vitiligo and Psychiatric Morbidity: A Profile from a Vitiligo Clinic of a Rural-based Tertiary Care Center of Eastern India. ( 30078869 )
2018
36
Plasma Thiol Levels are Associated with Disease Severity in Nonsegmental Vitiligo. ( 30078877 )
2018
37
Concurrence of Multiple Cutaneous Malignancies on Sun-exposed Vitiligo Skin of a Patient: A Case Report and Review of the Literature. ( 30078882 )
2018
38
Electrofulguration assisted dermabrasion for recipient-site preparation in non-cultured epidermal-cell suspension (NCES) type vitiligo surgery. ( 30081117 )
2018
39
Ablative fractional Co2 laser aided delivery of long-acting glucocorticoid in the treatment of acral vitiligo: a multicenter, prospective, self-bilateral controlled study. ( 30081694 )
2018
40
What do Vitiligo Impact Scale-22 scores mean? Studying the clinical interpretation of scores using an anchor-based approach. ( 30085349 )
2018
41
Clinical Application of Cultured Stratified Epithelial Sheets Grown Under Feeder or Feeder-Free Conditions for Stable Vitiligo. ( 30096104 )
2018
42
Laser Depigmentation in Extensive Vitiligo. ( 30102626 )
2018
43
Development and validation of the Vitiligo Extent Score for a Target Area (VESTA) to assess the treatment response of a target lesion. ( 30117287 )
2018
44
Role of IL-17A receptor blocking in melanocyte survival: A strategic intervention against vitiligo. ( 30120811 )
2018
45
Cancer Risks in Vitiligo Patients: A Nationwide Population-Based Study in Taiwan. ( 30150564 )
2018
46
Functional nutrition as integrated approach in vitiligo management. ( 30156053 )
2018
47
Genetic polymorphisms of GZMB and vitiligo: A genetic association study based on Chinese Han population. ( 30158536 )
2018
48
Serum homocysteine, folate, and vitamin B12 levels in patients with vitiligo and their potential roles as disease activity biomarkers: A systematic review and meta-analysis. ( 30165163 )
2018
49
Four compartment method as an efficacious and simplified technique for autologous non-cultured epidermal cell suspension preparation in vitiligo surgery: A randomized, active-controlled study. ( 30176093 )
2018
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Laser Ablation of the Recipient Area With Platelet-Rich Plasma-Enriched Epidermal Suspension Transplant in Vitiligo Surgery: A Pilot Study. ( 30188329 )
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Sources

Variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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UniProtKB/Swiss-Prot genetic disease variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1:

75
# Symbol AA change Variation ID SNP ID
1 NLRP1 p.Leu155His VAR_033239 rs12150220

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP1 NM_001033053.2(NLRP1): c.464T> A (p.Leu155His) single nucleotide variant risk factor rs12150220 GRCh37 Chromosome 17, 5485367: 5485367
2 NLRP1 NM_001033053.2(NLRP1): c.464T> A (p.Leu155His) single nucleotide variant risk factor rs12150220 GRCh38 Chromosome 17, 5582047: 5582047
3 NLRP1 NM_033004.3(NLRP1): c.4313G> A (p.Arg1438Gln) single nucleotide variant Uncertain significance rs201167590 GRCh38 Chromosome 17, 5514863: 5514863
4 NLRP1 NM_033004.3(NLRP1): c.4313G> A (p.Arg1438Gln) single nucleotide variant Uncertain significance rs201167590 GRCh37 Chromosome 17, 5418183: 5418183
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Expression for 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.
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Pathways for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Pathways related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 according to KEGG:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

Pathways related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
11.87 CTLA4 KITLG NLRP1 PDCD1 PTPN22
2
Cushing syndrome 37
Show member pathways
 11.43 KITLG MC1R MITF TYR TYRP1
3
Melanocyte Development and Pigmentation 64
10.94 KITLG MC1R MITF
4
T-Cell Receptor and Co-stimulatory Signaling 1
10.81 CTLA4 PDCD1
5
Melanin biosynthesis 66
9.96 TYR TYRP1
Sources

GO Terms for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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Cellular components related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.9 CTLA4 IER3IP1 KITLG MC1R MCHR1 MFRP
2 melanosome GO:0042470 9.13 PMEL TYR TYRP1
3 melanosome membrane GO:0033162 8.62 TYR TYRP1

Biological processes related to Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 humoral immune response GO:0006959 9.33 AIRE MITF PDCD1
2 melanocyte differentiation GO:0030318 9.32 MITF TYRP1
3 melanosome organization GO:0032438 9.26 PMEL TYRP1
4 pigmentation GO:0043473 9.26 MC1R MITF TYR TYRP1
5 melanin biosynthetic process GO:0042438 8.92 MC1R PMEL TYR TYRP1
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Sources for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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