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VAMAS1
MCID: VTL004
MIFTS: 60

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 (VAMAS1)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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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 28 12 5 36 71
Vitiligo 57 11 19 42 75 53 5 41 43 14 16 71 31 33
Vamas1 57 73
Slev1 57 73
Vitiligo-Associated Multiple Autoimmune Disease 1 73
Systemic Lupus Erythematosus, Vitiligo-Related 57
Systemic Lupus Erythematosus Vitiligo-Related 73
Vtlg 57

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:12306
OMIM® 57 606579
ICD9CM 34 709.01
NCIt 49 C26915
SNOMED-CT 68 156437000
ICD10 31 L80
MedGen 40 C1847835
SNOMED-CT via HPO 69 56727007
ICD11 33 1894744640
UMLS 71 C0042900 C1847835
Sources

Summaries for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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MedlinePlus Genetics: 42 Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. The size and number of patches varies from person to person. The condition tends to progress over time, with larger areas of the skin losing pigment. However, the patches can remain stable or even improve in some affected individuals.  Researchers have identified several forms of vitiligo. Generalized vitiligo (also called nonsegmental vitiligo), which is the most common form, involves loss of pigment (depigmentation) in patches of skin all over the body. Depigmentation typically occurs on the face, neck, and scalp, and around body openings such as the mouth and genitals. Sometimes pigment is lost in mucous membranes, such as the lips. Loss of pigmentation is also frequently seen in areas that tend to experience rubbing, impact, or other trauma, such as the hands, arms, and places where bones are close to the skin surface (bony prominences). Another form of the condition, called segmental vitiligo, is associated with smaller patches of depigmented skin that appear on one side of the body in a limited area. This form occurs in about 10 percent of affected individuals.Vitiligo is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. In people with vitiligo the immune system appears to attack the pigment cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo are also affected by at least one other autoimmune disorder, particularly autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, pernicious anemia, Addison disease, systemic lupus erythematosus, celiac disease, Crohn disease, or ulcerative colitis.In the absence of other autoimmune conditions, vitiligo does not affect general health or physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected individuals.

MalaCards based summary: Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1, also known as vitiligo, is related to alopecia areata and vogt-koyanagi-harada disease, 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 Regulation of expression of SLITs and ROBOs 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 t cells, and related phenotypes are vitiligo and homeostasis/metabolism

MedlinePlus: 41 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

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus.

Disease Ontology: 11 An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.

