HEPAF
MCID: HPT082
MIFTS: 44

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 56 29 6 39 71
Familial Liver Cell Adenomas 12 73
Hepatic Adenoma, Somatic 56 13
Familial Hepatic Adenoma 12 15
Liver Cell Adenomas, Familial 56
Hepatic Adenomas Familial 73
Hepatocellular Adenomas 73
Hepatocellular Adenoma 71
Adenoma, Liver Cell 43
Hepaf 73
Ha 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hepatic adenomas, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111366
OMIM 56 142330
MeSH 43 D018248
MedGen 41 C1840646
UMLS 71 C0206669 C1840646

Summaries for Hepatic Adenomas, Familial

UniProtKB/Swiss-Prot : 73 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 maturity-onset diabetes of the young, type 2 and renal cysts and diabetes syndrome. 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 and ovary, 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 7327)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 2 30.9 HNF4A HNF1A
2 renal cysts and diabetes syndrome 30.8 HNF4A HNF1A
3 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 30.2 HNF4A HNF1A
4 maturity-onset diabetes of the young, type 1 30.2 HNF4A HNF1A
5 maturity-onset diabetes of the young, type 13 30.2 HNF4A HNF1A
6 maturity-onset diabetes of the young, type 6 30.2 HNF4A HNF1A
7 maturity-onset diabetes of the young, type 4 30.2 HNF4A HNF1A
8 maturity-onset diabetes of the young, type 3 30.0 HNF4A HNF1A
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 29.7 RUNX2 HNF4A HNF1A
10 aminoaciduria 29.0 HNF4A HNF1A
11 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
12 hyperinsulinemic hypoglycemia, familial, 6 11.9
13 tay-sachs disease 11.7
14 adie pupil 11.5
15 aortic aneurysm 11.5
16 pallister-hall syndrome 11.5
17 cataract 42 11.2
18 renal tubular acidosis, distal, with hemolytic anemia 11.2
19 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.2
20 hemiparkinsonism-hemiatrophy syndrome 11.2
21 hemidystonia-hemiatrophy syndrome 11.2
22 hinman syndrome 11.2
23 hepatitis c 11.1
24 avian influenza 11.1
25 influenza 11.1
26 ebola hemorrhagic fever 11.0
27 herpes zoster 11.0
28 toxic shock syndrome 11.0
29 poliomyelitis 11.0
30 korean hemorrhagic fever 11.0
31 hepatitis b 11.0
32 swine influenza 11.0
33 hepatitis e 11.0
34 human immunodeficiency virus infectious disease 11.0
35 hepatitis a 11.0
36 hepatitis d 11.0
37 crimean-congo hemorrhagic fever 10.9
38 rabies 10.9
39 newcastle disease 10.9
40 human immunodeficiency virus type 1 10.9
41 early congenital syphilis 10.9
42 hantavirus hemorrhagic fever with renal syndrome 10.9
43 chickenpox 10.9
44 melanoma 10.9
45 yellow fever 10.9
46 spondyloarthropathy 1 10.9
47 severe acute respiratory syndrome 10.9
48 measles 10.9
49 pulmonary tuberculosis 10.9
50 dengue disease 10.9

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:

56
G I:
liver-cell adenomas

G U:
sclerocystic ovaries

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

Clinical features from OMIM:

142330

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 1, Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Protein Kinase Inhibitors Phase 1, Phase 2
5 Antibodies Phase 1, Phase 2
6 Antibodies, Monoclonal 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
3 Phase I Study of TTI-101, an Oral Inhibitor of Signal Transducer and Activator of Transcription (STAT) 3, in Patients With Advanced Cancers Recruiting NCT03195699 Phase 1 TTI-101
4 An Observational Study of the Administration of Eovist/Primovist in Pediatric Subjects (> 2 Months and Less Than 18 Years) Who Are Referred for a Routine Contrast Enhanced Liver MRI Because of Suspected or Known Focal Liver Lesions Completed NCT01043523 Gadoxetic Acid Disodium (Eovist, BAY86-4873)
5 Preoperative Evaluation of the Remaining Part of the Liver for Liver Resection Not yet recruiting NCT04100304

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, Ovary

Publications for Hepatic Adenomas, Familial

Articles related to Hepatic Adenomas, Familial:

# Title Authors PMID Year
1
Bi-allelic inactivation of TCF1 in hepatic adenomas. 56 6
12355088 2002
2
Familial liver-cell adenomas and diabetes mellitus. 56 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 GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)SNV Pathogenic 447503 rs1555212014 12:121432067-121432067 12:120994264-120994264
2 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs)duplication Pathogenic 14927 rs587776825 12:121432117-121432118 12:120994314-120994315
3 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504
4 HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp)SNV Conflicting interpretations of pathogenicity 14948 rs137853247 12:121416663-121416663 12:120978860-120978860
5 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala)SNV Conflicting interpretations of pathogenicity 431970 rs754729248 12:121434371-121434371 12:120996568-120996568
6 HNF1A NM_000545.6(HNF1A):c.1501+6C>TSNV Conflicting interpretations of pathogenicity 435420 rs374306837 12:121435474-121435474 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 9.62 SUPT3H RUNX2 HNF4A HNF1A
2 negative regulation of MAP kinase activity GO:0043407 9.26 PTPN1 MIR218-1
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 DNA binding GO:0044212 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
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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