Aliases & Classifications for Autoimmune Disease 1

MalaCards integrated aliases for Autoimmune Disease 1:

Name: Autoimmune Disease 1 57 75 29 6
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2 57 75
Autoimmune Disease, Susceptibility to, 1 57 13
Autoimmune Diseases 44 73
Vamas2 57 75
Ais1 57 75
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2; Vamas2 57
Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related 57
Autoimmune Disease Susceptibility Locus Chromosome 1p-Related 75
Vitiligo-Associated Multiple Autoimmune Disease Type 2 75
Autoimmune Disease, Susceptibility to, Type 1 40
Autoimmune Disease Susceptibility 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
early age at onset (13 years)


HPO:

32
autoimmune disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607836
MedGen 42 C1842979
MeSH 44 D001327
SNOMED-CT via HPO 69 263681008 21983002 56727007
UMLS 73 C0004364

Summaries for Autoimmune Disease 1

UniProtKB/Swiss-Prot : 75 Autoimmune disease 1: An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis).

MalaCards based summary : Autoimmune Disease 1, also known as vitiligo-associated multiple autoimmune disease susceptibility 2, is related to autoimmune disease and autoimmune disease, multisystem, with facial dysmorphism. An important gene associated with Autoimmune Disease 1 is FOXD3 (Forkhead Box D3). Affiliated tissues include t cells, thyroid and b cells, and related phenotypes are hashimoto thyroiditis and vitiligo

Description from OMIM: 607836

Related Diseases for Autoimmune Disease 1

Diseases related to Autoimmune Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune disease 12.4
2 autoimmune disease, multisystem, with facial dysmorphism 12.2
3 vitiligo-associated multiple autoimmune disease susceptibility 1 11.4
4 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0

Symptoms & Phenotypes for Autoimmune Disease 1

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
vitiligo, generalized
depigmentation, slowly progressive and diffuse

Endocrine Features:
hashimoto thyroiditis (some patients)


Clinical features from OMIM:

607836

Human phenotypes related to Autoimmune Disease 1:

32
# Description HPO Frequency HPO Source Accession
1 hashimoto thyroiditis 32 HP:0000872
2 vitiligo 32 HP:0001045

Drugs & Therapeutics for Autoimmune Disease 1

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease 1

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


Cochrane evidence based reviews: autoimmune diseases

Genetic Tests for Autoimmune Disease 1

Genetic tests related to Autoimmune Disease 1:

# Genetic test Affiliating Genes
1 Autoimmune Disease 1 29 FOXD3

Anatomical Context for Autoimmune Disease 1

MalaCards organs/tissues related to Autoimmune Disease 1:

41
T Cells, Thyroid, B Cells, Endothelial, Skin, Liver, Bone

Publications for Autoimmune Disease 1

Articles related to Autoimmune Disease 1:

(show top 50) (show all 1599)
# Title Authors Year
1
Association between interleukin 37 (rs3811047) polymorphism and multiple autoimmune diseases in a Chinese population: A PRISMA-compliant meta-analysis. ( 29642198 )
2018
2
Anti-microbial Antibodies, Host Immunity, and Autoimmune Disease. ( 29876352 )
2018
3
Regulatory T cells in autoimmune disease. ( 29925983 )
2018
4
Autoimmune Diseases in Patients With Cutaneous Lupus Erythematosus. ( 29801110 )
2018
5
Myasthenia gravis: the unmet needs of a paradigmatic autoimmune disease. ( 29943694 )
2018
6
A Cross-Sectional Study of the Association between Autoantibodies and Qualitative Ultrasound Index of Bone in an Elderly Sample without Clinical Autoimmune Disease. ( 29854851 )
2018
7
Autoimmune-Disease-Prone NOD Mice Help To Reveal a New Genetic Locus for Reducing Pulmonary Disease Caused by Mycoplasma pulmonis. ( 29263105 )
2018
8
TNF Receptor Type II as an Emerging Drug Target for the Treatment of Cancer, Autoimmune Diseases, and Graft-Versus-Host Disease: Current Perspectives and <i>In Silico</i> Search for Small Molecule Binders. ( 29967617 )
2018
9
Association of Stress-Related Disorders With Subsequent Autoimmune Disease. ( 29922828 )
2018
10
The risk of alopecia areata and other related autoimmune diseases in patients with sleep disorders: a Korean population-based retrospective cohort study. ( 29955877 )
2018
11
Concordance of autoimmune disease in a nationwide Danish systemic lupus erythematosus twin cohort. ( 28755788 )
2018
12
Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges. ( 29343274 )
2018
13
Autoimmune disease associated IFIH1 single nucleotide polymorphism related with IL-18 serum levels in Chinese systemic lupus erythematosus patients. ( 29930297 )
2018
14
Autoimmune disease: Targeting glucose transport in psoriasis. ( 29844603 )
2018
15
IL-6/STAT3 pathway induced deficiency of RFX1 contributes to Th17-dependent autoimmune diseases via epigenetic regulation. ( 29422534 )
2018
16
Autoimmune disease: Aryl hydrocarbon receptor suppresses inflammation. ( 29950706 )
2018
17
Lupus-like autoimmune disease caused by a lack of Xkr8, a caspase-dependent phospholipid scramblase. ( 29440417 )
2018
18
Chronic Paronychia and Onychomadesis in Pemphigus Vegetans: An Unusual Presentation in a Rare Autoimmune Disease. ( 29560011 )
2018
19
Pharmacokinetics and C-reactive protein modelling of anti-interleukin-6 antibody (PF-04236921) in healthy volunteers and patients with autoimmune disease. ( 29776017 )
2018
20
Autoimmune disease, familial clustering and thyroid carcinoma coexistent with autoimmune thyroiditis in children and adolescence: A cross-sectional study from the Czech Republic. ( 29936527 )
2018
21
Impact of Dietary Cholesterol on the Pathophysiology of Infectious and Autoimmune Disease. ( 29899295 )
2018
22
Molecular mimicry: An explanation for autoimmune diseases and infertility. ( 29935034 )
2018
23
How does autoimmune disease impact treatment and outcomes among patients with lung cancer? A national SEER-Medicare analysis. ( 29290269 )
2018
24
Plasma Cell Depletion Attenuates Hypertension in an Experimental Model of Autoimmune Disease. ( 29378858 )
2018
25
Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland. ( 29412344 )
2018
26
Systemic autoimmune diseases are associated with an increased risk of bipolar disorder: A nationwide population-based cohort study. ( 29049933 )
2018
27
Anorexia, coeliac and autoimmune disease. ( 29317440 )
2018
28
The influence of thyroid diseases, diabetes mellitus, primary hyperparathyroidism, vitamin B12 deficiency and other comorbid autoimmune diseases on treatment outcome in patients with rheumatoid arthritis: An exploratory cohort study. ( 29794789 )
2018
29
Engineered Sialylation of Pathogenic Antibodies InA Vivo Attenuates Autoimmune Disease. ( 29275858 )
2018
30
Epigenetic editing: How cutting-edge targeted epigenetic modification might provide novel avenues for autoimmune disease therapy. ( 29421443 )
2018
31
Use of Immune Checkpoint Inhibitors in the Treatment of Patients With Cancer and Preexisting Autoimmune Disease: A Systematic Review. ( 29297009 )
2018
32
Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions. ( 29341431 )
2018
33
An autoimmune disease-associated risk variant in the<i>TNFAIP3</i>gene plays a protective role in brucellosis that is mediated by the NF-kappa B signaling pathway. ( 29343543 )
2018
34
Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases. ( 29194620 )
2018
35
Atherosclerosis as autoimmune disease. ( 29955576 )
2018
36
Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease. ( 29959280 )
2018
37
Is there an association between dipeptidyl peptidase-4 inhibitors and autoimmune disease? A population-based study. ( 29855994 )
2018
38
Isotype-Switched Autoantibodies Are Necessary To Facilitate Central Nervous System Autoimmune Disease in <i>Aicda<sup>-/-</sup></i> and <i>Ung<sup>-/-</sup></i> Mice. ( 29980612 )
2018
39
Combination Therapy with Glucan and Coenzyme Q<sub>10</sub> in Murine Experimental Autoimmune Disease and Cancer. ( 29848676 )
2018
40
Clinical features and outcome of lymphoma patients with pre-existing autoimmune diseases. ( 29205866 )
2018
41
C-terminal truncation of IFN-I^ inhibits proinflammatory macrophage responses and is deficient in autoimmune disease. ( 29925830 )
2018
42
Approaches and advances in the genetic causes of autoimmune disease and their implications. ( 29925982 )
2018
43
Characterizing Autoimmune Disease-associated Diffuse Large B-cell Lymphoma in a SEER-Medicare Cohort. ( 29273217 )
2018
44
The Importance of Sex Stratification in Autoimmune Disease Biomarker Research: A Systematic Review. ( 29915581 )
2018
45
Hypoxia-inducible factor-1I+ is a critical transcription factor for IL-10-producing B cells in autoimmune disease. ( 29343683 )
2018
46
Biomimetic Nanosponges for Treating Antibody-Mediated Autoimmune Diseases. ( 29357234 )
2018
47
Remission of aggressive autoimmune disease (dermatomyositis) with removal of infective jaw pathology and ozone therapy: review and case report. ( 29959639 )
2018
48
The microbiota and autoimmunity: Their role in thyroid autoimmune diseases. ( 28689782 )
2017
49
Treatment with Rutin - A Therapeutic Strategy for Neutrophil-Mediated Inflammatory and Autoimmune Diseases: - Anti-inflammatory Effects of Rutin on Neutrophils. ( 28392963 )
2017
50
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. ( 28586827 )
2017

Variations for Autoimmune Disease 1

ClinVar genetic disease variations for Autoimmune Disease 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXD3 FOXD3, -639G-T single nucleotide variant risk factor

Expression for Autoimmune Disease 1

Search GEO for disease gene expression data for Autoimmune Disease 1.

Pathways for Autoimmune Disease 1

GO Terms for Autoimmune Disease 1

Sources for Autoimmune Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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