MCID: ATM112
MIFTS: 35

Autoimmune Hepatitis Type 1

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Liver diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autoimmune Hepatitis Type 1

MalaCards integrated aliases for Autoimmune Hepatitis Type 1:

Name: Autoimmune Hepatitis Type 1 58
Aih Type 1 58

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Orphanet 58 ORPHA563576

Summaries for Autoimmune Hepatitis Type 1

MalaCards based summary : Autoimmune Hepatitis Type 1, also known as aih type 1, is related to sclerosing cholangitis and cholangitis. An important gene associated with Autoimmune Hepatitis Type 1 is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Liver Extracts and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Autoimmune Hepatitis Type 1

Diseases in the Hepatitis family:

Hepatitis C Virus Hepatitis a
Hepatitis C Viral Hepatitis
Hepatitis B Hepatitis D
Autoimmune Hepatitis Hepatitis E
Autoimmune Hepatitis Type 2 Autoimmune Hepatitis Type 1

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

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 sclerosing cholangitis 29.8 IL10 HLA-DRB1 GPT
2 cholangitis 29.8 IL10 HLA-DRB1 GPT
3 graft-versus-host disease 29.6 IL10 HLA-DRB1 HLA-DQB1
4 autoimmune hepatitis 29.5 IL4 IL10 HLA-DRB1 HLA-DQB1 GPT
5 autoimmune disease 28.5 IL4 IL10 HLA-DRB1 HLA-DQB1 HLA-DQA1 BMP6
6 primary biliary cirrhosis 28.4 IL4 IL10 HLA-DRB1 HLA-DQB1 HLA-DQA1 GPT
7 hashimoto thyroiditis 28.4 IL4 IL10 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 multiple sclerosis 28.4 IL4 IL10 HLA-DRB1 HLA-DQB1 HLA-DQA1
9 inflammatory bowel disease 28.0 IL4 IL10 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
10 celiac disease 1 27.8 SH2B3 IL4 IL10 HLA-DRB1 HLA-DQB1 HLA-DQA1
11 nontuberculous mycobacterial lung disease 10.4 HLA-DRB1 BMP6
12 limbic encephalitis with lgi1 antibodies 10.4 HLA-DRB1 HLA-DQB1
13 autoimmune polyglandular syndrome type 3 10.4 HLA-DRB1 HLA-DQB1
14 hypersomnia 10.4 HLA-DRB1 HLA-DQB1
15 narcolepsy 2 10.4 HLA-DRB1 HLA-DQB1
16 type ii mixed cryoglobulinemia 10.3 HLA-DRB1 HLA-DQB1
17 achalasia, familial esophageal 10.3 HLA-DQB1 HLA-DQA1
18 moyamoya angiopathy 10.3 HLA-DRB1 HLA-DQB1
19 recurrent respiratory papillomatosis 10.3 HLA-DRB1 HLA-DQB1
20 apple allergy 10.3 HLA-DRB1 HLA-DQB1
21 chronic beryllium disease 10.3 HLA-DRB1 HLA-DQB1
22 pediatric multiple sclerosis 10.3 HLA-DRB1 HLA-DQB1
23 narcolepsy 1 10.3 HLA-DRB1 HLA-DQB1
24 cholecystolithiasis 10.3 GPT BMP6
25 podoconiosis 10.3 HLA-DQB1 HLA-DQA1
26 osteonecrosis of the jaw 10.3 HLA-DRB1 HLA-DQB1
27 red cell aplasia 10.3 HLA-DRB1 HLA-DQB1
28 whipple disease 10.3 HLA-DRB1 HLA-DQB1
29 eosinophilia-myalgia syndrome 10.2 HLA-DRB1 HLA-DQA1 BMP6
30 paraneoplastic pemphigus 10.2 HLA-DRB1 HLA-DQB1
31 juvenile myasthenia gravis 10.2 IL10 HLA-DRB1
32 diffuse cutaneous systemic sclerosis 10.2 ICOS HLA-DRB1
33 primary adrenal insufficiency 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
34 beryllium disease 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
35 focal epithelial hyperplasia 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
36 alveolar echinococcosis 10.2 HLA-DRB1 HLA-DQB1
37 idiopathic bronchiectasis 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
38 oligoarticular juvenile idiopathic arthritis 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
39 guillain-barre syndrome 10.1 HLA-DRB1 HLA-DQB1 HLA-DQA1
40 discoid lupus erythematosus 10.1 IL10 HLA-DRB1
41 intrahepatic cholestasis of pregnancy 10.1 HLA-DRB1 HLA-DQA1 GPT
42 narcolepsy 10.1 HLA-DRB1 HLA-DQB1 HLA-DQA1
43 idiopathic neutropenia 10.1 IL10 HLA-DRB1
44 liver disease 10.1
45 severe cutaneous adverse reaction 10.1 HLA-DRB1 HLA-DQB1 GPT
46 typhoid fever 10.1 HLA-DRB1 HLA-DQB1 GPT
47 tuberculoid leprosy 10.1 IL10 BMP6
48 pityriasis rosea 10.0 HLA-DRB3 HLA-DRB1 HLA-DQB1
49 african tick-bite fever 10.0 IL10 GPT
50 pure red-cell aplasia 10.0 HLA-DRB1 HLA-DQB1

