VAMAS1
MCID: VTL004
MIFTS: 59

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 (VAMAS1)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

Name: Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 56 29 13 6 37 39 71
Vitiligo 56 12 74 52 25 36 54 6 42 43 15 17 71 32
Vamas1 56 73
Slev1 56 73
Vtlg 56 25
Systemic Lupus Erythematosus, Vitiligo-Related; Slev1 56
Vitiligo-Associated Multiple Autoimmune Disease 1 73
Systemic Lupus Erythematosus, Vitiligo-Related 56
Systemic Lupus Erythematosus Vitiligo-Related 73
Vitiligo; Vtlg 56

Characteristics:

HPO:

31
vitiligo-associated multiple autoimmune disease susceptibility 1:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12306
OMIM 56 606579
KEGG 36 H01372
ICD9CM 34 709.01
NCIt 49 C26915
SNOMED-CT 67 56727007
ICD10 32 L80
MedGen 41 C1847835
UMLS 71 C0042900 C1847835

Summaries for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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. 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 called segmental vitiligo is associated with smaller patches of depigmented skin that appear on one side of the body in a limited area; this 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, or systemic lupus erythematosus. 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 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 Aldosterone synthesis and secretion. The drugs Pimecrolimus and mometasone furoate 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

Disease Ontology : 12 An autoimmune hypersensitivity disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 42 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

KEGG : 36 Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1.

UniProtKB/Swiss-Prot : 73 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 : 74 Vitiligo is a long-term skin condition characterized by patches of the skin losing their pigment. The... more...

Related Diseases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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 703)
# Related Disease Score Top Affiliating Genes
1 alopecia areata 33.4 TPO PTPN22 CTLA4 AIRE
2 halo nevi 33.2 TYR PMEL MLANA
3 vogt-koyanagi-harada disease 32.9 TYRP1 TYR PTPN22 PMEL NLRP1 CD8A
4 hypoadrenocorticism, familial 32.4 TPO PTPN22 POMC DDC CTLA4 AIRE
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.8 TPO PTPN22 CTLA4 AIRE
6 autoimmune disease 31.7 TPO PTPN22 NLRP1 CTLA4 CCR6 AIRE
7 thyroiditis 31.6 TPO PTPN22 CTLA4
8 skin disease 31.5 TYR MITF CTLA4 CD8A CCR6 CAT
9 dowling-degos disease 1 31.3 TYRP1 TYR POMC MITF KITLG
10 hashimoto thyroiditis 31.3 TPO PTPN22 CTLA4 AIRE
11 hypothyroidism 31.3 TPO PTPN22 POMC CTLA4 AIRE
12 albinism 31.2 TYRP1 TYR MITF
13 skin carcinoma 31.2 TYRP1 TYR POMC MLANA CCR6
14 melanoma 31.1 TYRP1 TYR PMEL MLANA MITF DCT
15 graves' disease 31.1 TPO PTPN22 CTLA4 AIRE
16 pernicious anemia 31.1 TPO PTPN22 NLRP1 CCR6 AIRE
17 piebald trait 31.1 TYRP1 TYR MITF KITLG
18 systemic scleroderma 31.0 TPO KITLG CD8A CCR6
19 lupus erythematosus 31.0 PTPN22 NLRP1 CTLA4 CAT
20 myasthenia gravis 30.9 PTPN22 CTLA4 AIRE
21 skin melanoma 30.9 TYR PMEL MLANA MITF CCR6
22 nail disorder, nonsyndromic congenital, 1 30.8 CCR6 AIRE
23 hyperthyroidism 30.7 TPO POMC CTLA4
24 exanthem 30.7 CTLA4 CD8A CCR6
25 microphthalmia 30.7 TYRP1 TYR POMC PMEL MLANA MITF
26 syphilis 30.7 CD8A CCR6 CAT
27 celiac disease 1 30.5 TPO PTPN22 CTLA4 CD8A CCR6 AIRE
28 autoimmune hepatitis 30.5 TPO DDC CTLA4 AIRE
29 thymoma 30.5 PTPN22 CTLA4 CD8A AIRE
30 lentigo maligna melanoma 30.4 MLANA MITF
31 amelanotic melanoma 30.4 TYRP1 TYR MLANA MITF DCT CAT
32 neurofibroma 30.4 TYR MLANA MITF KITLG
33 hyperphenylalaninemia 30.4 PCBD1 PAH CAT
34 autoimmune addison disease 30.4 NLRP1 CTLA4 AIRE
35 malignant choroid melanoma 30.4 MLANA MITF
36 oculocutaneous albinism 30.4 TYRP1 TYR PMEL MITF DCT
37 spongiotic dermatitis 30.3 CD8A CCR6
38 autoimmune polyendocrine syndrome 30.3 TPO DDC CCR6 AIRE
39 ocular albinism 30.2 TYRP1 TYR MLANA MITF
40 phenylketonuria 30.2 PCBD1 PAH CAT
41 myxedema 30.2 TPO POMC CTLA4
42 central nervous system vasculitis 30.1 PTPN22 CTLA4 CD8A CCR6
43 chronic mucocutaneous candidiasis 30.1 PTPN22 CD8A CCR6 AIRE
44 temporal arteritis 30.1 PTPN22 CTLA4 CD8A CCR6
45 waardenburg's syndrome 30.1 TYRP1 TYR POMC MITF KITLG DCT
46 cholangitis, primary sclerosing 30.0 CD8A CCR6 AIRE
47 inflammatory bowel disease 30.0 PTPN22 NLRP1 CTLA4 CD8A CCR6 CAT
48 melanoma, uveal 30.0 TYR PMEL MLANA MITF DCT CTLA4
49 systemic lupus erythematosus 29.8 TPO PTPN22 NLRP1 CTLA4 CD8A CCR6
50 melanoma, cutaneous malignant 1 29.6 TYRP1 TYR PMEL MLANA MITF KITLG