Wikipedia: 75 Vitiligo is a disorder that causes the skin to lose its color. Specific causes are unknown but studies... 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 907)
# Related Disease Score Top Affiliating Genes
1 alopecia areata 32.5 TPO PTPN22 CTLA4 AIRE
2 vogt-koyanagi-harada disease 31.9 TYR PTPN22 CTLA4 CD8A CCR6
3 autoimmune polyendocrine syndrome, type ii 31.8 PTPN22 POMC CCR6 AIRE
4 autoimmune disease 31.5 TPO PTPN22 NLRP1 DDC CTLA4 CCR6
5 hypothyroidism 31.4 TPO PTPN22 POMC CTLA4 AIRE
6 thyroiditis 31.4 TPO PTPN22 CTLA4 AIRE
7 pernicious anemia 31.1 TPO PTPN22 CCR6 AIRE
8 hashimoto thyroiditis 31.1 TPO PTPN22 CTLA4 CD8A CCR6 AIRE
9 dermatitis, atopic 31.1 KITLG CTLA4 CD8A CCR6
10 skin disease 31.0 TYRP1 TYR POMC PMEL MLANA MITF
11 graves' disease 31.0 TPO PTPN22 CTLA4 AIRE
12 fungal infectious disease 31.0 CD8A CCR6 AIRE
13 skin carcinoma 30.9 TYRP1 TYR POMC MLANA MITF CTLA4
14 melanoma 30.9 TYRP1 TYR POMC PMEL MLANA MITF
15 piebald trait 30.8 TYRP1 TYR MITF KITLG DCT
16 albinism 30.8 TYRP1 TYR MITF DCT
17 skin melanoma 30.8 TYR MLANA MITF CTLA4 CCR6
18 lupus erythematosus 30.8 PTPN22 NLRP1 CTLA4 CCR6
19 pigmentation disease 30.8 TYR POMC MITF
20 autoimmune polyendocrine syndrome 30.7 PTPN22 CCR6 AIRE
21 microphthalmia 30.7 TYRP1 TYR POMC PMEL MLANA MITF
22 melanoma in congenital melanocytic nevus 30.7 TYR PMEL MLANA MITF
23 type 1 diabetes mellitus 30.7 TPO PTPN22 CTLA4 CCR6 AIRE
24 hypoadrenocorticism, familial 30.7 TPO PTPN22 POMC DDC CTLA4 CCR6
25 exanthem 30.6 CTLA4 CD8A CCR6
26 celiac disease 1 30.6 TPO PTPN22 CTLA4 CD8A CCR6 AIRE
27 anemia, autoimmune hemolytic 30.6 CTLA4 CD8A CCR6
28 hyperthyroidism 30.5 TPO POMC CTLA4
29 primary biliary cholangitis 30.5 CTLA4 CD8A CCR6 AIRE
30 behcet syndrome 30.5 PTPN22 NLRP1 CTLA4 CD8A CCR6
31 hypoparathyroidism 30.5 TPO CTLA4 AIRE
32 amelanotic melanoma 30.5 TYRP1 TYR MLANA MITF DCT
33 chickenpox 30.4 CTLA4 CD8A CCR6
34 myasthenia gravis 30.4 PTPN22 CTLA4 AIRE
35 evans' syndrome 30.4 CTLA4 CD8A CCR6
36 autoimmune hepatitis 30.3 TPO PTPN22 DDC CTLA4 AIRE
37 ocular melanoma 30.3 TYR PMEL MLANA MITF CTLA4
38 skin sarcoidosis 30.2 CTLA4 CD8A CCR6
39 neurilemmoma 30.2 TYR MLANA MITF
40 albinism, oculocutaneous, type ia 30.2 TYRP1 TYR
41 sezary's disease 30.2 CTLA4 CD8A CCR6
42 autoimmune gastritis 30.2 TPO CTLA4 CD8A CCR6 AIRE
43 neurofibroma 30.2 TYR MLANA MITF KITLG
44 oculocutaneous albinism 30.1 TYRP1 TYR PMEL MITF DCT
45 hair disease 30.1 POMC CD8A CCR6 AIRE
46 waardenburg's syndrome 30.1 TYRP1 TYR MITF KITLG DCT
47 systemic lupus erythematosus 30.1 TPO PTPN22 NLRP1 FGF2 CTLA4 CD8A
48 melanoma, uveal 30.1 TYR PMEL MLANA MITF DCT CTLA4
49 albinism, oculocutaneous, type iii 30.1 TYRP1 TYR DCT
50 orbital plasma cell granuloma 30.0 TPO CTLA4

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

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vitiligo 30 HP:0001045

Clinical features from OMIM®:

606579 (Updated 08-Dec-2022)

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


pruritus; exanthema

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 AIRE CCR6 CD8A CTLA4 DCT DDC
2 no effect GR00402-S-2 10.2 AIRE CCR6 CTLA4 DCT DDC FGF2

