AIS1
MCID: ATM052
MIFTS: 41

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 610)
# 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 12.3
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 11.7
22 itch e3 ubiquitin ligase deficiency 11.6
23 vitiligo-associated multiple autoimmune disease susceptibility 1 11.6
24 distal trisomy 3p 11.4
25 multiple sclerosis 11.3
26 sjogren syndrome 11.3
27 lupus erythematosus 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 hashimoto thyroiditis 11.3
33 autoimmune polyglandular syndrome type 3 11.3
34 pemphigus 11.3
35 igg4-related disease 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 stiff-person syndrome 11.2
42 undifferentiated connective tissue disease 11.2
43 diabetes mellitus 11.2
44 perrault syndrome 1 11.2
45 myasthenia gravis 11.1
46 scleroderma, familial progressive 11.1
47 psoriasis 11.1
48 primary biliary cirrhosis 11.1
49 alopecia areata 11.1
50 allergic encephalomyelitis 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, Bone, Endothelial, Skin, Bone Marrow

Publications for Autoimmune Disease 1

Articles related to Autoimmune Disease 1:

(show top 50) (show all 3174)
# 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
Editorial: Autism Spectrum Disorder and Autoimmune Diseases: A Pathway in Common? ( 30902666 )
2019
4
The association between infection incidence and autoimmune diseases in breast cancer patients after anti-cancer treatment. ( 30854088 )
2019
5
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
6
Population based study: atopy and autoimmune diseases are associated with functional dyspepsia and irritable bowel syndrome, independent of psychological distress. ( 30687959 )
2019
7
Evidence for an association between endometriosis, fibromyalgia and autoimmune diseases. ( 30682223 )
2019
8
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
9
Autoimmune diseases in myelodysplastic syndrome favors patients survival: A case control study and literature review. ( 30408583 )
2019
10
Pleuroparenchymal fibroelastosis as a histological background of autoimmune diseases. ( 30327882 )
2019
11
Prognostic factors of Pneumocystis pneumonia in patients with systemic autoimmune diseases. ( 30908547 )
2019
12
Pneumocystis jirovecii pneumonia prophylaxis in immunocompromised patients with systemic autoimmune diseases. ( 30853123 )
2019
13
Androgen deprivation therapy for prostate cancer and the risk of autoimmune diseases. ( 30692587 )
2019
14
Familial Aggregation of Psoriasis and Co-Aggregation of Autoimmune Diseases in Affected Families. ( 30669308 )
2019
15
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases. ( 30614601 )
2019
16
Autoimmune Diseases in Systemic Sclerosis Patients and Their Relatives: Data from a Single Center. ( 30685902 )
2019
17
Clinical Implications of Excessive Neutrophil Extracellular Trap Formation in Renal Autoimmune Diseases. ( 30775617 )
2019
18
Amino acid metabolism as drug target in autoimmune diseases. ( 30797943 )
2019
19
Prevalence of autoimmune diseases and clinical significance of autoantibody profile: data from National Institute of Hygiene in Rabat, Morocco. ( 30807792 )
2019
20
Use and Safety of Viscum album L Applications in Cancer Patients With Preexisting Autoimmune Diseases: Findings From the Network Oncology Study. ( 30808274 )
2019
21
Electrochemical Biosensors as Potential Diagnostic Devices for Autoimmune Diseases. ( 30836674 )
2019
22
Potential Implications of Long Noncoding RNAs in Autoimmune Diseases. ( 30838159 )
2019
23
Shared genetic factors and their causality in autoimmune diseases. ( 30842123 )
2019
24
Aberrant Expressions of Co-stimulatory and Co-inhibitory Molecules in Autoimmune Diseases. ( 30842773 )
2019
25
Autoimmune Diseases of the Biliary Tract: A Review. ( 30846029 )
2019
26
Flip-flops of natural killer cells in autoimmune diseases versus cancers: Immunologic axis. ( 30864163 )
2019
27
Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach. ( 30871019 )
2019
28
Role of NFAT5 in the Immune System and Pathogenesis of Autoimmune Diseases. ( 30873159 )
2019
29
The pathogenicity of Th17 cells in autoimmune diseases. ( 30891627 )
2019
30
Vaccination against autoimmune diseases moves closer to the clinic. ( 30900933 )
2019
31
Helminth-Related Tuftsin-Phosphorylcholine Compound and its Interplay with Autoimmune Diseases. ( 30905098 )
2019
32
Diagnostic Utility of Separate Anti-Ro60 and Anti-Ro52/TRIM21 Antibody Detection in Autoimmune Diseases. ( 30915082 )
2019
33
Accuracy of neutrophil CD64 expression in diagnosing infection in patients with autoimmune diseases: a meta-analysis. ( 30915651 )
2019
34
The pathogenesis of thyroid autoimmune diseases: New T lymphocytes - Cytokines circuits beyond the Th1-Th2 paradigm. ( 30246383 )
2019
35
The role of flavonoids in autoimmune diseases: Therapeutic updates. ( 30268770 )
2019
36
The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases. ( 30312838 )
2019
37
Response to the commentary "The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases" by Biasiotto G and Zanella I.✰. ( 30347338 )
2019
38
The characteristics and pivotal roles of triggering receptor expressed on myeloid cells-1 in autoimmune diseases. ( 30408584 )
2019
39
Similarity of autoimmune diseases based on the profile of immune complex antigens. ( 30426236 )
2019
40
Immunomodulatory effects of probiotics: Can they be used to treat allergies and autoimmune diseases? ( 30502748 )
2019
41
Use of Autologous Serum Tears for the Treatment of Ocular Surface Disease From Patients With Systemic Autoimmune Diseases. ( 30579613 )
2019
42
Corrigendum to 'The role of dietary sodium in autoimmune diseases: The salty truth' [AUTREV 17-11 (2018) 1069-1073]. ( 30587440 )
2019
43
Mesenchymal stem cell-based therapy for autoimmune diseases: emerging roles of extracellular vesicles. ( 30623280 )
2019
44
Differential roles of TNFα-TNFR1 and TNFα-TNFR2 in the differentiation and function of CD4+Foxp3+ induced Treg cells in vitro and in vivo periphery in autoimmune diseases. ( 30631042 )
2019
45
Association between Human Leukocyte Antigens with Autoimmune Diseases: Diagnostic Approach. ( 30644346 )
2019
46
A comment on anti-H. pylori therapy and autoimmune diseases. ( 30660588 )
2019
47
Decreased number and impaired function of type 1 regulatory T cells in autoimmune diseases. ( 30666652 )
2019
48
Bortezomib in antibody-mediated autoimmune diseases (TAVAB): study protocol for a unicentric, non-randomised, non-placebo controlled trial. ( 30696682 )
2019
49
Selective JAKinibs: Prospects in Inflammatory and Autoimmune Diseases. ( 30701418 )
2019
50
General information for patients and carers considering haematopoietic stem cell transplantation (HSCT) for severe autoimmune diseases (ADs): A position statement from the EBMT Autoimmune Diseases Working Party (ADWP), the EBMT Nurses Group, the EBMT Patient, Family and Donor Committee and the Joint Accreditation Committee of ISCT and EBMT (JACIE). ( 30705338 )
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
Content
Loading form....