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

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

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

31
# Description HPO Frequency HPO Source Accession
1 vitiligo 31 HP:0001045

Clinical features from OMIM:

606579

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 AIRE CAT CCR6 CTLA4 DCT DDC
2 hematopoietic system MP:0005397 10.21 AIRE CCR6 CD8A CTLA4 KITLG MITF
3 immune system MP:0005387 10.15 AIRE CCR6 CD8A CTLA4 DDC KITLG
4 endocrine/exocrine gland MP:0005379 10.11 AIRE CD8A CTLA4 KITLG MITF POMC
5 integument MP:0010771 10.1 CD8A CTLA4 DCT KITLG MITF MLANA
6 nervous system MP:0003631 10.03 AIRE CCR6 CD8A DCT DDC KITLG
7 pigmentation MP:0001186 9.9 CTLA4 DCT KITLG MITF MLANA PAH
8 renal/urinary system MP:0005367 9.56 CD8A DDC MITF PAH PCBD1 POMC
9 vision/eye MP:0005391 9.36 AIRE DCT DDC KITLG MITF PAH

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

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
2
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
3
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
4
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
5 Amotosalen Phase 4
6 Ficusin Phase 4
7 Furocoumarins Phase 4
8 Neurotransmitter Agents Phase 4
9 Acetylcholine Release Inhibitors Phase 4
10 Botulinum Toxins Phase 4
11 abobotulinumtoxinA Phase 4
12 Neuromuscular Agents Phase 4
13 Cholinergic Agents Phase 4
14 Botulinum Toxins, Type A Phase 4
15 Dermatologic Agents Phase 4
16
Zinc Approved, Investigational Phase 3 7440-66-6 32051
17
Zinc sulfate Approved, Investigational Phase 3 7733-02-0
18
Latanoprost Approved, Investigational Phase 2, Phase 3 130209-82-4 5282380 5311221
19
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
20
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
21 Protective Agents Phase 3
22 Adjuvants, Immunologic Phase 3
23 Viscosupplements Phase 3
24 Janus Kinase Inhibitors Phase 3
25 insulin Phase 3
26 Insulin, Globin Zinc Phase 3
27 Trace Elements Phase 3
28 Micronutrients Phase 3
29 Nutrients Phase 3
30 Astringents Phase 3
31 Immunologic Factors Phase 2, Phase 3
32 Immunosuppressive Agents Phase 2, Phase 3
33 Calcineurin Inhibitors Phase 2, Phase 3
34 Hormone Antagonists Phase 2, Phase 3
35 Hormones Phase 2, Phase 3
36 Triamcinolone hexacetonide Phase 2, Phase 3
37 triamcinolone acetonide Phase 2, Phase 3
38 Triamcinolone diacetate Phase 2, Phase 3
39 glucocorticoids Phase 2, Phase 3
40
Hydrocortisone acetate Approved, Vet_approved Phase 1, Phase 2 50-03-3
41
Hydrocortisone Approved, Vet_approved Phase 1, Phase 2 50-23-7 5754
42
Etanercept Approved, Investigational Phase 2 185243-69-0
43
Afamelanotide Approved, Investigational Phase 2 75921-69-6
44
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
45
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
46
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
47
Pembrolizumab Approved Phase 2 1374853-91-4
48
Durvalumab Approved, Investigational Phase 2 1428935-60-7
49
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
50
Bavituximab Investigational Phase 2 648904-28-3