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

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 AIRE CCR6 CTLA4 DCT DDC FGF2
2 nervous system MP:0003631 10.34 AIRE CCR6 CD8A DCT DDC FGF2
3 pigmentation MP:0001186 10.25 CTLA4 DCT KITLG MITF MLANA PAH
4 immune system MP:0005387 10.18 AIRE CCR6 CD8A CTLA4 DDC KITLG
5 endocrine/exocrine gland MP:0005379 10.14 AIRE CD8A CTLA4 KITLG MITF NLRP1
6 renal/urinary system MP:0005367 10.08 CD8A DDC MITF PAH PCBD1 POMC
7 vision/eye MP:0005391 10.07 AIRE DCT DDC FGF2 KITLG MITF
8 skeleton MP:0005390 10.02 CTLA4 DDC FGF2 KITLG MCHR1 MITF
9 hematopoietic system MP:0005397 10 AIRE CCR6 CD8A CTLA4 FGF2 KITLG
10 hearing/vestibular/ear MP:0005377 9.91 FGF2 KITLG MITF TPO TYR TYRP1
11 mortality/aging MP:0010768 9.8 AIRE CD8A CTLA4 DDC FGF2 KITLG
12 integument MP:0010771 9.47 CD8A CTLA4 DCT KITLG MITF MLANA
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 139)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7 4240 441336
2
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643
3
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5
4
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078 5280363
5
Travoprost Approved Phase 4 157283-68-6 5282226
6
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6509979
7
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
8
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
9
Fluorouracil Approved Phase 4 51-21-8 3385
10
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
11
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
12
Isotretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4, 4759-48-2 5538 444795 5282379
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
14 Calcineurin Inhibitors Phase 4
15 Anti-Allergic Agents Phase 4
16 Neurotransmitter Agents Phase 4
17
abobotulinumtoxinA Phase 4
18 Botulinum Toxins, Type A Phase 4
19 Botulinum Toxins Phase 4
20 Cholinergic Agents Phase 4
21 Furocoumarins Phase 4
22 Immunosuppressive Agents Phase 4
23 Dermatologic Agents Phase 4
24 Immunologic Factors Phase 4
25 Antimetabolites Phase 4
26 Insulin, Globin Zinc Phase 4
27
Insulin Phase 4
28 Folic Acid Antagonists Phase 4
29 Folate Phase 4
30 Vitamin B9 Phase 4
31 Vitamin B Complex Phase 4
32
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
33
Povidone-iodine Approved Phase 2, Phase 3 25655-41-8
34
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
35 Anesthetics, Local Phase 2, Phase 3
36 Hormones Phase 2, Phase 3
37 Hormone Antagonists Phase 2, Phase 3
38 glucocorticoids Phase 2, Phase 3
39
Triamcinolone hexacetonide Phase 2, Phase 3
40
Triamcinolone diacetate Phase 2, Phase 3
41
Triamcinolone Acetonide Phase 2, Phase 3 6436
42
Hydrocortisone succinate Approved Phase 1, Phase 2 2203-97-6 3643
43
Hydrocortisone acetate Approved, Vet_approved Phase 1, Phase 2 50-03-3
44
Hydrocortisone Approved, Vet_approved Phase 1, Phase 2 50-23-7 3640 5754
45
Apremilast Approved, Investigational Phase 2 608141-41-9 10151715 11561674
46
Atorvastatin Approved Phase 2 134523-00-5 60823
47
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
48
Etanercept Approved, Investigational Phase 2 185243-69-0
49
Afamelanotide Approved, Investigational Phase 2 75921-69-6 16132954 16197727
50
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030

Interventional clinical trials:

