MCID: ATM111
MIFTS: 30

Autoimmune Hepatitis Type 2

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

Aliases & Classifications for Autoimmune Hepatitis Type 2

MalaCards integrated aliases for Autoimmune Hepatitis Type 2:

Name: Autoimmune Hepatitis Type 2 58
Aih Type 2 58

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Orphanet 58 ORPHA563581

Summaries for Autoimmune Hepatitis Type 2

MalaCards based summary : Autoimmune Hepatitis Type 2, also known as aih type 2, is related to hypoadrenocorticism, familial and autoimmune hepatitis. An important gene associated with Autoimmune Hepatitis Type 2 is CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Aldosterone synthesis and secretion. The drugs Immunoglobulin G and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and t cells, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Autoimmune Hepatitis Type 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 28.7 CYP21A2 CYP17A1 CYP11A1
2 autoimmune hepatitis 10.5
3 hepatitis 10.1
4 autoimmune disease 10.1
5 hepatitis c 10.1
6 liver disease 10.1
7 hepatitis c virus 10.0
8 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8
9 primary biliary cirrhosis 9.8
10 drug-induced hepatitis 9.8
11 pharyngitis 9.8
12 cervical adenitis 9.8
13 juvenile rheumatoid arthritis 9.8
14 arthritis 9.8
15 stomatitis 9.8
16 aphthous stomatitis 9.8
17 autoimmune hepatitis type 1 9.8
18 polyendocrinopathy 9.8 CYP17A1 CYP11A1
19 autoimmune polyendocrine syndrome 9.8 CYP21A2 CYP11A1
20 inherited metabolic disorder 9.8 UGT1A1 CYP21A2
21 adrenocortical carcinoma, hereditary 9.8 CYP17A1 CYP11A1
22 smith-lemli-opitz syndrome 9.7 CYP17A1 CYP11A1
23 acute adrenal insufficiency 9.7 CYP21A2 CYP11A1
24 hypospadias 9.7 CYP17A1 CYP11A1
25 cryptorchidism, unilateral or bilateral 9.6 CYP17A1 CYP11A1
26 cytochrome p450 oxidoreductase deficiency 9.6 CYP21A2 CYP17A1
27 premature ovarian failure 1 9.5 CYP17A1 CYP11A1
28 transsexualism 9.5 CYP21A2 CYP17A1
29 sebaceous gland disease 9.5 CYP21A2 CYP17A1
30 ovarian disease 9.4 CYP17A1 CYP11A1
31 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.3 CYP21A2 CYP17A1 CYP11A1
32 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.3 CYP21A2 CYP17A1 CYP11A1
33 steroid inherited metabolic disorder 9.3 CYP21A2 CYP17A1 CYP11A1
34 adrenal cortical hypofunction 9.3 CYP21A2 CYP17A1 CYP11A1
35 sex development disorder 9.3 CYP21A2 CYP17A1 CYP11A1
36 antley-bixler syndrome 9.3 CYP21A2 CYP17A1 CYP11A1
37 adrenal cortical carcinoma 9.3 CYP21A2 CYP17A1 CYP11A1
38 leydig cell tumor 9.3 CYP21A2 CYP17A1 CYP11A1
39 adrenal cortex disease 9.3 CYP21A2 CYP17A1 CYP11A1
40 adrenal cortical adenoma 9.3 CYP21A2 CYP17A1 CYP11A1
41 adrenal gland disease 9.3 CYP21A2 CYP17A1 CYP11A1
42 adrenal adenoma 9.3 CYP21A2 CYP17A1 CYP11A1
43 lipoid congenital adrenal hyperplasia 9.2 CYP21A2 CYP17A1 CYP11A1
44 46 xy gonadal dysgenesis 9.2 CYP21A2 CYP17A1 CYP11A1
45 hyperandrogenism 9.2 CYP21A2 CYP17A1 CYP11A1
46 adrenal carcinoma 9.2 CYP21A2 CYP17A1 CYP11A1
47 asperger syndrome 9.2 CYP21A2 CYP17A1 CYP11A1
48 polycystic ovary syndrome 9.2 CYP21A2 CYP17A1 CYP11A1
49 conn's syndrome 9.2 CYP21A2 CYP17A1 CYP11A1

Graphical network of the top 20 diseases related to Autoimmune Hepatitis Type 2:



