MCID: HPT074
MIFTS: 44

Hepatic Adenoma, Somatic

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Hepatic Adenoma, Somatic

MalaCards integrated aliases for Hepatic Adenoma, Somatic:

Name: Hepatic Adenoma, Somatic 54 24 13
Hepatic Adenomas, Familial 24 29 69
Familial Liver Cell Adenomas 71
Hepatic Adenomas Familial 71
Hepatocellular Adenomas 71
Hepatocellular Adenoma 69
Adenoma Hepatocellular 52
Adenoma, Liver Cell 42
Hepaf 71
Ha 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
hepatic adenoma, somatic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 142330
MedGen 40 C1840646
MeSH 42 D018248

Summaries for Hepatic Adenoma, Somatic

UniProtKB/Swiss-Prot : 71 Hepatic adenomas familial: Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).

MalaCards based summary : Hepatic Adenoma, Somatic, also known as hepatic adenomas, familial, is related to gallbladder cancer and focal epithelial hyperplasia, and has symptoms including polycystic ovaries, maturity-onset diabetes of the young and hepatocellular adenoma. An important gene associated with Hepatic Adenoma, Somatic is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Pathways in cancer and Endometrial cancer. Affiliated tissues include liver and ovary, and related phenotypes are homeostasis/metabolism and digestive/alimentary

Description from OMIM: 142330

Related Diseases for Hepatic Adenoma, Somatic

Diseases related to Hepatic Adenoma, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 4041)
id Related Disease Score Top Affiliating Genes
1 gallbladder cancer 30.1 AFP CTNNB1 GPC3
2 focal epithelial hyperplasia 30.1 AFP GPC3
3 anencephaly 28.7 APC CTNNB1
4 apocrine adenocarcinoma 28.4 AFP CTNNB1 GPC3
5 hepatocellular carcinoma 27.0 AFP APC CTNNB1 G6PC GPC3 HNF1A
6 diabetes mellitus, insulin-dependent, 20 25.4 AFP APC CTNNB1 G6PC GPC3 HNF1A
7 hyperinsulinism-hyperammonemia syndrome 11.4
8 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
9 adie pupil 11.1
10 aortic aneurysm 11.1
11 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.7
12 cataract 42 10.7
13 renal tubular acidosis, distal, ar 10.7
14 hemiparkinsonism-hemiatrophy syndrome 10.7
15 hemidystonia-hemiatrophy syndrome 10.7
16 hinman syndrome 10.7
17 influenza 10.7
18 avian influenza 10.7
19 hepatitis c 10.7
20 crimean-congo hemorrhagic fever 10.7
21 swine influenza 10.7
22 hemorrhagic fever with renal syndrome 10.6
23 newcastle disease 10.6
24 hepatitis e 10.6
25 poliomyelitis 10.6
26 hepatitis b 10.6
27 hepatitis a 10.6
28 japanese encephalitis 10.6
29 chickenpox 10.6
30 yellow fever 10.6
31 scrub typhus 10.6
32 genital herpes 10.6
33 melanoma 10.6
34 listeriosis 10.6
35 mumps 10.6
36 rift valley fever 10.6
37 rubella 10.5
38 q fever 10.5
39 breast cancer 10.5
40 adenocarcinoma 10.5
41 asthma 10.5
42 venezuelan equine encephalitis 10.5
43 appendicitis 10.5
44 measles 10.5
45 spotted fever 10.5
46 vaccinia 10.5
47 tabes dorsalis 10.5
48 leptospirosis 10.5
49 lyme disease 10.5
50 bronchiolitis 10.5

Graphical network of the top 20 diseases related to Hepatic Adenoma, Somatic:



Diseases related to Hepatic Adenoma, Somatic

Symptoms & Phenotypes for Hepatic Adenoma, Somatic

Symptoms via clinical synopsis from OMIM:

54

GI:
liver-cell adenomas

GU:
sclerocystic ovaries

Metabolic:
insulin-dependent maturity-onset diabetes of the young


Clinical features from OMIM:

142330

Human phenotypes related to Hepatic Adenoma, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 polycystic ovaries 32 HP:0000147
2 maturity-onset diabetes of the young 32 HP:0004904
3 hepatocellular adenoma 32 HP:0012028