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



Diseases related to Autoimmune Hepatitis Type 1

Symptoms & Phenotypes for Autoimmune Hepatitis Type 1

GenomeRNAi Phenotypes related to Autoimmune Hepatitis Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.44 HLA-DRB3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.44 HLA-DRB1 IL10
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.44 IL10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.44 IL10
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.44 IL10
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.44 IL10
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.44 IL10
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.44 HLA-DRB3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.44 HLA-DRB1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 9.44 HLA-DRB1 HLA-DRB3 IL10

Drugs & Therapeutics for Autoimmune Hepatitis Type 1

Drugs for Autoimmune Hepatitis Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 1, Phase 2
2 Immunoglobulins Phase 1, Phase 2
3 Antibodies Phase 1, Phase 2
4 Immunoglobulins, Intravenous Phase 1, Phase 2
5 Immunoglobulin G Phase 1, Phase 2
6 Immunosuppressive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study of UC-MSC Treatment for Evaluation the Efficacy and Safety in Patients With Autoimmune Liver Disease Unknown status NCT01661842 Phase 1, Phase 2
2 Multicentric Study on the Long-term Follow-up of Autoimmune Hepatitis in the Pediatric Patients Completed NCT04247490

Search NIH Clinical Center for Autoimmune Hepatitis Type 1

Genetic Tests for Autoimmune Hepatitis Type 1

Anatomical Context for Autoimmune Hepatitis Type 1

MalaCards organs/tissues related to Autoimmune Hepatitis Type 1:

40
Liver, Bone Marrow, Bone, Neutrophil, Smooth Muscle, Thyroid, T Cells

Publications for Autoimmune Hepatitis Type 1

Articles related to Autoimmune Hepatitis Type 1:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Comprehensive meta-analysis reveals an association of the HLA-DRB1*1602 allele with autoimmune diseases mediated predominantly by autoantibodies. 61
32234402 2020
2
Hyposplenism, Hashimoto's Autoimmune Thyroiditis and Overlap Syndrome (Celiac Disease and Autoimmune Hepatitis Type 1). 61
32563569 2020
3
Insights on the Effects of Resveratrol and Some of Its Derivatives in Cancer and Autoimmunity: A Molecule with a Dual Activity. 61
31978952 2020
4
Autoantibodies in patients with interleukin 12 receptor beta 1 deficiency. 61
31111679 2019
5
Tryptophan-kynurenine profile in pediatric autoimmune hepatitis. 61
30666511 2019
6
Chloroquine Is Effective for Maintenance of Remission in Autoimmune Hepatitis: Controlled, Double-Blind, Randomized Trial. 61
30619999 2019
7
The clinical usage and definition of autoantibodies in immune-mediated liver disease: A comprehensive overview. 61
30366656 2018
8
Autoimmune liver disease serology in acute hepatitis E virus infection. 61
30336842 2018
9
Association of interleukin (IL)-4 variable number of tandem repeats (VNTRs) and IL-4-590 promoter polymorphisms with susceptibility to pediatric autoimmune hepatitis type 1. 61
29396050 2018
10
Role of age in presentation, response to therapy and outcome of autoimmune hepatitis. 61
29961755 2018
11
Risk of malignancies in autoimmune hepatitis type 1 patients with a long-term follow-up in Japan. 61
28841782 2018
12
Autoimmune Hepatitis in Children. 61
29446799 2018
13
Anti-TNF╬▒ Treatment in Children and Adolescents With Combined Inflammatory Bowel Disease and Autoimmune Liver Disease. 61
28953529 2018
14
Influence of TBX21 T-1993C variant on autoimmune hepatitis development by Yin-Yang 1 binding. 61
29358858 2017
15
[Autoimmune hepatitis: Immunological diagnosis]. 61
28919271 2017
16
Association of autoimmune hepatitis type 1 in a child with Evans syndrome. 61
28878866 2017
17
Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1. 61
27974812 2017
18
Hyperferritinemia and hypergammaglobulinemia predict the treatment response to standard therapy in autoimmune hepatitis. 61
28594937 2017
19
Autoimmune hepatitis: From mechanisms to therapy. 61
27161382 2016
20
Transient Expression of Transgenic IL-12 in Mouse Liver Triggers Unremitting Inflammation Mimicking Human Autoimmune Hepatitis. 61
27511737 2016
21
Autoantibody presentation in drug-induced liver injury and idiopathic autoimmune hepatitis: the influence of human leucocyte antigen alleles. 61
27206238 2016
22
Autoimmune hepatitis and long-term disease course in children in Turkey, a single-center experience. 61
27254777 2016
23
Diagnostic Performance of an Anti-Actin Autoantibody Binding Enzyme Immunodot Blot in Autoimmune Hepatitis Type 1. 61
25425293 2016
24
[Clinical analysis of liver transplantation for autoimmune hepatitis]. 61
26743248 2015
25
A novel "humanized mouse" model for autoimmune hepatitis and the association of gut microbiota with liver inflammation. 61
26185095 2015
26
Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers. 61
26590091 2015
27
Autoantibodies to asialoglycoprotein receptor (ASGPR) in patients with autoimmune liver diseases. 61
26220739 2015
28
In autoimmune hepatitis type 1 or the autoimmune hepatitis-sclerosing cholangitis variant defective regulatory T-cell responsiveness to IL-2 results in low IL-10 production and impaired suppression. 61
25953611 2015
29
A rare case of type-I auto-immune hepatitis and thyroiditis presenting with crescentic glomerulonephritis. 61
26354574 2015
30
Cartilage oligomeric matrix protein: A novel non-invasive marker for assessing cirrhosis and risk of hepatocellular carcinoma. 61
26207169 2015
31
Childhood Autoimmune Hepatitis in Bahrain: a Tertiary Center Experience. 61
26119196 2015
32
Hyaline droplets in Kupffer cells: a novel diagnostic clue for autoimmune hepatitis. 61
25634746 2015
33
HLA-DRB1*03:01 and HLA-DRB1*04:01 modify the presentation and outcome in autoimmune hepatitis type-1. 61
25611558 2015
34
Characteristics and outcome of autoimmune liver disease in Asian children. 61
25788179 2015
35
Autoimmune liver disease in Noonan Syndrome. 61
25595571 2015
36
Update on Autoimmune Hepatitis. 61
26357634 2015
37
Intrahepatic regulatory T cells in autoimmune hepatitis are associated with treatment response and depleted with current therapies. 61
24882050 2014
38
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. 61
24768677 2014
39
Diagnostic criteria of autoimmune hepatitis. 61
24418295 2014
40
HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population. 61
25755530 2014
41
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective. 61
23723078 2013
42
Clinical significance of autoantibodies in autoimmune hepatitis. 61
24016388 2013
43
Autoimmune hepatitis: Contrasts and comparisons in children and adults - a comprehensive review. 61
24035197 2013
44
Anti-mitochondrial antibody positive autoimmune hepatitis triggered by EBV infection in a young girl. 61
24206743 2013
45
Involvement of (IgG and IgM)-secreting B lymphocytes in severity of autoimmune hepatitis type 1. 61
23296906 2013
46
Autoimmune hepatitis in a Jamaican cohort spanning 40 years. 61
24961867 2013
47
Development of a recombinant cell-based indirect immunofluorescence assay for the determination of autoantibodies against soluble liver antigen in autoimmune hepatitis. 61
23401700 2013
48
Hepatic hydrothorax in the absence of ascites in a child with autoimmune hepatitis: Successful management with octreotide and pleurodesis. 61
23934468 2013
49
Autoimmune hepatitis type-2 and Epstein-Barr virus infection in a toddler: art of facts or an artifact? 61
23293207 2013
50
Autoimmune hepatitis in children: an overview of the disease focusing on current therapies. 61
22495399 2012