(show top 50) (show all 197)
# Name Status NCT ID Phase Drugs
1 Effect of Fluticasone Proprionate 0.05% Cream on Narrow Band UV-B Phototherapy in Active Vitiligo: a Randomised Single Blinded Controlled Trial Unknown status NCT01246921 Phase 4 Fluticasone proprionate 0.05% cream
2 Autologous Punch Grafting in Vitiligo Patients: the Effect of Punchdepth and Punchsize Unknown status NCT01377077 Phase 4
3 Safety And Efficacy Of Topical Prostaglandin F2α Analogs In Combination With Fractional CO2 Laser And 308 Excimer Light In Treatment Of Vitiligo Unknown status NCT04577027 Phase 4 Topical travoprost 0.004% solution
4 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Unknown status NCT03199664 Phase 4
5 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Pilot Study Unknown status NCT01640678 Phase 4
6 Bimatoprost 0.03% Solution, NB-UVB and Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Unknown status NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
7 Comparison the Efficacy and Safety of 0.1% Tacrolimus Ointment With 0.1% Mometasone Furoate Cream in the Treatment of Adult Vitiligo: A Single Blinded Pilot Study Unknown status NCT01333410 Phase 4 tacrolimus ointment;Mometasone furoate
8 Vitiligo and the Koebner Phenomenon (Model of Vitiligo Induction and Therapy: a Clinical and Immunological Analysis) Completed NCT01082393 Phase 4 topical tacrolimus treatment;topical pimecrolimus treatment;local mometasone furoate treatment;cold cream
9 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Study on the Recipient Site Preparation Completed NCT02458417 Phase 4
10 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4 Botulinum toxin A
11 Prospective Open Parallel Right to Left Bilateral Study Comparing Narrowband Ultraviolet B Alone Versus Narrowband Ultraviolet B and Psoralen Plus Ultraviolet A for the Treatment of Vitiligo Completed NCT01732965 Phase 4
12 Development and Clinical Evaluation of Topical 5-Fluorouracil Effervescent Powder Formulation in the Treatment of Vitiligo Recruiting NCT05536856 Phase 4 a new effervescent mixture 5-florouracil formula;5-Fluorouracil plain powder
13 Efficacy and Safety of Diphenylcyclopropenone (DPCP) as a Depigmenting Therapy in Extensive Vitiligo Recruiting NCT04775979 Phase 4 diphenylcyclopropenone (DPCP)
14 Latanoprost Plus NB-UVB Versus Each Alone in Non-segmental Vitiligo: Clinical and Laboratory Evaluation Active, not recruiting NCT04811326 Phase 4 Latanoprost
15 Efficacy of Fractional CO2 Laser-assisted Cutaneous Delivery of Methotrexate Versus 5-fluorouracil in Stable Non-segmental Vitiligo Not yet recruiting NCT05008887 Phase 4 Methotrexate;5-fluorouracil
16 Efficacy and Safety of Topical Bimatoprost Solution 0.03% in Stable Vitiligo:A Preliminary Study Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
17 Continuative vs Sequential Phototherapy in Non-segmental Vitiligo Patients Unknown status NCT00525395 Phase 3
18 Effectiveness of Microneedling and Topical Latanoprost in Treatment of Acrofacial Vitiligo Unknown status NCT03611348 Phase 2, Phase 3 Latanoprost
19 Topical Ruxolitinib Evaluation in Vitiligo Study 1 (TRuE-V1): A Phase 3, Double-Blind, Randomized, Vehicle-Controlled, Efficacy and Safety Study of Ruxolitinib Cream Followed by an Extension Period in Participants With Vitiligo Completed NCT04052425 Phase 3 Ruxolitinib cream;Vehicle
20 Topical Ruxolitinib Evaluation in Vitiligo Study 2 (TRuE-V2): A Phase 3, Double-Blind, Randomized, Vehicle-Controlled, Efficacy and Safety Study of Ruxolitinib Cream Followed by an Extension Period in Participants With Vitiligo Completed NCT04057573 Phase 3 Ruxolitinib cream;Vehicle
21 Treatment of Vitiligo With Narrowband UVB (TL01) Combined With Tacrolimus (0.1%) Versus Placebo Ointment, a Randomized Right/Left Double Blind Comparative Study Completed NCT00807690 Phase 3 Tacrolimus ointment
22 Safety and Efficacy of Melanocyte-keratinocyte Transplantation in the Treatment of Vitiligo Completed NCT00830713 Phase 3
23 Autologous Transplantation of Melanocytes for Treatment of Vitiligo Skin Completed NCT00631865 Phase 3
24 Comparative Study of 308nm Excimer Lamp and 308nm Excimer Laser in the Treatment of Vitiligo Completed NCT00696358 Phase 3
25 Efficacy and Tolerance of Transplantation of Harvested Epidermal Cells and Narrow-Band UVB in Vitiligo Completed NCT01629979 Phase 2, Phase 3
26 Interest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo Completed NCT01087216 Phase 2, Phase 3 Bras B : The group control
27 Efficacy of Tacrolimus Ointment 0.1% Versus Placebo in Adults With Facial Non-segmental Vitiligo: a Randomized Double-blind Controlled Study Completed NCT02466997 Phase 3 tacrolimus;Placebo