Diseases related to Autoimmune Hepatitis Type 2

Symptoms & Phenotypes for Autoimmune Hepatitis Type 2

GenomeRNAi Phenotypes related to Autoimmune Hepatitis Type 2 according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.96 CYP11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.96 CYP21A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.96 CYP21A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.96 CYP11A1 CYP21A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.96 CYP11A1 CYP21A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.96 CYP21A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.96 CYP21A2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.96 CYP11A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.75 CYP11A1 CYP17A1 CYP21A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 CYP21A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 CYP11A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.75 CYP11A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.75 CYP11A1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.75 CYP17A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.75 CYP21A2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.75 CYP11A1 CYP17A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.75 CYP21A2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 CYP11A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 CYP21A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.75 CYP17A1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.75 CYP21A2

Drugs & Therapeutics for Autoimmune Hepatitis Type 2

Drugs for Autoimmune Hepatitis Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulin G Phase 1, Phase 2
2 Liver Extracts Phase 1, Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Antibodies Phase 1, Phase 2

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

Search NIH Clinical Center for Autoimmune Hepatitis Type 2

Genetic Tests for Autoimmune Hepatitis Type 2

Anatomical Context for Autoimmune Hepatitis Type 2

MalaCards organs/tissues related to Autoimmune Hepatitis Type 2:

40
Liver, Kidney, T Cells, B Cells, Cortex, Adrenal Gland, Skin

Publications for Autoimmune Hepatitis Type 2

Articles related to Autoimmune Hepatitis Type 2:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Tryptophan-kynurenine profile in pediatric autoimmune hepatitis. 61
30666511 2019
2
[Autoimmune hepatitis: Immunological diagnosis]. 61
28919271 2017
3
The influence of genetic predisposition and autoimmune hepatitis inducing antigens in disease development. 61
27974250 2017
4
Autoimmune hepatitis: From mechanisms to therapy. 61
27161382 2016
5
Autoimmune Hepatitis Type 2 Associated With Positive Antimitochondrial Antibodies: An Overlap Syndrome? 61
26025341 2016
6
[Clinical analysis of liver transplantation for autoimmune hepatitis]. 61
26743248 2015
7
Autoantibodies to asialoglycoprotein receptor (ASGPR) in patients with autoimmune liver diseases. 61
26220739 2015
8
Hyaline droplets in Kupffer cells: a novel diagnostic clue for autoimmune hepatitis. 61
25634746 2015
9
Update on Autoimmune Hepatitis. 61
26357634 2015
10
Retinoic acid stabilizes antigen-specific regulatory T-cell function in autoimmune hepatitis type 2. 61
24566085 2014
11
HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population. 61
25755530 2014
12
Clinical significance of autoantibodies in autoimmune hepatitis. 61
24016388 2013
13
Autoimmune hepatitis: Contrasts and comparisons in children and adults - a comprehensive review. 61
24035197 2013
14
Anti-mitochondrial antibody positive autoimmune hepatitis triggered by EBV infection in a young girl. 61
24206743 2013
15
Mechanism of autoimmune hepatic fibrogenesis induced by an adenovirus encoding the human liver autoantigen cytochrome P450 2D6. 61
23809878 2013
16
The role of autoantibodies in autoimmune hepatitis type 2. 61
23444954 2013
17
Autoimmune hepatitis type-2 and Epstein-Barr virus infection in a toddler: art of facts or an artifact? 61
23293207 2013
18
Autoimmune hepatitis type 2 associated with an unexpected and transient presence of primary biliary cirrhosis-specific antimitochondrial antibodies: a case study and review of the literature. 61
22816667 2012
19
Autoimmune hepatitis in children: an overview of the disease focusing on current therapies. 61
22495399 2012
20
Liver transplantation for autoimmune hepatitis in Peru: outcomes and recurrence. 61
22345339 2012
21
Clinico-laboratory study on children with auto-immune hepatitis in Upper Egypt. 61
22305497 2011
22
Autoimmune hepatitis type 2 in a child with IPEX syndrome. 61
21629128 2011
23
Autoimmune hepatitis type 2 following anti-papillomavirus vaccination in a 11-year-old girl. 61
21596082 2011
24
Autoantigen-specific regulatory T cells, a potential tool for immune-tolerance reconstitution in type-2 autoimmune hepatitis. 61
21274874 2011
25
Primary biliary cirrhosis and autoimmune hepatitis: apotopes and epitopes. 61
20798971 2011
26
HLA-DRB1 as a risk factor in children with autoimmune hepatitis and its relation to hepatitis A infection. 61
21067577 2010
27
Childhood autoimmune liver disease: indications and outcome of liver transplantation. 61
20118802 2010
28
Autoimmune hepatitis type 2 arising in PFAPA syndrome: coincidences or possible correlations? 61
20142286 2010
29
Risk of HCC: genetic heterogeneity and complex genetics. 61
20022654 2010
30
Aetiopathogenesis of autoimmune hepatitis. 61
19766456 2010
31
LKM-1 sera from autoimmune hepatitis patients that recognize ERp57, carboxylesterase 1 and CYP2D6. 61
20208391 2010
32
Adaptive immunity in autoimmune hepatitis. 61
20460892 2010
33
Incidence of adult form of autoimmune hepatitis in Valencia (Spain). 61
20163033 2009
34
Autoimmune hepatitis. 61
19561543 2009
35
Autoimmune hepatitis in children: what is different from adult AIH? 61
19676002 2009
36
Clinicopathologic spectrum of massive and submassive hepatic necrosis in infants and children. 61
19121848 2009
37
Autoimmune diseases of the liver and biliary tract and overlap syndromes in childhood. 61
19212308 2009
38
Muscle weakness in a girl with autoimmune hepatitis and Graves' disease. 61
18604559 2009
39
Aetiopathogenesis of autoimmune hepatitis. 61
18528928 2008
40
The N-terminal of human UGT1A6 is on the outside, as evidenced by ELISA with autoantibody in autoimmune hepatitis sera. 61
19356052 2007
41
Cytochrome P450IID6-specific CD8 T cell immune responses mirror disease activity in autoimmune hepatitis type 2. 61
17559153 2007
42
The impact of autoimmunity on hepatocytes. 61
17520514 2007
43
Antibodies to filamentous actin (F-actin) in type 1 autoimmune hepatitis. 61
16505279 2006
44
Polyclonal T-cell responses to cytochrome P450IID6 are associated with disease activity in autoimmune hepatitis type 2. 61
16530525 2006
45
Juvenile idiopathic arthritis associated with autoimmune hepatitis type 2. 61
15608319 2005
46
Autoantibodies against CYP2D6 and other drug-metabolizing enzymes in autoimmune hepatitis type 2. 61
15747502 2005
47
Features and outcome of autoimmune hepatitis type 2 presenting with isolated positivity for anti-liver cytosol antibody. 61
15354284 2004
48
Linkage disequilibrium between HLA class II region and autoimmune hepatitis in pediatric patients. 61
15158329 2004
49
Autoimmune hepatitis. 61
15722981 2004
50
Autoimmune hepatitis in children. 61
15128490 2004

