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MCID: VTL004
MIFTS: 52

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Categories: Genetic diseases, Rare diseases, Skin diseases, Immune diseases
Genes Variations Tissues Related diseases 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
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 156437000 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 pigmentation disorder in which melanocytes (the cells that make pigment) in the skin are destroyed. As a result, white patches appear on the skin in different parts of the body, and sometimes also on both the mucous membranes and the retina. The average age of onset is in the mid-20s. It is generally considered to be an autoimmune disorder, and about 20-25 percent of people with vitiligo also have at least one other autoimmune disorder. In the absence of other conditions, vitiligo does not affect general health; however, concerns about appearance and ethnic identity are significant issues for many affected individuals. The exact cause of vitiligo is not known, but there are several different theories. There is strong evidence that people with vitiligo inherit a group of genes that make them susceptible to depigmentation. The main goal of treating vitiligo is to improve appearance; current treatment options include medication, surgery, and adjunctive therapies (used along with surgical or medical treatments).

MalaCards based summary : Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1, also known as vitiligo, is related to vitiligo-associated multiple autoimmune disease susceptibility 6 and albinism, ocular, with sensorineural deafness, and has symptoms including exanthema and pruritus. 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 Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and retina, and related phenotypes are vitiligo and homeostasis/metabolism

Disease Ontology : 12 A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.

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.

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...

Sources

Related Diseases for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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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 58)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 6 11.4
2 albinism, ocular, with sensorineural deafness 10.7 MITF TYR
3 malignant spindle cell melanoma 10.6 MITF PMEL TYR
4 tietz albinism-deafness syndrome 10.6 MITF TYR
5 type 1 diabetes mellitus 17 10.6 AIRE CTLA4
6 amelanotic melanoma 10.6 CAT TYR TYRP1
7 dyschromatosis symmetrica hereditaria 10.5 MITF TYR TYRP1
8 ocular albinism 10.5 MITF TYR TYRP1
9 anterior uveitis 10.5 CTLA4 PTPN22
10 waardenburg syndrome, type 2e 10.5 KITLG MITF
11 congenital rubella 10.5 CAT TPO
12 primary biliary cholangitis 10.5 CTLA4 PTPN22
13 albinism 10.5 MITF TYR TYRP1
14 hermansky-pudlak syndrome 3 10.4 MITF PMEL TYR TYRP1
15 lentigo maligna melanoma 10.3 MITF MLANA
16 alopecia areata 10.3 AIRE CTLA4 PTPN22
17 halo nevi 10.3 MLANA PMEL TYR
18 melanotic neurilemmoma 10.3 MLANA PMEL TYR
19 diffuse meningeal melanocytosis 10.3 MLANA PMEL TYR
20 melanoacanthoma 10.3 MLANA PMEL TYR
21 gallbladder melanoma 10.3 MITF MLANA PMEL
22 pigmented basal cell carcinoma 10.3 MITF MLANA TYR
23 central nervous system melanocytic neoplasm 10.3 MLANA PMEL TYR
24 epithelioid cell melanoma 10.3 MITF MLANA TYR
25 breast angiosarcoma 10.3 MITF MLANA TYR
26 autoimmune addison disease 10.2 AIRE CTLA4 NLRP1 PTPN22
27 melanocytic nevus syndrome, congenital 10.2 KITLG TYR
28 adrenal cortical hypofunction 10.2 AIRE POMC PTPN22
29 integumentary system cancer 10.2 MITF MLANA TYR
30 hypersensitivity reaction disease 10.2 AIRE CTLA4 TPO
31 thyroiditis 10.2 CTLA4 PTPN22 TPO
32 vogt-koyanagi-harada disease 10.2 NLRP1 PMEL PTPN22 TYR TYRP1
33 waardenburg's syndrome 10.1 KITLG MITF TYR TYRP1
34 malignant skin fibrous histiocytoma 10.1 CTLA4 MLANA TYR
35 malignant dermis tumor 10.1 CTLA4 MLANA TYR
36 myxedema 10.1 CTLA4 TPO
37 cutaneous solitary mastocytoma 10.1 KITLG POMC
38 pernicious anemia 10.0 AIRE TPO
39 celiac disease 1 10.0 CTLA4 PTPN22 TPO
40 autoimmune disease of endocrine system 10.0 AIRE CTLA4 PTPN22 TPO
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 AIRE CTLA4 PTPN22 TPO
42 melanoma, uveal 10.0 MITF MLANA PMEL TYR
43 hypothyroidism, congenital, nongoitrous, 4 10.0 POMC TPO
44 systemic lupus erythematosus 9.9
45 lupus erythematosus 9.9
46 hyperphenylalaninemia 9.9 CAT GCH1 PCBD1
47 hashimoto thyroiditis 9.9 AIRE CTLA4 PTPN22 TPO
48 graves' disease 9.9 AIRE CTLA4 PTPN22 TPO
49 oculogyric crisis 9.9 DDC GCH1
50 diabetes mellitus, insulin-dependent 9.8 AIRE CTLA4 PTPN22 TPO