28 A Multicenter Double-blind Placebo-controlled Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Completed NCT02156427 Phase 3
29 A PHASE 3 RANDOMIZED, DOUBLE-BLIND, 52-WEEK PLACEBO-CONTROLLED, MULTI-CENTER STUDY INVESTIGATING THE EFFICACY, SAFETY, AND TOLERABILITY OF RITLECITINIB IN ADULT AND ADOLESCENT PARTICIPANTS WITH NON SEGMENTAL VITILIGO Recruiting NCT05583526 Phase 3 Ritlecitinib;Placebo
30 The Evaluation of Vitiligous Lesions Repigmentation After Topical Administration of Methotrexate in Patients With Active Vitiligo Recruiting NCT04942860 Phase 3 1% Methotrexate gel;0.5% Methotrexate gel
31 Efficacy of Topical 5-fluorouracil Versus Topical Latanoprost With Microneedling in Localized Stable Vitiligo: A Randomised Clinical Trial Active, not recruiting NCT05513924 Phase 2, Phase 3 Latanoprost 0.005% Ophthalmic Solution;5Fluorouracil
32 A Double-Blind, Vehicle-Controlled, Randomized Withdrawal and Treatment Extension Study to Assess the Long-Term Efficacy and Safety of Ruxolitinib Cream in Participants With Vitiligo Active, not recruiting NCT04530344 Phase 3 ruxolitinib;Vehicle
33 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control, Randomized and Double Blind Study Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
34 A Randomized, Double-blind, Vehicle-Controlled, Phase II/Ⅲ Seamless Adaptive Clinical Trail to Evaluate the Efficacy and Safety of SHR0302 Ointment in Adult Patients With Vitiligo Terminated NCT04774809 Phase 2, Phase 3 Low Dose SHR0302 Ointment BID;High Dose SHR0302 Ointment BID
35 Assessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo Terminated NCT02191748 Phase 2, Phase 3 Triamcinolone
36 Phase III, Multicenter, Randomized, Double-blind, Placebo-controlled Parallel Group Study of the Efficacy and Safety of ACH24 in the Treatment of Vitiligo Withdrawn NCT01419964 Phase 3 Group 01;Group 02
37 Comparative Study of the Use of Trypsin Versus Dispase in Melanocyte-Keratinocyte Transplantation for the Treatment of Vitiligo Withdrawn NCT01822379 Phase 2, Phase 3
38 Effectivness of Topical Tacrolimus 0.03% Monotherapy in Patients With Vitiligo: Arandomized Controlled Trial Unknown status NCT03358082 Phase 1, Phase 2 Tacrolimus 0.03% Ointment;Hydrocortisone Acetate 1% Ointment
39 Treatment and Complication of Bath PUVA in Vitiligo Unknown status NCT00380471 Phase 2
40 Efficacy of Red Light in Vitiligo: A Prospective, Single-Blind Randomized Controlled Trial Unknown status NCT01787708 Phase 2
41 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2
42 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
43 Topical Psoralen Ultraviolet Light A Versus Narrow Band Ultraviolet Light B Treatment for Recalcitrant Dermatoses of the Hand: A Prospective Randomized, Single-blinded Controlled Clinical Trial Unknown status NCT01792245 Phase 2
44 Repigmentation Using Apremilast and Phototherapy In Diffuse VITILIGO RAPID VITILIGO Completed NCT03036995 Phase 2 Apremilast
45 A Two-Arm, Randomized, Double-Blind, Phase IIb Study to Compare the Efficacy and Safety of Subcutaneous, Bioresorbable Afamelanotide Implants Plus Narrow-Band Ultraviolet B (NB-UVB) Light Source With Narrow-Band Ultraviolet B (NB-UVB) Light Source in the Treatment of Nonsegmental Vitiligo AND A Single-Arm, Open Label, Phase IIb Study to Evaluate the Efficacy and Safety of Subcutaneous, Bioresorbable Afamelanotide Implants Plus Narrow-Band Ultraviolet B (NB-UVB) Light Source in the Treatment of Nonsegmental Vitiligo Completed NCT04525157 Phase 2 Afamelanotide;Placebo
46 A Phase 2a, Randomized, Double-Blind, Vehicle-Controlled Study to Assess the Safety, Tolerability, and Systemic Exposure of Cerdulatinib Gel, 0.37% in Adults With Vitiligo Completed NCT04103060 Phase 2 Cerdulatinib 0.37% gel;Vehicle gel
47 Phase I-II, Randomized, Intraindividually Placebo Controlled Clinical Trial, to Evaluate the Efficacy of Autologous Melanocyte Transplantion on Amniotic Membrane as a Substrate for Patients With Stable Vitiligo. Completed NCT01701648 Phase 1, Phase 2
48 Efficacy and Safety of Pimecrolimus for the Treatment of Vitiligo Vulgaris Completed NCT00372307 Phase 2 Application of pimecrolimus
49 A PHASE 2B RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTICENTER, DOSE-RANGING STUDY TO EVALUATE THE EFFICACY AND SAFETY PROFILE OF PF-06651600 WITH A PARTIALLY BLINDED EXTENSION PERIOD TO EVALUATE THE EFFICACY AND SAFETY OF PF-06651600 AND PF-06700841 IN SUBJECTS WITH ACTIVE NON-SEGMENTAL VITILIGO Completed NCT03715829 Phase 2 PF-06651600;placebo;PF06700841
50 A Randomized, Double-Blind, Dose-Ranging Study of INCB018424 Phosphate Cream in Subjects With Vitiligo Completed NCT03099304 Phase 2 Ruxolitinib cream;Vehicle cream

