HEPAF
MCID: HPT082
MIFTS: 39

Hepatic Adenomas, Familial (HEPAF)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Hepatic Adenomas, Familial

MalaCards integrated aliases for Hepatic Adenomas, Familial:

Name: Hepatic Adenomas, Familial 57 29 6 39 70
Familial Liver Cell Adenomas 12 72
Hepatic Adenoma, Somatic 57 13
Familial Hepatic Adenoma 12 15
Liver Cell Adenomas, Familial 57
Hepatic Adenomas Familial 72
Hepatocellular Adenomas 72
Hepatocellular Adenoma 70
Adenoma, Liver Cell 44
Hepaf 72
Ha 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hepatic adenomas, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111366
OMIM® 57 142330
MeSH 44 D018248
MedGen 41 C1840646
UMLS 70 C0206669 C1840646

Summaries for Hepatic Adenomas, Familial

UniProtKB/Swiss-Prot : 72 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 Adenomas, Familial, also known as familial liver cell adenomas, is related to hepatocellular adenoma and non-alcoholic fatty liver disease. An important gene associated with Hepatic Adenomas, Familial is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Signaling by Slit and FOXA2 and FOXA3 transcription factor networks. The drugs Sorafenib and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, and related phenotypes are polycystic ovaries and hepatocellular adenoma

Disease Ontology : 12 A hepatocellular adenoma characterized by highly vascularized liver adenomas that has material basis in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31.

More information from OMIM: 142330

Related Diseases for Hepatic Adenomas, Familial

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 hepatocellular adenoma 10.7
2 non-alcoholic fatty liver disease 10.5
3 glycogen storage disease 10.4
4 glycogen storage disease ia 10.2
5 glycogen storage disease due to glucose-6-phosphatase deficiency 10.2
6 fatty liver disease, nonalcoholic 1 10.1
7 maturity-onset diabetes of the young, type 6 10.1 HNF4A HNF1A
8 maturity-onset diabetes of the young, type 4 10.0 HNF4A HNF1A
9 maturity-onset diabetes of the young, type 2 10.0 HNF4A HNF1A
10 fibrosis of extraocular muscles, congenital, 1 10.0
11 cholestasis 10.0
12 fatty liver disease 10.0
13 congenital hepatic fibrosis 10.0
14 aminoaciduria 10.0 HNF4A HNF1A
15 adenoma 10.0
16 renal cysts and diabetes syndrome 10.0 HNF4A HNF1A
17 maturity-onset diabetes of the young, type 1 9.9 HNF4A HNF1A
18 diaphragm disease 9.9 SLIT3 SLIT1
19 monogenic diabetes 9.9 HNF4A HNF1A
20 hepatocellular carcinoma 9.9
21 polykaryocytosis inducer 9.9
22 tetralogy of fallot 9.9
23 dubin-johnson syndrome 9.9
24 body mass index quantitative trait locus 11 9.9
25 budd-chiari syndrome 9.9
26 body mass index quantitative trait locus 9 9.9
27 body mass index quantitative trait locus 8 9.9
28 body mass index quantitative trait locus 1 9.9
29 body mass index quantitative trait locus 4 9.9
30 body mass index quantitative trait locus 10 9.9
31 body mass index quantitative trait locus 7 9.9
32 aplastic anemia 9.9
33 body mass index quantitative trait locus 12 9.9
34 body mass index quantitative trait locus 14 9.9
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
36 body mass index quantitative trait locus 18 9.9
37 body mass index quantitative trait locus 19 9.9
38 proteinuria, chronic benign 9.9
39 deficiency anemia 9.9
40 cryptococcal meningitis 9.9
41 hemosiderosis 9.9
42 leiomyoma 9.9
43 tuberous sclerosis 9.9
44 islet cell tumor 9.9
45 viral hepatitis 9.9
46 hepatitis b 9.9
47 acute kidney failure 9.9
48 lipid metabolism disorder 9.9
49 liver disease 9.9
50 myofibroma 9.9

Graphical network of the top 20 diseases related to Hepatic Adenomas, Familial:



Diseases related to Hepatic Adenomas, Familial

Symptoms & Phenotypes for Hepatic Adenomas, Familial

Human phenotypes related to Hepatic Adenomas, Familial:

31
# Description HPO Frequency HPO Source Accession
1 polycystic ovaries 31 HP:0000147
2 hepatocellular adenoma 31 HP:0012028
3 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G I:
liver-cell adenomas

G U:
sclerocystic ovaries

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

Clinical features from OMIM®:

142330 (Updated 20-May-2021)

Drugs & Therapeutics for Hepatic Adenomas, Familial

Drugs for Hepatic Adenomas, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
2 Liver Extracts Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Protein Kinase Inhibitors Phase 1, Phase 2
5 Antibodies, Monoclonal Phase 1, Phase 2
6 Antibodies Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Selective Internal Radiation Therapy for Hepatocellular Carcinomas With Yttrium-90 Loaded Microspheres: Optimized Dosimetry Versus Standard Dosimetry Completed NCT02582034 Phase 2
2 A Phase I/II Study of TRC105 in Combination With Sorafenib in Hepatocellular Carcinoma (HCC) Completed NCT01306058 Phase 1, Phase 2 TRC 105;Sorafenib

Search NIH Clinical Center for Hepatic Adenomas, Familial

Cochrane evidence based reviews: adenoma, liver cell

Genetic Tests for Hepatic Adenomas, Familial

Genetic tests related to Hepatic Adenomas, Familial:

# Genetic test Affiliating Genes
1 Hepatic Adenomas, Familial 29 HNF1A

Anatomical Context for Hepatic Adenomas, Familial

MalaCards organs/tissues related to Hepatic Adenomas, Familial:

40
Liver, Bone Marrow, Bone, Kidney

Publications for Hepatic Adenomas, Familial

Articles related to Hepatic Adenomas, Familial:

# Title Authors PMID Year
1
Bi-allelic inactivation of TCF1 in hepatic adenomas. 6 57
12355088 2002
2
Familial liver-cell adenomas and diabetes mellitus. 57 61
207987 1978
3
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6
15649945 2005
4
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 6
12574234 2003
5
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 6
11058894 2000
6
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. 6
9439666 1997
7
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 6
9313763 1997
8
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 6
9032114 1997
9
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) 6
8945470 1996
10
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. 6
8866553 1996

Variations for Hepatic Adenomas, Familial

ClinVar genetic disease variations for Hepatic Adenomas, Familial:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs) Duplication Pathogenic 14927 rs587776825 GRCh37: 12:121432117-121432118
GRCh38: 12:120994314-120994315
2 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) SNV Pathogenic 447503 rs1555212014 GRCh37: 12:121432067-121432067
GRCh38: 12:120994264-120994264
3 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) SNV Pathogenic 14928 rs137853236 GRCh37: 12:121435307-121435307
GRCh38: 12:120997504-120997504
4 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) SNV Pathogenic 431970 rs754729248 GRCh37: 12:121434371-121434371
GRCh38: 12:120996568-120996568
5 HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) SNV Uncertain significance 14948 rs137853247 GRCh37: 12:121416663-121416663
GRCh38: 12:120978860-120978860
6 HNF1A NM_000545.6(HNF1A):c.1501+6C>T SNV Uncertain significance 435420 rs374306837 GRCh37: 12:121435474-121435474
GRCh38: 12:120997671-120997671

Expression for Hepatic Adenomas, Familial

Search GEO for disease gene expression data for Hepatic Adenomas, Familial.

Pathways for Hepatic Adenomas, Familial

Pathways related to Hepatic Adenomas, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 SLIT3 SLIT1
2 10.6 HNF4A HNF1A
3 9.53 HNF4A HNF1A

GO Terms for Hepatic Adenomas, Familial

Biological processes related to Hepatic Adenomas, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.56 SUPT3H RUNX2 HNF4A HNF1A
2 SMAD protein signal transduction GO:0060395 9.32 HNF4A HNF1A
3 negative chemotaxis GO:0050919 9.16 SLIT3 SLIT1
4 axon extension involved in axon guidance GO:0048846 8.96 SLIT3 SLIT1
5 chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration GO:0021834 8.62 SLIT3 SLIT1

Molecular functions related to Hepatic Adenomas, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 9.33 RUNX2 HNF4A HNF1A
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 RUNX2 HNF4A HNF1A CDC5L
3 Roundabout binding GO:0048495 8.62 SLIT3 SLIT1

Sources for Hepatic Adenomas, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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