Interventional clinical trials:

(show top 50) (show all 145)
# 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 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
3 Autologous Punch Grafting in Vitiligo Patients: the Effect of Punchdepth and Punchsize Unknown status NCT01377077 Phase 4
4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Pilot Study Unknown status NCT01640678 Phase 4
5 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
6 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
7 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4 Botulinum toxin A
8 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Study on the Recipient Site Preparation Completed NCT02458417 Phase 4
9 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 Phase 4
10 Bimatoprost 0.03% Solution, NB-UVB and Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Not yet recruiting NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
11 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
12 Efficacy of Tacrolimus Ointment 0.1% Versus Placebo in Adults With Facial Non-segmental Vitiligo: a Randomized Double-blind Controlled Study Unknown status NCT02466997 Phase 3 tacrolimus;Placebo
13 Continuative vs Sequential Phototherapy in Non-segmental Vitiligo Patients Unknown status NCT00525395 Phase 3
14 Safety and Efficacy of Melanocyte-keratinocyte Transplantation in the Treatment of Vitiligo Completed NCT00830713 Phase 3
15 Comparative Study of 308nm Excimer Lamp and 308nm Excimer Laser in the Treatment of Vitiligo Completed NCT00696358 Phase 3
16 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
17 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
18 Autologous Transplantation of Melanocytes for Treatment of Vitiligo Skin Completed NCT00631865 Phase 3
19 Efficacy and Tolerance of Transplantation of Harvested Epidermal Cells and Narrow-Band UVB in Vitiligo Completed NCT01629979 Phase 2, Phase 3
20 Interest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo Completed NCT01087216 Phase 2, Phase 3 Bras B : The group control
21 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 Recruiting NCT04052425 Phase 3 Ruxolitinib cream;Vehicle
22 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 Recruiting NCT04057573 Phase 3 Ruxolitinib cream;Vehicle
23 Intralesional Candidal Antigen Versus Intralesional Zinc Sulphate in Treatment of Cutaneous Warts, A Randomized Clinical Trial Recruiting NCT03158168 Phase 3 Candida Antigen;Zinc Sulfate
24 Effectiveness of Microneedling and Topical Latanoprost in Treatment of Acrofacial Vitiligo Not yet recruiting NCT03611348 Phase 2, Phase 3 Latanoprost
25 Assessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo Terminated NCT02191748 Phase 2, Phase 3 Triamcinolone
26 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
27 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
28 Comparative Study of the Use of Trypsin Versus Dispase in Melanocyte-Keratinocyte Transplantation for the Treatment of Vitiligo Withdrawn NCT01822379 Phase 2, Phase 3
29 Treatment and Complication of Bath PUVA in Vitiligo Unknown status NCT00380471 Phase 2
30 Efficacy of Red Light in Vitiligo: A Prospective, Single-Blind Randomized Controlled Trial Unknown status NCT01787708 Phase 2
31 Efficacy and Safety of Intralesional Triamcinolone Acetonide in Vitiligo: A Prospective, Double-Blind Randomized Controlled Trial Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
32 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2
33 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
34 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
35 Efficacy and Safety of Pimecrolimus for the Treatment of Vitiligo Vulgaris Completed NCT00372307 Phase 2 Application of pimecrolimus
36 Pilot, Investigator-Initiated, Proof-of-Concept, Study of the Efficacy and Safety of Etanercept (Enbrel) in Adults With Vitiligo Completed NCT00134368 Phase 2 Etanercept
37 A Phase II Randomised Pilot Study to Compare the Efficacy and Safety of Subcutaneous, Bioresorbable Afamelanotide Implants and Narrow-Band Ultraviolet B (NB-UVB) Light in the Treatment of Nonsegmental Vitiligo Completed NCT01382589 Phase 2 Afamelanotide
38 A Phase-II, Randomized, Placebo-controlled Trial of Simvastatin in Generalized Vitiligo Completed NCT01517893 Phase 2 Simvastatin;Placebo
39 Open Label Phase 2 Proof-of-concept Pilot Trial of Topical Ruxolitinib in Repigmenting Adult Patients With Vitiligo Completed NCT02809976 Phase 2 Ruxolitinib 1.5% Phosphate Cream
40 Study of Applications of Autologous Epidermal Cells in Liquid Phase in the Treatment of Vitiligo Completed NCT01511965 Phase 1, Phase 2
41 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
42 Atorvastatin in Active Vitiligo: a Bicentric Prospective Randomized Trial Completed NCT02432534 Phase 2 Atorvastatin
43 A Split Body Study of the Effects of Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Completed NCT03123016 Phase 2 Apremilast
44 Repigmentation Using Apremilast and Phototherapy In Diffuse VITILIGO RAPID VITILIGO Completed NCT03036995 Phase 2 Apremilast
45 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 Recruiting NCT04103060 Phase 2 Cerdulatinib 0.37% gel;Vehicle gel
46 The Evaluation of Vitiligous Lesions Repigmentation After the Administration of Atorvastatin Calcium Salt and Simvastatin-acid Sodium Salt in Patients With Active Vitiligo (EVRAAS) Recruiting NCT03247400 Phase 1, Phase 2 1% simvastatin-acid sodium salt ointment;1% atorvastatin calcium salt ointment
47 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 Recruiting NCT03715829 Phase 2 PF-06651600;PF-06651600;PF-06651600;PF-06651600;PF-06651600;placebo;PF06700841
48 A Pilot Study to Investigate the Safety and Clinical Activity of Avelumab (MSB0010718C) in Thymoma and Thymic Carcinoma After Progression on Platinum-Based Chemotherapy Recruiting NCT03076554 Phase 2 Avelumab
49 A Phase II Study of Pembrolizumab and Bavituximab in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT03519997 Phase 2 Pembrolizumab;Bavituximab
50 A Randomized, Double-Blind, Dose-Ranging Study of INCB018424 Phosphate Cream in Subjects With Vitiligo Active, not recruiting 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
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