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Methoxsalen
monobenzone
Trioxsalen

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

Sources

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 28 NLRP1
Sources

Anatomical Context for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

MalaCards : Skin, Thyroid, T Cells, Bone Marrow, Brain, Adrenal Cortex, Liver
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 8182)
# Title Authors PMID Year
1
NALP1 in vitiligo-associated multiple autoimmune disease. 62 57 5
17377159 2007
2
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 53 62 57
20410501 2010
3
Common variants in FOXP1 are associated with generalized vitiligo. 62 57
20526340 2010
4
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 62 57
20526339 2010
5
Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. 62 57
14691733 2004
6
Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. 62 57
11592035 2001
7
Genetic epidemiology of vitiligo: multilocus recessivity cross-validated. 62 57
7977362 1994
8
Pattern of familial aggregation of vitiligo. 62 57
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A genetical model for vitiligo. 62 57
3400640 1988
10
Unstable mutations in vitiligo, organ-specific autoimmune diseases, and multiple endocrine adenoma/peptic-ulcer syndrome. 62 57
6105440 1980
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Vitiligo and dysgammaglobulinemia. A case report and family study. 62 57
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Vitiligo. 62 57
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13
Role of chemical exposure in the incidence of vitiligo: a case-control study in Tunisia. 62 41
36433836 2023
14
Study on the Mechanism of miR-125b-5p Affecting Melanocyte Biological Behavior and Melanogenesis in Vitiligo through Regulation of MITF. 62 41
36438898 2022
15
Immunometabolism in the pathogenesis of vitiligo. 62 41
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16
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus. 57
15232734 2004
17
The role of VIT1/FBXO11 in the regulation of apoptosis and tyrosinase export from endoplasmic reticulum in cultured melanocytes. 53 62
20514423 2010
18
First histopathological and immunophenotypic analysis of early dynamic events in a patient with segmental vitiligo associated with halo nevi. 53 62
20370855 2010
19
Diet in dermatology: revisited. 53 62
20228538 2010
20
Oxidative stress level and tyrosinase activity in vitiligo patients. 53 62
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21
CTLA-4 A49G gene polymorphism is not associated with vitiligo in South Indian population. 53 62
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22
Circulatory levels of antioxidants and lipid peroxidation in Indian patients with generalized and localized vitiligo. 53 62
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23
Association study between keratinocyte-derived growth factor gene polymorphisms and susceptibility to vitiligo vulgaris in a Taiwanese population: potential involvement of stem cell factor. 53 62
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24
Mapping of melanin-concentrating hormone receptor 1 B cell epitopes predicts two major binding sites for vitiligo patient autoantibodies. 53 62
19320743 2009
25
Determination of oxidative stress in vitiligo by measuring superoxide dismutase and catalase levels in vitiliginous and non-vitiliginous skin. 53 62
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26
Antioxidant enzymes and lipid peroxidation at the tissue level in patients with stable and active vitiligo. 53 62
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27
CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. 53 62
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28
Absence of tyrosinase-related protein-2/dopachrome tautomerase transcripts in PBMCs from vitiligo patients. 53 62
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29
Association between IL4 (-590), ACE (I)/(D), CCR5 (Delta32), CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo. 53 62
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30
H(2)O(2) increases de novo synthesis of (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin via GTP cyclohydrolase I and its feedback regulatory protein in vitiligo. 53 62
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31
Vaccine-specific local T cell reactivity in immunotherapy-associated vitiligo in melanoma patients. 53 62
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32
A double-blind, randomized trial of 0.05% betamethasone vs. topical catalase/dismutase superoxide in vitiligo. 53 62
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Expressional changes in the intracellular melanogenesis pathways and their possible role in the pathogenesis of vitiligo. 53 62
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Novel homozygous AIRE mutation in a German patient with severe APECED. 53 62
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35
Genetic association study of polymorphisms in the catalase gene with the risk of osteonecrosis of the femoral head in the Korean population. 53 62
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36
The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. 53 62
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37
Presence of epidermal allantoin further supports oxidative stress in vitiligo. 53 62
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38
[Abnormal nuclear translocation of nuclear factor-E2 related factor 2 in the lesion of vitiligo]. 53 62
19087715 2008
39
Lack of functionally active Melan-A(26-35)-specific T cells in the blood of HLA-A2+ vitiligo patients. 53 62
18337837 2008
40
PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. 53 62
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41
Computer simulation of heterogeneous single nucleotide polymorphisms in the catalase gene indicates structural changes in the enzyme active site, NADPH-binding and tetramerization domains: a genetic predisposition for an altered catalase in patients with vitiligo? 53 62
18315617 2008
42
The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. 53 62
18426414 2008
43
Methionine sulfoxide reductases A and B are deactivated by hydrogen peroxide (H2O2) in the epidermis of patients with vitiligo. 53 62
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44
Vogt-Koyanagi-Harada disease and vitiligo: where does the illness begin? 53 62
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Gene expression analysis of melanocortin system in vitiligo. 53 62
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Vitiligo puzzle: the pieces fall in place. 53 62
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Protein tyrosine phosphatase PTPN22 in human autoimmunity. 53 62
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48
[Expression and purification of epitope peptide of human tyrosinase and its antigenicity in vitiligo patients]. 53 62
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Oxidative stress via hydrogen peroxide affects proopiomelanocortin peptides directly in the epidermis of patients with vitiligo. 53 62
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Effects of psoralen plus ultraviolet A irradiation on cultured epidermal cells in vitro and patients with vitiligo in vivo. 53 62
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Sources