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:


exanthema, pruritus

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

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 MITF NLRP1 PCBD1 PMEL POMC PTPN22
2 hematopoietic system MP:0005397 10.22 FGF2 KITLG MITF NLRP1 PMEL POMC
3 cardiovascular system MP:0005385 10.18 POMC PTPN22 TYR CTLA4 DDC FGF2
4 mortality/aging MP:0010768 10.18 TYR TYRP1 AIRE CAT CTLA4 DDC
5 immune system MP:0005387 10.13 AIRE CTLA4 DDC KITLG MITF NLRP1
6 endocrine/exocrine gland MP:0005379 10.11 AIRE CTLA4 KITLG MITF POMC PTPN22
7 integument MP:0010771 10.06 CTLA4 KITLG MITF MLANA PCBD1 PMEL
8 hearing/vestibular/ear MP:0005377 9.97 FGF2 KITLG MITF TPO TYR TYRP1
9 nervous system MP:0003631 9.96 AIRE DDC FGF2 GCH1 KITLG MCHR1
10 neoplasm MP:0002006 9.87 AIRE CAT FGF2 KITLG POMC TYR
11 pigmentation MP:0001186 9.81 CTLA4 KITLG MITF MLANA PCBD1 PMEL
12 skeleton MP:0005390 9.56 CTLA4 TYR TYRP1 FGF2 KITLG MCHR1
13 vision/eye MP:0005391 9.32 AIRE DDC FGF2 KITLG MITF PCBD1
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 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pimecrolimus Approved, Investigational Phase 4,Phase 2 137071-32-0 6447131 17753757
2
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 445643 439492
3
Fluticasone Approved, Experimental, Investigational Phase 4,Not Applicable 90566-53-3 62924
4
Acetylcholine Approved Phase 4 51-84-3 187
5
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
6
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
7
Insulin glulisine Approved Phase 4 207748-29-6
8
Zinc Approved, Investigational Phase 4 7440-66-6 23994
9
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
10 Analgesics Phase 4,Phase 2
11 Analgesics, Non-Narcotic Phase 4,Phase 2
12 Anti-Allergic Agents Phase 4,Not Applicable
13 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
15 Antirheumatic Agents Phase 4,Phase 2,Phase 1
16 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Dermatologic Agents Phase 4,Phase 2,Phase 1,Not Applicable
18 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 mometasone furoate Phase 4
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Anti-Asthmatic Agents Phase 4,Not Applicable
22 Autonomic Agents Phase 4,Not Applicable
23 Bronchodilator Agents Phase 4,Not Applicable
24 Respiratory System Agents Phase 4,Not Applicable
25 Amotosalen Phase 4,Phase 2
26 Ficusin Phase 4,Phase 2
27 Furocoumarins Phase 4,Phase 2
28 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
29 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Protective Agents Phase 4,Phase 3,Not Applicable
33 abobotulinumtoxinA Phase 4
34 Botulinum Toxins Phase 4
35 Botulinum Toxins, Type A Phase 4
36 Cholinergic Agents Phase 4
37 Neuromuscular Agents Phase 4
38 Neurotransmitter Agents Phase 4
39 onabotulinumtoxinA Phase 4
40 Pharmaceutical Solutions Phase 4,Phase 2,Not Applicable
41 Antioxidants Phase 4
42 Keratolytic Agents Phase 4
43 Radiation-Protective Agents Phase 4,Not Applicable
44 Hylan Phase 4
45 Hypoglycemic Agents Phase 4
46 insulin Phase 4
47 Insulin, Globin Zinc Phase 4
48
Hyaluronic acid Approved, Vet_approved Phase 3,Not Applicable 9004-61-9 53477741
49
Triamcinolone Approved, Vet_approved Phase 2, Phase 3,Not Applicable 124-94-7 31307
50
Lidocaine Approved, Vet_approved Phase 3,Not Applicable 137-58-6 3676