Genetic Tests for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

Anatomical Context for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

40
Skin, Thyroid, T Cells, Eye, Bone, Liver, Testes

Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

(show top 50) (show all 6689)
# Title Authors PMID Year
1
NALP1 in vitiligo-associated multiple autoimmune disease. 61 56 6
17377159 2007
2
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 54 61 56
20410501 2010
3
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 61 56
20526339 2010
4
Common variants in FOXP1 are associated with generalized vitiligo. 61 56
20526340 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. 61 56
14691733 2004
6
Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus. 61 56
11592035 2001
7
Genetic epidemiology of vitiligo: multilocus recessivity cross-validated. 61 56
7977362 1994
8
Pattern of familial aggregation of vitiligo. 61 56
8352624 1993
9
A genetical model for vitiligo. 61 56
3400640 1988
10
Unstable mutations in vitiligo, organ-specific autoimmune diseases, and multiple endocrine adenoma/peptic-ulcer syndrome. 61 56
6105440 1980
11
Vitiligo and dysgammaglobulinemia. A case report and family study. 61 56
163713 1975
12
Vitiligo. 61 56
13641799 1959
13
Single-nucleotide polymorphisms of APE1 associated with risk and prognosis of vitiligo in a Han Chinese population. 61 42
31430071 2019
14
Clinical differences between segmental nevus depigmentosus and segmental vitiligo. 61 42
31342527 2019
15
Leucine-rich glioma inactivated 3: a novel keratinocyte-derived melanogenic cytokine in vitiligo patients. 61 42
31644616 2019
16
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus. 56
15232734 2004
17
The role of VIT1/FBXO11 in the regulation of apoptosis and tyrosinase export from endoplasmic reticulum in cultured melanocytes. 54 61
20514423 2010
18
First histopathological and immunophenotypic analysis of early dynamic events in a patient with segmental vitiligo associated with halo nevi. 54 61
20370855 2010
19
Diet in dermatology: revisited. 54 61
20228538 2010
20
Oxidative stress level and tyrosinase activity in vitiligo patients. 54 61
20418970 2010
21
CTLA-4 A49G gene polymorphism is not associated with vitiligo in South Indian population. 54 61
20418973 2010
22
Circulatory levels of antioxidants and lipid peroxidation in Indian patients with generalized and localized vitiligo. 54 61
19488773 2009
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. 54 61
19416273 2009
24
Antioxidant enzymes and lipid peroxidation at the tissue level in patients with stable and active vitiligo. 54 61
19416376 2009
25
Mapping of melanin-concentrating hormone receptor 1 B cell epitopes predicts two major binding sites for vitiligo patient autoantibodies. 54 61
19320743 2009
26
Determination of oxidative stress in vitiligo by measuring superoxide dismutase and catalase levels in vitiliginous and non-vitiliginous skin. 54 61
19439879 2009
27
Absence of tyrosinase-related protein-2/dopachrome tautomerase transcripts in PBMCs from vitiligo patients. 54 61
19284502 2009
28
CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. 54 61
19175525 2009
29
Association between IL4 (-590), ACE (I)/(D), CCR5 (Delta32), CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo. 54 61
19129082 2009
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. 54 61
19101819 2009
31
Vaccine-specific local T cell reactivity in immunotherapy-associated vitiligo in melanoma patients. 54 61
18392619 2009
32
A double-blind, randomized trial of 0.05% betamethasone vs. topical catalase/dismutase superoxide in vitiligo. 54 61
18624857 2008
33
Expressional changes in the intracellular melanogenesis pathways and their possible role in the pathogenesis of vitiligo. 54 61
18514490 2008
34
Novel homozygous AIRE mutation in a German patient with severe APECED. 54 61
19209622 2008
35
Presence of epidermal allantoin further supports oxidative stress in vitiligo. 54 61
18328088 2008
36
The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. 54 61
18616774 2008
37
[Abnormal nuclear translocation of nuclear factor-E2 related factor 2 in the lesion of vitiligo]. 54 61
19087715 2008
38
Genetic association study of polymorphisms in the catalase gene with the risk of osteonecrosis of the femoral head in the Korean population. 54 61
18353692 2008
39
Lack of functionally active Melan-A(26-35)-specific T cells in the blood of HLA-A2+ vitiligo patients. 54 61
18337837 2008
40
PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. 54 61
18200060 2008
41
The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. 54 61
18426414 2008
42
Methionine sulfoxide reductases A and B are deactivated by hydrogen peroxide (H2O2) in the epidermis of patients with vitiligo. 54 61
17943184 2008
43
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? 54 61
18315617 2008
44
Vogt-Koyanagi-Harada disease and vitiligo: where does the illness begin? 54 61
18174263 2008
45
Gene expression analysis of melanocortin system in vitiligo. 54 61
17651944 2007
46
Vitiligo puzzle: the pieces fall in place. 54 61
17850508 2007
47
[Expression and purification of epitope peptide of human tyrosinase and its antigenicity in vitiligo patients]. 54 61
18036319 2007
48
Protein tyrosine phosphatase PTPN22 in human autoimmunity. 54 61
17729039 2007
49
Oxidative stress via hydrogen peroxide affects proopiomelanocortin peptides directly in the epidermis of patients with vitiligo. 54 61
16946714 2007
50
Vitiligo at the site of radiotherapy for nasopharyngeal carcinoma. 54 61
17645381 2007