Variations for Autoimmune Hepatitis Type 2

Expression for Autoimmune Hepatitis Type 2

Search GEO for disease gene expression data for Autoimmune Hepatitis Type 2.

Pathways for Autoimmune Hepatitis Type 2

Pathways related to Autoimmune Hepatitis Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 UGT1A1 CYP21A2 CYP17A1 CYP11A1
2
Show member pathways
12.35 CYP21A2 CYP17A1 CYP11A1
3 11.99 UGT1A1 CYP17A1 CYP11A1
4 11.4 CYP21A2 CYP11A1
5
Show member pathways
11.08 CYP21A2 CYP17A1 CYP11A1
6 11.06 CYP17A1 CYP11A1
7
Show member pathways
10.74 UGT1A1 CYP21A2 CYP17A1 CYP11A1
8
Show member pathways
10.6 CYP21A2 CYP17A1

GO Terms for Autoimmune Hepatitis Type 2

Cellular components related to Autoimmune Hepatitis Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.33 UGT1A1 CYP21A2 CYP17A1
2 intracellular membrane-bounded organelle GO:0043231 9.13 UGT1A1 CYP21A2 CYP17A1
3 organelle membrane GO:0031090 8.62 CYP21A2 CYP17A1

Biological processes related to Autoimmune Hepatitis Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 CYP21A2 CYP17A1 CYP11A1
2 steroid biosynthetic process GO:0006694 9.33 CYP21A2 CYP17A1 CYP11A1
3 sterol metabolic process GO:0016125 9.26 CYP21A2 CYP11A1
4 steroid metabolic process GO:0008202 9.26 UGT1A1 CYP21A2 CYP17A1 CYP11A1
5 glucocorticoid biosynthetic process GO:0006704 8.8 CYP21A2 CYP17A1 CYP11A1

Molecular functions related to Autoimmune Hepatitis Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 CYP21A2 CYP17A1 CYP11A1
2 heme binding GO:0020037 9.33 CYP21A2 CYP17A1 CYP11A1
3 steroid binding GO:0005496 9.26 UGT1A1 CYP21A2
4 iron ion binding GO:0005506 9.13 CYP21A2 CYP17A1 CYP11A1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.8 CYP21A2 CYP17A1 CYP11A1

Sources for Autoimmune Hepatitis Type 2

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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