Interventional clinical trials:

(show top 50) (show all 118)
# 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 NB-UVB and PUVA Vitiligo Study 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 Completed NCT02458417 Phase 4
9 Assessment of Atrophogenic Potential of Triple Combination Cream for Treatment of Melasma Completed NCT00469183 Phase 4 Fluocinolone acetonide .1%, hydroquinone 4%, tretinoin .05%
10 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
11 Post Market Safety Study and Effectiveness With Evolence in Subjects With Skin Color Types IV-VI Completed NCT00891774 Phase 4
12 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 Phase 4
13 Beneficial Effect of Insulin Glulisine by Lipoatrophy and Type 1 Diabetes (LAS) Enrolling by invitation NCT02914886 Phase 4 Apidra;current insulin
14 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
15 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
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 Vitiligo Skin Transplantation Completed NCT00830713 Phase 3
20 Epidermal Cell Transplantation in Vitiligo Skin Completed NCT01629979 Phase 2, Phase 3
21 Excimer Lamp Versus Excimer Laser in Vitiligo Treatment Completed NCT00696358 Phase 3
22 Vitiligo Treated With TL01 Combined With Tacrolimus Ointment Versus Placebo Completed NCT00807690 Phase 3 Tacrolimus ointment
23 Autologous Transplantation of Melanocytes for Treatment of Vitiligo Skin Completed NCT00631865 Phase 3
24 Interest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo Completed NCT01087216 Phase 2, Phase 3 Bras B : The group control
25 Emervel Deep Lidocaine vs. Juvederm® Ultra Plus in Treatment of Moderate to Severe Facial Wrinkles and Folds Completed NCT01205061 Phase 3
26 Study to Evaluate Immunogenicity of the Hepatitis B Antigen of the GSK Biologicals' Candidate Malaria Vaccine (257049) Completed NCT01345240 Phase 3
27 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]
28 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
29 Assessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo Terminated NCT02191748 Phase 2, Phase 3 Triamcinolone
30 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
31 Efficacy and Safety of ACH24 in the Treatment of Vitiligo Withdrawn NCT01419964 Phase 3 Group 01;Group 02
32 Comparative Study of Techniques in Melanocyte-Keratinocyte Transplantation for the Treatment of Vitiligo Withdrawn NCT01822379 Phase 2, Phase 3
33 Efficacy and Safety of Intralesional Corticosterois in the Treatment of Vitiligo Unknown status NCT01766609 Phase 2 Triamcinolone Acetonide
34 Efficacy of Red Light in Vitiligo Unknown status NCT01787708 Phase 2
35 UVA 1 Phototherapy for Vitiligo Unknown status NCT01787695 Phase 2
36 Treatment and Complication of Bath PUVA in Vitiligo Unknown status NCT00380471 Phase 2
37 Topical Psoralen Ultraviolet Light A Versus Narrow Band Ultraviolet Light B Treatment for Recalcitrant Dermatoses of the Hand Unknown status NCT01792245 Phase 2
38 Atorvastatin in Active Vitiligo Completed NCT02432534 Phase 2 Atorvastatin
39 Topical Ruxolitinib for the Treatment of Vitiligo Completed NCT02809976 Phase 2 Ruxolitinib 1.5% Phosphate Cream
40 Clinical Trial of Simvastatin to Treat Generalized Vitiligo Completed NCT01517893 Phase 2 Simvastatin;Placebo
41 Melanocyte Transplantation for Patients With Stable Vitiligo. Completed NCT01701648 Phase 1, Phase 2
42 Afamelanotide and Narrow-Band Ultraviolet B (NB-UVB) Light in the Treatment of Nonsegmental Vitiligo Completed NCT01382589 Phase 2 Afamelanotide
43 Study of Applications of Autologous Epidermal Cells in Liquid Phase in the Treatment of Vitiligo Completed NCT01511965 Phase 1, Phase 2
44 Study of the Efficacy and Safety of Etanercept in Adults With Vitiligo Completed NCT00134368 Phase 2 Etanercept
45 Efficacy and Safety of Pimecrolimus for the Treatment of Vitiligo Vulgaris Completed NCT00372307 Phase 2 Application of pimecrolimus
46 Trial for the Evaluation of the Effect of Systemic Low-dose Interleukin-2 (IL-2) on the Immunogenicity of a Vaccine Comprising Synthetic Melanoma Peptides Administered With Granulocyte-macrophage Colony-stimulating Factor (GM-CSF)-In-Adjuvant, in Patients Completed NCT00928902 Phase 2 low-dose IL-2
47 Evaluate Safety & Immunogenicity of a Pandemic Influenza Vaccine (GSK1562902A) in Children Completed NCT00502593 Phase 2
48 A Study of INCB018424 Phosphate Cream in Subjects With Vitiligo Recruiting NCT03099304 Phase 2 INCB018424 cream;Vehicle cream
49 Effectivness of Topical Tacrolimus Monotherapy in Patients With Vitiligo Recruiting NCT03358082 Phase 1, Phase 2 Tacrolimus 0.03% Ointment;Hydrocortisone Acetate 1% Ointment
50 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Recruiting NCT03123016 Phase 2 Apremilast

