AIS1
MCID: ATM052
MIFTS: 40

Autoimmune Disease 1 (AIS1)

Categories: Genetic diseases

Aliases & Classifications for Autoimmune Disease 1

MalaCards integrated aliases for Autoimmune Disease 1:

Name: Autoimmune Disease 1 58 76 30 6
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2 58 76
Autoimmune Disease, Susceptibility to, 1 58 13
Autoimmune Diseases 45 74
Vamas2 58 76
Ais1 58 76
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2; Vamas2 58
Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related 58
Autoimmune Disease Susceptibility Locus Chromosome 1p-Related 76
Vitiligo-Associated Multiple Autoimmune Disease Type 2 76
Autoimmune Disease, Susceptibility to, Type 1 41
Autoimmune Disease Susceptibility 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
early age at onset (13 years)


HPO:

33
autoimmune disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607836
MeSH 45 D001327
MedGen 43 C1842979
SNOMED-CT via HPO 70 21983002 263681008 56727007
UMLS 74 C0004364

Summaries for Autoimmune Disease 1

UniProtKB/Swiss-Prot : 76 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 644)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 12.6
2 autoimmune disease, multisystem, with facial dysmorphism 12.4
3 autoimmune disease, multisystem, infantile-onset, 1 12.4
4 autoimmune disease 6 12.4
5 autoimmune disease, multisystem, infantile-onset, 2 12.3
6 autoimmune disease of peripheral nervous system 12.2
7 autoimmune disease 2 12.1
8 autoimmune disease 3 12.1
9 autoimmune disease 4 12.1
10 autoimmune disease of central nervous system 12.0
11 autoimmune disease of endocrine system 12.0
12 autoimmune disease of eyes, ear, nose and throat 12.0
13 autoimmune disease of gastrointestinal tract 12.0
14 autoimmune disease of musculoskeletal system 12.0
15 autoimmune disease of skin and connective tissue 12.0
16 autoimmune disease of urogenital tract 12.0
17 autoimmune disease of blood 12.0
18 autoimmune disease of cardiovascular system 12.0
19 autoimmune disease of exocrine system 12.0
20 sjogren's syndrome, juvenile, secondary to autoimmune disease 12.0
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 11.8
22 itch e3 ubiquitin ligase deficiency 11.7
23 vitiligo-associated multiple autoimmune disease susceptibility 1 11.6
24 lupus erythematosus 11.4
25 hashimoto thyroiditis 11.4
26 sjogren syndrome 11.4
27 multiple sclerosis 11.3
28 celiac disease 1 11.3
29 systemic lupus erythematosus 11.3
30 rheumatoid arthritis 11.3
31 neuromyelitis optica 11.3
32 undifferentiated connective tissue disease 11.3
33 stiff-person syndrome 11.3
34 igg4-related disease 11.3
35 pemphigus 11.3
36 primary biliary cholangitis 11.3
37 graves' disease 11.2
38 autoimmune hepatitis 11.2
39 premature ovarian failure 1 11.2
40 mixed connective tissue disease 11.2
41 diabetes mellitus 11.2
42 cone-rod dystrophy and hearing loss 2 11.2
43 myasthenia gravis 11.2
44 scleroderma, familial progressive 11.2
45 psoriasis 11.2
46 primary biliary cirrhosis 11.1
47 alopecia areata 11.1
48 allergic encephalomyelitis 11.1
49 pemphigus vulgaris, familial 11.1
50 pemphigus vulgaris 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

Human phenotypes related to Autoimmune Disease 1:

33
# Description HPO Frequency HPO Source Accession
1 hashimoto thyroiditis 33 HP:0000872
2 vitiligo 33 HP:0001045

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
vitiligo, generalized
depigmentation, slowly progressive and diffuse

Endocrine Features:
hashimoto thyroiditis (some patients)

Clinical features from OMIM:

607836

Drugs & Therapeutics for Autoimmune Disease 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Remote Ischemic Conditioning Paired With Endovascular Treatment for Acute Ischemic Stroke (REVISE-1) Completed NCT03210051 Phase 1

Search NIH Clinical Center for Autoimmune Disease 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 FOXD3

Anatomical Context for Autoimmune Disease 1

MalaCards organs/tissues related to Autoimmune Disease 1:

42
T Cells, Thyroid, B Cells, Skin, Bone, Liver, Heart

Publications for Autoimmune Disease 1

Articles related to Autoimmune Disease 1:

(show top 50) (show all 3216)
# Title Authors Year
1
B Cell Dysfunction Associated With Aging and Autoimmune Diseases. ( 30873171 )
2019
2
Experience of biological therapy units in rheumatoid arthritis and other autoimmune diseases. ( 30709786 )
2019
3
Familial association of attention-deficit hyperactivity disorder with autoimmune diseases in the population of Sweden. ( 30407269 )
2019
4
Proband and Familial Autoimmune Diseases Are Associated With Proband Diagnosis of Autism Spectrum Disorders. ( 30975444 )
2019
5
Editorial: Autism Spectrum Disorder and Autoimmune Diseases: A Pathway in Common? ( 30902666 )
2019
6
Extrahepatic autoimmune diseases in patients with autoimmune hepatitis and their relatives: A Danish nationwide cohort study. ( 30218621 )
2019
7
The association between infection incidence and autoimmune diseases in breast cancer patients after anti-cancer treatment. ( 30854088 )
2019
8
Enhancement of cancer invasion and growth via the C5a-C5a receptor system: Implications for cancer promotion by autoimmune diseases and association with cervical cancer invasion. ( 30655847 )
2019
9
Low percentages of regulatory T cells in common variable immunodeficiency (CVID) patients with autoimmune diseases and its association with increased numbers of CD4+CD45RO+ T and CD21low B cells. ( 31103252 )
2019
10
Population based study: atopy and autoimmune diseases are associated with functional dyspepsia and irritable bowel syndrome, independent of psychological distress. ( 30687959 )
2019
11
Evidence for an association between endometriosis, fibromyalgia, and autoimmune diseases. ( 30682223 )
2019
12
Autoimmune Diseases and Gastric Cancer Risk: A Systematic Review and Meta-Analysis. ( 31048663 )
2019
13
The association of other autoimmune diseases in patients with Graves' disease (with or without ophthalmopathy): Review of the literature and report of a large series. ( 30639646 )
2019
14
Systemic autoimmune diseases complicated with hydrocephalus: pathogenesis and management. ( 29130124 )
2019
15
Therapeutic Plasma Exchange as Management of Complicated Systemic Lupus Erythematosus and Other Autoimmune Diseases. ( 30984421 )
2019
16
Autoimmune diseases in myelodysplastic syndrome favors patients survival: A case control study and literature review. ( 30408583 )
2019
17
Systemic autoimmune diseases are associated with an increased risk of obsessive-compulsive disorder: a nationwide population-based cohort study. ( 30406283 )
2019
18
Pancreatic cancer and autoimmune diseases: An association sustained by computational and epidemiological case-control approaches. ( 30229903 )
2019
19
Pleuroparenchymal fibroelastosis as a histological background of autoimmune diseases. ( 30327882 )
2019
20
Pneumocystis jirovecii pneumonia prophylaxis in immunocompromised patients with systemic autoimmune diseases. ( 30853123 )
2019
21
Prognostic factors of Pneumocystis pneumonia in patients with systemic autoimmune diseases. ( 30908547 )
2019
22
Androgen deprivation therapy for prostate cancer and the risk of autoimmune diseases. ( 30692587 )
2019
23
Familial Aggregation of Psoriasis and Co-Aggregation of Autoimmune Diseases in Affected Families. ( 30669308 )
2019
24
An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome. ( 31075085 )
2019
25
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases. ( 30614601 )
2019
26
Prevalence of overlap of antineutrophil cytoplasmic antibody associated vasculitis with systemic autoimmune diseases: an unrecognized example of poliautoimmunity. ( 30006919 )
2019
27
Aberrant Expressions of Co-stimulatory and Co-inhibitory Molecules in Autoimmune Diseases. ( 30842773 )
2019
28
Plantago squarrosa Murray extracts inhibit the growth of some bacterial triggers of autoimmune diseases: GC-MS analysis of an inhibitory extract. ( 30446926 )
2019
29
Late-onset biopsy-proven lupus nephritis without other associated autoimmune diseases: severity and long-term outcome. ( 30442061 )
2019
30
Autoimmune Diseases in Systemic Sclerosis Patients and Their Relatives: Data from a Single Center. ( 30685902 )
2019
31
Clinical Implications of Excessive Neutrophil Extracellular Trap Formation in Renal Autoimmune Diseases. ( 30775617 )
2019
32
Emerging role of air pollution in autoimmune diseases. ( 30959217 )
2019
33
Helminth-Related Tuftsin-Phosphorylcholine Compound and its Interplay with Autoimmune Diseases. ( 30905098 )
2019
34
Diagnostic Utility of Separate Anti-Ro60 and Anti-Ro52/TRIM21 Antibody Detection in Autoimmune Diseases. ( 30915082 )
2019
35
Accuracy of neutrophil CD64 expression in diagnosing infection in patients with autoimmune diseases: a meta-analysis. ( 30915651 )
2019
36
Tolerability and safety of long-term rituximab treatment in systemic inflammatory and autoimmune diseases. ( 30923955 )
2019
37
Altered X-chromosome inactivation in T cells may promote sex-biased autoimmune diseases. ( 30944248 )
2019
38
Autoimmune Diseases and Psychotic Disorders. ( 30949074 )
2019
39
Lymphatic Function in Autoimmune Diseases. ( 30949174 )
2019
40
Emerging views of mitophagy in immunity and autoimmune diseases. ( 30951392 )
2019
41
Immunotherapies for autoimmune diseases. ( 30952989 )
2019
42
Endothelial function features and properties of large vessel behavior in systemic autoimmune diseases: a cross-talk among cardiovascular disease risk factors. ( 30959211 )
2019
43
Poor vaccine-related immunity against HBV in children with autoimmune diseases: Early or late sign of immunological disorder? ( 30992122 )
2019
44
Roles of CircRNAs in Autoimmune Diseases. ( 31001261 )
2019
45
New therapeutic strategies based on IL-2 to modulate Treg cells for autoimmune diseases. ( 31005777 )
2019
46
The Immunomodulatory Effect of Alpha-Lipoic Acid in Autoimmune Diseases. ( 31016198 )
2019
47
Multifaceted Roles of Neutrophils in Autoimmune Diseases. ( 31016207 )
2019
48
Differential Effects of Mesenchymal Stem Cells on T Cells Isolated from Childhood Allergies and Autoimmune Diseases. ( 31021417 )
2019
49
Genome-Wide DNA Methylation Profiles Reveal Common Epigenetic Patterns of Interferon-Related Genes in Multiple Autoimmune Diseases. ( 31024609 )
2019
50
Pharmacodynamics of rituximab on B lymphocytes in paediatric patients with autoimmune diseases. ( 31026092 )
2019

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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