MGI Mouse Phenotypes related to Hepatic Adenoma, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.98 AFP APC CTNNB1 G6PC GPC3 HNF1A
2 digestive/alimentary MP:0005381 9.95 APC CTNNB1 GPC3 HNF1A RASSF1 TGFA
3 endocrine/exocrine gland MP:0005379 9.93 AFP APC CTNNB1 HNF1A RASSF1 TGFA
4 mortality/aging MP:0010768 9.87 RASSF1 AFP APC CTNNB1 G6PC GPC3
5 liver/biliary system MP:0005370 9.85 AFP APC CTNNB1 G6PC HNF1A RASSF1
6 integument MP:0010771 9.8 APC CTNNB1 GPC3 HNF1A TGFA
7 neoplasm MP:0002006 9.65 AFP APC CTNNB1 G6PC RASSF1
8 renal/urinary system MP:0005367 9.55 APC CTNNB1 G6PC GPC3 HNF1A
9 reproductive system MP:0005389 9.43 AFP APC CTNNB1 GPC3 HNF1A TGFA
10 skeleton MP:0005390 9.1 CTNNB1 G6PC GPC3 HNF1A TGFA APC

Drugs & Therapeutics for Hepatic Adenoma, Somatic

Search Clinical Trials , NIH Clinical Center for Hepatic Adenoma, Somatic

Cochrane evidence based reviews: adenoma, liver cell

Genetic Tests for Hepatic Adenoma, Somatic

Genetic tests related to Hepatic Adenoma, Somatic:

id Genetic test Affiliating Genes
1 Hepatic Adenomas, Familial 29
2 Hepatic Adenoma, Somatic 24 HNF1A

Anatomical Context for Hepatic Adenoma, Somatic

MalaCards organs/tissues related to Hepatic Adenoma, Somatic:

39
Liver, Ovary

Publications for Hepatic Adenoma, Somatic

Variations for Hepatic Adenoma, Somatic

ClinVar genetic disease variations for Hepatic Adenoma, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh37 Chromosome 12, 121432125: 121432125

Expression for Hepatic Adenoma, Somatic

Search GEO for disease gene expression data for Hepatic Adenoma, Somatic.

Pathways for Hepatic Adenoma, Somatic

Pathways related to Hepatic Adenoma, Somatic according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1 12.27 APC CTNNB1 RASSF1 TGFA
2
Show member pathways
12.23 APC CTNNB1 RASSF1 TGFA
3
Show member pathways
12.16 APC CTNNB1 HNF1A
4 12.12 APC CTNNB1 HNF1A
5 11.94 AFP APC CTNNB1
6
Show member pathways
11.9 APC CTNNB1 GPC3
7 11.78 APC CTNNB1 HNF1A
8 11.73 AFP APC TGFA
9 11.64 APC CTNNB1 G6PC
10 11.44 AFP APC CTNNB1 RASSF1
11 11.33 APC CTNNB1 TGFA
12 11.31 APC CTNNB1
13 11.25 CTNNB1 G6PC
14 11.19 APC CTNNB1
15 11.1 APC CTNNB1 HNF1A
16 10.98 AFP G6PC HNF1A
17 10.9 APC CTNNB1
18 10.73 APC CTNNB1
19 10.28 APC CTNNB1 TGFA

GO Terms for Hepatic Adenoma, Somatic

Cellular components related to Hepatic Adenoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.26 APC CTNNB1
2 beta-catenin destruction complex GO:0030877 9.16 APC CTNNB1
3 catenin complex GO:0016342 8.96 APC CTNNB1
4 Wnt signalosome GO:1990909 8.62 APC CTNNB1

Biological processes related to Hepatic Adenoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein catabolic process GO:0045732 9.43 APC GPC3
2 SMAD protein signal transduction GO:0060395 9.4 AFP HNF1A
3 branching involved in ureteric bud morphogenesis GO:0001658 9.37 CTNNB1 GPC3
4 embryonic hindlimb morphogenesis GO:0035116 9.32 CTNNB1 GPC3
5 osteoclast differentiation GO:0030316 9.26 CTNNB1 GPC3
6 bone resorption GO:0045453 9.16 CTNNB1 HNF1A
7 beta-catenin destruction complex disassembly GO:1904886 8.96 APC CTNNB1
8 anterior/posterior axis specification GO:0009948 8.62 CTNNB1 GPC3

Sources for Hepatic Adenoma, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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