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
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 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, Retina, Eye, Bone, Liver
Sources

Publications for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

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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 KIF1B NM_015074.3(KIF1B): c.4387C> T (p.Arg1463Cys) single nucleotide variant Uncertain significance rs757850683 GRCh37 Chromosome 1, 10425479: 10425479
4 KIF1B NM_015074.3(KIF1B): c.4387C> T (p.Arg1463Cys) single nucleotide variant Uncertain significance rs757850683 GRCh38 Chromosome 1, 10365421: 10365421
5 NLRP1 NM_033004.3(NLRP1): c.4313G> A (p.Arg1438Gln) single nucleotide variant Uncertain significance rs201167590 GRCh37 Chromosome 17, 5418183: 5418183
6 NLRP1 NM_033004.3(NLRP1): c.4313G> A (p.Arg1438Gln) single nucleotide variant Uncertain significance rs201167590 GRCh38 Chromosome 17, 5514863: 5514863
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 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
Aldosterone synthesis and secretion 37
Show member pathways
 12.71 KITLG MITF POMC TPO TYR TYRP1
2
NF-kappaB Signaling 4
11.87 CTLA4 KITLG MLANA NLRP1 PTPN22
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.73 FGF2 KITLG MITF
4
Differentiation Pathway 1
11.11 FGF2 KITLG TPO
5
Melanocyte Development and Pigmentation 64
10.94 KITLG MITF POMC
6
Tyrosine metabolism 37
Show member pathways
 10.81 DDC TPO TYR TYRP1
7
Dopamine metabolism 1
10.55 DDC TYR
8
Melanin biosynthesis 66
10.02 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 melanosome membrane GO:0033162 8.96 TYR TYRP1
2 melanosome GO:0042470 8.92 MLANA PMEL 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 oxidation-reduction process GO:0055114 9.85 CAT PCBD1 TPO TYR TYRP1
2 melanosome organization GO:0032438 9.43 PMEL TYRP1
3 hydrogen peroxide catabolic process GO:0042744 9.4 CAT TPO
4 melanocyte differentiation GO:0030318 9.37 MITF TYRP1
5 embryonic hemopoiesis GO:0035162 9.32 KITLG TPO
6 dopamine biosynthetic process GO:0042416 9.26 DDC GCH1
7 tetrahydrobiopterin biosynthetic process GO:0006729 9.16 GCH1 PCBD1
8 pigmentation GO:0043473 9.13 MITF TYR TYRP1
9 melanin biosynthetic process GO:0042438 8.8 PMEL TYR TYRP1

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 peroxidase activity GO:0004601 8.62 CAT TPO
Sources

Sources for Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

About this section
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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