AIS1
MCID: ATM052
MIFTS: 46

Autoimmune Disease 1 (AIS1)

Categories: Genetic diseases

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:

(show top 50) (show all 555)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 12.6
2 autoimmune disease, multisystem, with facial dysmorphism 12.4
3 autoimmune disease 6 12.3
4 autoimmune disease, multisystem, infantile-onset, 1 12.2
5 autoimmune disease, multisystem, infantile-onset, 2 12.2
6 autoimmune disease of the nervous system 12.2
7 autoimmune disease of peripheral nervous system 12.2
8 autoimmune disease 2 12.1
9 autoimmune disease 3 12.1
10 autoimmune disease 4 12.1
11 autoimmune disease of central nervous system 12.0
12 autoimmune disease of endocrine system 12.0
13 autoimmune disease of eyes, ear, nose and throat 12.0
14 autoimmune disease of gastrointestinal tract 12.0
15 autoimmune disease of musculoskeletal system 12.0
16 autoimmune disease of skin and connective tissue 12.0
17 autoimmune disease of urogenital tract 12.0
18 autoimmune disease of blood 12.0
19 autoimmune disease of cardiovascular system 12.0
20 autoimmune disease of exocrine system 11.9
21 sjogren's syndrome, juvenile, secondary to autoimmune disease 11.9
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 11.6
23 itch e3 ubiquitin ligase deficiency 11.6
24 vitiligo-associated multiple autoimmune disease susceptibility 1 11.6
25 lupus erythematosus 11.3
26 hashimoto thyroiditis 11.3
27 celiac disease 1 11.3
28 sjogren syndrome 11.3
29 multiple sclerosis 11.3
30 systemic lupus erythematosus 11.3
31 rheumatoid arthritis 11.3
32 stiff-person syndrome 11.3
33 undifferentiated connective tissue disease 11.3
34 igg4-related disease 11.2
35 pemphigus 11.2
36 primary biliary cholangitis 11.2
37 neuromyelitis optica 11.2
38 graves' disease 11.2
39 premature ovarian failure 1 11.2
40 autoimmune hepatitis 11.2
41 mixed connective tissue disease 11.2
42 perrault syndrome 1 11.1
43 diabetes mellitus 11.1
44 psoriasis 11.1
45 myasthenia gravis 11.1
46 scleroderma, familial progressive 11.1
47 primary biliary cirrhosis 11.1
48 alopecia areata 11.1
49 dermatomyositis 11.1
50 celiac disease 6 11.1

Graphical network of the top 20 diseases related to Autoimmune Disease 1:



Diseases related to Autoimmune Disease 1

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, Bone, Breast, Neutrophil, Liver

Publications for Autoimmune Disease 1

Articles related to Autoimmune Disease 1:

(show top 50) (show all 1703)
# Title Authors Year
1
The pathogenesis of thyroid autoimmune diseases: New T lymphocytes - Cytokines circuits beyond the Th1-Th2 paradigm. ( 30246383 )
2019
2
Immunomodulatory effects of probiotics: Can they be used to treat allergies and autoimmune diseases? ( 30502748 )
2019
3
Association between interleukin 37 (rs3811047) polymorphism and multiple autoimmune diseases in a Chinese population: A PRISMA-compliant meta-analysis. ( 29642198 )
2018
4
Autoimmune Diseases in Patients With Cutaneous Lupus Erythematosus. ( 29801110 )
2018
5
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
6
The risk of alopecia areata and other related autoimmune diseases in patients with sleep disorders: a Korean population-based retrospective cohort study. ( 29955877 )
2018
7
IL-6/STAT3 pathway induced deficiency of RFX1 contributes to Th17-dependent autoimmune diseases via epigenetic regulation. ( 29422534 )
2018
8
Molecular mimicry: An explanation for autoimmune diseases and infertility. ( 29935034 )
2018
9
Chagas disease and systemic autoimmune diseases among Bolivian patients in Switzerland. ( 29412344 )
2018
10
Systemic autoimmune diseases are associated with an increased risk of bipolar disorder: A nationwide population-based cohort study. ( 29049933 )
2018
11
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
12
Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases. ( 29194620 )
2018
13
Clinical features and outcome of lymphoma patients with pre-existing autoimmune diseases. ( 29205866 )
2018
14
Familial association of attention-deficit hyperactivity disorder with autoimmune diseases in the population of Sweden. ( 30407269 )
2018
15
Correction to: Associations between attention-deficit/hyperactivity disorder and autoimmune diseases are modified by sex: a population-based cross-sectional study. ( 29196875 )
2018
16
Associations between attention-deficit/hyperactivity disorder and autoimmune diseases are modified by sex: a population-based cross-sectional study. ( 28983730 )
2018
17
Extrahepatic autoimmune diseases in patients with autoimmune hepatitis and their relatives: A Danish nationwide cohort study. ( 30218621 )
2018
18
Nonuremic Calciphylaxis: Four Cases Associated with Autoimmune Diseases. ( 30207525 )
2018
19
Primary biliary cholangitis and its association with other autoimmune diseases in a Mexican cohort. ( 30541671 )
2018
20
Cigarette smoking associates inversely with a cluster of two autoimmune diseases: ulcerative colitis and pemphigus. ( 30112667 )
2018
21
Immune Reconstitution After Autologous Hematopoietic Stem Cell Transplantation in Crohn's Disease: Current Status and Future Directions. A Review on Behalf of the EBMT Autoimmune Diseases Working Party and the Autologous Stem Cell Transplantation In Refractory CD-Low Intensity Therapy Evaluation Study Investigators. ( 29670622 )
2018
22
A patient presenting with isolated hematuria and renal dysfunction as rare manifestation of cryoglobulinemic glomerulonephritis in the course of autoimmune diseases including Sjögren's syndrome. ( 29671215 )
2018
23
Autologous Hematopoietic Stem Cell Transplantation for Autoimmune Diseases: From Mechanistic Insights to Biomarkers. ( 30505303 )
2018
24
Hematopoietic stem cell transplantation for autoimmune diseases: more than just prolonged immunosuppression. ( 30157069 )
2018
25
Resetting the T Cell Compartment in Autoimmune Diseases With Autologous Hematopoietic Stem Cell Transplantation: An Update. ( 29731752 )
2018
26
Autoimmune diseases after hepatitis B immunization in adults: Literature review and meta-analysis, with reference to 'autoimmune/autoinflammatory syndrome induced by adjuvants' (ASIA). ( 30100071 )
2018
27
HIGH-DOSE GLUCOCORTICOID TREATMENT DOES NOT INDUCE SEVERE HYPERGLYCEMIA IN YOUNG PATIENTS WITH AUTOIMMUNE DISEASES BY CGMS. ( 29106815 )
2018
28
Can we treat systemic lupus erythematosus and other autoimmune diseases without oral steroids? ( 30328733 )
2018
29
STAT4 gene polymorphism in two major autoimmune diseases (multiple sclerosis and juvenile onset systemic lupus erythematosus) and its relation to disease severity. ( 29881250 )
2018
30
Brief Report: Risk of Childhood Rheumatic and Nonrheumatic Autoimmune Diseases in Children Born to Women With Systemic Lupus Erythematosus. ( 29790298 )
2018
31
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition. ( 30102396 )
2018
32
Autoimmune diseases in myelodysplastic syndrome favors patients survival: A case control study and literature review. ( 30408583 )
2018
33
Autoimmune diseases associated with Neuromyelitis Optica Spectrum Disorders: A literature review. ( 30476871 )
2018
34
Systemic autoimmune diseases are associated with an increased risk of obsessive-compulsive disorder: a nationwide population-based cohort study. ( 30406283 )
2018
35
A total-population multigenerational family clustering study of autoimmune diseases in obsessive-compulsive disorder and Tourette's/chronic tic disorders. ( 29133949 )
2018
36
Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case-control approaches. ( 30229903 )
2018
37
Pleuroparenchymal fibroelastosis as a histological background of autoimmune diseases. ( 30327882 )
2018
38
Postpartum Depression and Subsequent Autoimmune Diseases in Taiwan. ( 30127260 )
2018
39
Neutrophilic Dermatoses in Autoimmune Diseases: Report of Two Cases Associated with Autoimmune Thyroiditis. ( 29594105 )
2018
40
Prevalence of overlap of antineutrophil cytoplasmic antibody associated vasculitis with systemic autoimmune diseases: an unrecognized example of poliautoimmunity. ( 30006919 )
2018
41
Inflammation and atherosclerosis: Cardiovascular evaluation in patients with autoimmune diseases. ( 29730525 )
2018
42
Plantago squarrosa Murray extracts inhibit the growth of some bacterial triggers of autoimmune diseases: GC-MS analysis of an inhibitory extract. ( 30446926 )
2018
43
Late-onset biopsy-proven lupus nephritis without other associated autoimmune diseases: severity and long-term outcome. ( 30442061 )
2018
44
Migraine in Systemic Autoimmune Diseases. ( 29173190 )
2018
45
Sarcoidosis and autoimmune diseases: differences, similarities and overlaps. ( 29985181 )
2018
46
Effects of co-existing autoimmune diseases on serum lipids and lipoprotein subclasses profile in paediatric patients with type 1 diabetes mellitus. ( 29410325 )
2018
47
Endoplasmic reticulum stress in autoimmune diseases: Can altered protein quality control and/or unfolded protein response contribute to autoimmunity? A critical review on Sjögren's syndrome. ( 29890347 )
2018
48
Elevated total serum IgE in vitiligo might be protective for other autoimmune diseases. ( 29704453 )
2018
49
Screening for Latent Tuberculosis Infection in Patients with Autoimmune Diseases Before Initiating TNF-α Inhibitors Therapy. ( 30429686 )
2018
50
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. ( 29720879 )
2018

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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