Variations for Autoimmune Hepatitis Type 1

Expression for Autoimmune Hepatitis Type 1

Search GEO for disease gene expression data for Autoimmune Hepatitis Type 1.

Pathways for Autoimmune Hepatitis Type 1

Pathways related to Autoimmune Hepatitis Type 1 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 IL4 IL10 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1
2
Show member pathways
13.29 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
3
Show member pathways
13.21 IL4 IL10 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
4
Show member pathways
13.1 IL4 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
5
Show member pathways
12.79 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
6
Show member pathways
12.79 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1 CARD10
7
Show member pathways
12.65 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
8
Show member pathways
12.65 IL4 IL10 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1
9 12.63 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
10
Show member pathways
12.48 SH2B3 IL4 IL10 ICOS
11
Show member pathways
12.47 IL4 IL10 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
12
Show member pathways
12.42 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
13
Show member pathways
12.36 IL4 IL10 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1
14
Show member pathways
12.3 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
15
Show member pathways
12.25 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
16 12.24 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
17
Show member pathways
12.13 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
18 12.06 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
19 12 ICOS HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
20 11.94 SH2B3 IL4 IL10 CD14
21
Show member pathways
11.91 IL4 IL10 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
22
Show member pathways
11.9 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
23 11.87 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
24 11.86 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
25 11.81 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
26 11.7 IL4 IL10 ICOS
27 11.7 IL10 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
28 11.69 IL10 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
29 11.66 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
30
Show member pathways
11.66 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
31 11.22 IL4 IL10 HLA-DRB1
32 11.1 IL4 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
33 11.07 IL4 IL10

GO Terms for Autoimmune Hepatitis Type 1

Cellular components related to Autoimmune Hepatitis Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.76 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
2 endosome membrane GO:0010008 9.73 HLA-DRB1 HLA-DQB1 HLA-DQA1 CD14
3 trans-Golgi network membrane GO:0032588 9.71 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
4 endocytic vesicle membrane GO:0030666 9.67 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
5 ER to Golgi transport vesicle membrane GO:0012507 9.62 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
6 transport vesicle membrane GO:0030658 9.56 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.46 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.26 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
9 MHC class II protein complex GO:0042613 8.92 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1

Biological processes related to Autoimmune Hepatitis Type 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.56 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
2 response to magnesium ion GO:0032026 9.54 CD14 BMP6
3 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.52 HLA-DRB1 HLA-DQA1
4 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.51 IL4 IL10
5 antigen processing and presentation GO:0019882 9.5 HLA-DRB1 HLA-DQB1 HLA-DQA1
6 response to molecule of bacterial origin GO:0002237 9.49 IL10 CD14
7 positive regulation of MHC class II biosynthetic process GO:0045348 9.48 IL4 IL10
8 type 2 immune response GO:0042092 9.46 IL4 IL10
9 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.46 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
10 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.43 HLA-DRB1 HLA-DQB1
11 regulation of isotype switching GO:0045191 9.4 IL4 IL10
12 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.37 HLA-DRB1 HLA-DQB1
13 interferon-gamma-mediated signaling pathway GO:0060333 9.26 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
14 immune response GO:0006955 9.17 IL4 IL10 ICOS HLA-DRB1 HLA-DQB1 HLA-DQA1

Molecular functions related to Autoimmune Hepatitis Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 IL4 IL10 BMP6
2 receptor signaling complex scaffold activity GO:0030159 9.26 SH2B3 CARD10
3 peptide antigen binding GO:0042605 9.26 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1
4 MHC class II receptor activity GO:0032395 8.92 HLA-DRB3 HLA-DRB1 HLA-DQB1 HLA-DQA1

Sources for Autoimmune Hepatitis Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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