Variations for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP1 NM_033004.4(NLRP1):c.464T>A (p.Leu155His)SNV risk factor 4163 rs12150220 17:5485367-5485367 17:5582047-5582047
2 KIF1B NM_015074.3(KIF1B):c.4387C>T (p.Arg1463Cys)SNV Uncertain significance 374063 rs757850683 1:10425479-10425479 1:10365421-10365421

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

Expression for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Search GEO for disease gene expression data for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1.

Pathways for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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

36
# 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
Show member pathways
12.57 TYRP1 TYR TPO POMC MITF KITLG
2 12.15 PTPN22 NLRP1 MLANA KITLG CTLA4 CD8A
3 11.4 PTPN22 CTLA4 CD8A
4 11.11 POMC MITF KITLG
5
Show member pathways
10.98 TYRP1 TYR TPO PAH DDC DCT
6 10.55 TYR DDC
7 9.83 TYRP1 TYR DCT

GO Terms for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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 plasma membrane GO:0005887 9.7 TPO PMEL MLANA MCHR1 CTLA4 CD8A
2 melanosome membrane GO:0033162 9.13 TYRP1 TYR DCT
3 melanosome GO:0042470 9.02 TYRP1 TYR PMEL MLANA 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 oxidation-reduction process GO:0055114 9.7 TYRP1 TYR TPO PCBD1 PAH DCT
2 embryonic hemopoiesis GO:0035162 9.4 TPO KITLG
3 L-phenylalanine catabolic process GO:0006559 9.37 PCBD1 PAH
4 catecholamine biosynthetic process GO:0042423 9.32 PAH DDC
5 melanin biosynthetic process from tyrosine GO:0006583 9.26 TYR DCT
6 pigmentation GO:0043473 9.26 TYRP1 TYR MITF DCT
7 melanin biosynthetic process GO:0042438 8.92 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 oxidoreductase activity GO:0016491 9.63 TYRP1 TYR TPO PAH DCT CAT
2 phenylalanine 4-monooxygenase activity GO:0004505 8.96 PCBD1 PAH
3 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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