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:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP1 NM_033004.4(NLRP1):c.464T>A (p.Leu155His) SNV Risk Factor
 4163 rs12150220 GRCh37: 17:5485367-5485367
GRCh38: 17:5582047-5582047
2 KIF1B NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) SNV Uncertain Significance
 374063 rs757850683 GRCh37: 1:10425479-10425479
GRCh38: 1:10365421-10365421
3 ITK NM_005546.4(ITK):c.1562C>T (p.Pro521Leu) SNV Uncertain Significance
 1481575 GRCh37: 5:156672938-156672938
GRCh38: 5:157245928-157245928

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

73
# Symbol AA change Variation ID SNP ID
1 NLRP1 p.Leu155His VAR_033239 rs12150220

Sources

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 GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Regulation of expression of SLITs and ROBOs 66
Show member pathways
 12.8 DCT DDC PAH PCBD1 TPO TYR
2
NF-kappaB Signaling 3
12.15 PTPN22 NLRP1 MLANA KITLG CTLA4 CD8A
3
Neural crest differentiation 74
11.69 MITF FGF2 DCT
4
CCL18 signaling pathway 74
11.65 KITLG FGF2 CCR6
5
Pluripotent stem cell differentiation pathway 74
11.29 TPO KITLG FGF2
6
Melanocyte Development and Pigmentation 64
11.19 POMC MITF KITLG
7
Tyrosine metabolism p.1 (dopamine) 22
10.75 TYR PAH DDC
8
Genes associated with the development of rheumatoid arthritis 74
10.69 PTPN22 CTLA4 CCR6
9
GPR143 in melanocytes and retinal pigment epithelium cells 74
10.61 TYRP1 TYR POMC PMEL MLANA MITF
10
Dopamine metabolism 74
10.59 TYR DDC
11
L-phenylalanine degradation I (aerobic) 61
Show member pathways
 10.36 PCBD1 PAH
12
Melanin biosynthesis 66
9.83 TYRP1 TYR DCT
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 plasma membrane GO:0005886 10.16 TPO PMEL MLANA MCHR1 CTLA4 CD8A
2 plasma membrane GO:0005887 10.16 TPO PMEL MLANA MCHR1 CTLA4 CD8A
3 melanosome GO:0042470 9.65 TYRP1 TYR PMEL MLANA DCT
4 melanosome membrane GO:0033162 9.23 TYRP1 TYR PMEL DCT

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 response to blue light GO:0009637 9.62 TYR DCT
2 tyrosine biosynthetic process, by oxidation of phenylalanine GO:0019293 9.56 PCBD1 PAH
3 catecholamine biosynthetic process GO:0042423 9.54 PAH DDC
4 melanin biosynthetic process from tyrosine GO:0006583 9.46 TYR DCT
5 pigmentation GO:0043473 9.35 TYRP1 TYR MITF DCT
6 melanin biosynthetic process GO:0042438 9.17 TYRP1 TYR PMEL DCT

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

# Name GO ID Score Top Affiliating Genes
1 phenylalanine 4-monooxygenase activity GO:0004505 9.26 PCBD1 PAH
2 tyrosinase activity GO:0004503 8.92 TYRP1 TYR
Sources

Sources for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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