HEPAF
MCID: HPT082
MIFTS: 40

Hepatic Adenomas, Familial (HEPAF)

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Hepatic Adenomas, Familial

MalaCards integrated aliases for Hepatic Adenomas, Familial:

Name: Hepatic Adenomas, Familial 57 29 6 40 72
Hepatic Adenoma, Somatic 57 13
Liver Cell Adenomas, Familial 57
Familial Liver Cell Adenomas 74
Hepatic Adenomas Familial 74
Hepatocellular Adenomas 74
Hepatocellular Adenoma 72
Adenoma, Liver Cell 44
Hepaf 74
Ha 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hepatic adenomas, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 142330
MeSH 44 D018248
MedGen 42 C1840646
UMLS 72 C0206669 C1840646

Summaries for Hepatic Adenomas, Familial

UniProtKB/Swiss-Prot : 74 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 hepatic adenoma, somatic, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and hyperinsulinemic hypoglycemia, familial, 6. An important gene associated with Hepatic Adenomas, Familial is HNF1A (HNF1 Homeobox A). The drugs Sorafenib and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, ovary and kidney, and related phenotypes are polycystic ovaries and hepatocellular adenoma

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 6749)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
2 hyperinsulinemic hypoglycemia, familial, 6 11.9
3 tay-sachs disease 11.7
4 adie pupil 11.5
5 aortic aneurysm 11.5
6 pallister-hall syndrome 11.5
7 cataract 42 11.2
8 renal tubular acidosis, distal, with hemolytic anemia 11.2
9 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.2
10 hemiparkinsonism-hemiatrophy syndrome 11.2
11 hemidystonia-hemiatrophy syndrome 11.2
12 hinman syndrome 11.2
13 hepatitis c 11.1
14 avian influenza 11.1
15 influenza 11.1
16 ebola hemorrhagic fever 11.1
17 herpes zoster 11.0
18 toxic shock syndrome 11.0
19 korean hemorrhagic fever 11.0
20 poliomyelitis 11.0
21 hepatitis b 11.0
22 swine influenza 11.0
23 hepatitis e 11.0
24 hepatitis d 11.0
25 human immunodeficiency virus infectious disease 11.0
26 crimean-congo hemorrhagic fever 11.0
27 hepatitis a 11.0
28 rabies 11.0
29 newcastle disease 11.0
30 early congenital syphilis 11.0
31 hemorrhagic fever with renal syndrome 11.0
32 chickenpox 11.0
33 human immunodeficiency virus type 1 11.0
34 yellow fever 11.0
35 spondyloarthropathy 1 11.0
36 measles 10.9
37 pulmonary tuberculosis 10.9
38 melanoma 10.9
39 dengue disease 10.9
40 japanese encephalitis 10.9
41 hypertension, essential 10.9
42 vaccinia 10.9
43 lung cancer 10.9
44 typhoid fever 10.9
45 rubella 10.9
46 glanders 10.9
47 herpes simplex 10.9
48 listeriosis 10.9
49 mumps 10.9
50 q fever 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:

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

Symptoms via clinical synopsis from OMIM:

57
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 8)
# 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 Antibodies Phase 1, Phase 2
4 Immunologic Factors Phase 1, Phase 2
5 Protein Kinase Inhibitors Phase 1, Phase 2
6 Antibodies, Monoclonal Phase 1, Phase 2
7 Immunoglobulins Phase 1, Phase 2
8 Hematinics

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)

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:

41
Liver, Ovary, Kidney, Pancreatic Islet, Lung, Thyroid, Testes

Publications for Hepatic Adenomas, Familial

Articles related to Hepatic Adenomas, Familial:

(show top 50) (show all 764)
# Title Authors PMID Year
1
Bi-allelic inactivation of TCF1 in hepatic adenomas. 8 71
12355088 2002
2
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 71
15649945 2005
3
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 71
12574234 2003
4
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 71
11058894 2000
5
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. 71
9439666 1997
6
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 71
9313763 1997
7
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 71
9032114 1997
8
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) 71
8945470 1996
9
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. 71
8866553 1996
10
Familial liver-cell adenomas and diabetes mellitus. 8
207987 1978
11
Safety and efficacy of transarterial embolization of hepatocellular adenomas. 38
31313827 2019
12
Differentiation of hypervascular primary hepatic tumors showing hepatobiliary hypointensity on gadoxetic acid-enhanced magnetic resonance imaging. 38
31134313 2019
13
Natural history of liver adenomatosis: a long-term observational study. 38
31419515 2019
14
Development and Validation of a Model to Predict Regression of Large Size Hepatocellular Adenoma. 38
30920416 2019
15
A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia. 38
31337282 2019
16
Hepatocellular adenomas: Understanding the pathomolecular lexicon, MRI features, terminology, and pitfalls to inform a standardized approach. 38
31418986 2019
17
Case of resected multiple hepatocellular adenomas in a young man with severe obesity. 38
31410698 2019
18
Hepatocellular adenomas: one step beyond. 38
30967413 2019
19
Iso- or hyperintensity of hepatocellular adenomas on hepatobiliary phase does not always correspond to hepatospecific contrast-agent uptake: importance for tumor subtyping. 38
30937584 2019
20
Acute psychosis in glycogen storage disease: a rare but severe complication. 38
31272990 2019
21
RSPO2 gene rearrangement: a powerful driver of β-catenin activation in liver tumours. 38
30901310 2019
22
Ccne1 Overexpression Causes Chromosome Instability in Liver Cells and Liver Tumor Development in Mice. 38
30878468 2019
23
CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. 38
30951856 2019
24
The effect of oral contraceptive pill cessation on hepatocellular adenoma diameter: A retrospective cohort study. 38
30773766 2019
25
Focal liver lesions following Fontan palliation of single ventricle physiology: A radiology-pathology case series. 38
30569564 2019
26
Lessons learnt from pathologic imaging correlation in the liver: an historical perspective. 38
30604641 2019
27
Hepatic CYP1A2 activity in liver tumors and the implications for preoperative volume-function analysis. 38
30869529 2019
28
New MRI features improve subtype classification of hepatocellular adenoma. 38
30523457 2019
29
Does Argininosuccinate Synthase 1 (ASS1) Immunohistochemistry Predict an Increased Risk of Hemorrhage for Hepatocellular Adenomas? 38
31135443 2019
30
Unclassified hepatocellular adenoma expressing ASS1 associated with inflammatory hepatocellular adenomas. 38
31047837 2019
31
Characterization of high- and low-risk hepatocellular adenomas by magnetic resonance imaging in an animal model of glycogen storage disease type 1A. 38
30898969 2019
32
Snapshot summary of diagnosis and management of hepatocellular adenoma subtypes. 38
30213653 2019
33
Update on the pathology of liver neoplasms. 38
30597357 2019
34
A case of hepatocellular carcinoma mimicking hepatic adenoma. 38
30837351 2019
35
Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA. 38
30121369 2019
36
[Hepatocellular carcinoma in an inflammatory adenoma with β-catenin mutation in a patient with hepatocellular adenomatosis due to germline mutation in HNF1α]. 38
30641602 2019
37
Hepatic stress associated with pathologies characterized by disturbed glucose production. 38
31225503 2019
38
Chronic dietary toxicity and carcinogenicity studies of dammar resin in F344 rats. 38
30251054 2018
39
Regression of hepatocellular adenoma after bariatric surgery in severe obese patients. 38
30025198 2018
40
Benign liver tumors 38
30869222 2018
41
Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis. 38
31208638 2018
42
Development and characterization of an inducible mouse model for glycogen storage disease type Ib. 38
29967951 2018
43
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. 38
30043186 2018
44
Dietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia. 38
30193922 2018
45
Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis. 38
30600303 2018
46
Subclassification of hepatocellular adenomas: practical considerations in the implementation of the Bordeaux criteria. 38
30149989 2018
47
Argininosuccinate synthase 1 and periportal gene expression in sonic hedgehog hepatocellular adenomas. 38
29572896 2018
48
Ectopic Liver Within the Placental Parenchyma of a Stillborn Fetus. 38
28593805 2018
49
Benign and malignant hepatocellular lesions in patients with vascular liver diseases. 38
29460040 2018
50
Human relevance of rodent liver tumour formation by constitutive androstane receptor (CAR) activators. 38
30090615 2018

Variations for Hepatic Adenomas, Familial

ClinVar genetic disease variations for Hepatic Adenomas, Familial:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs1555212014 12:121432067-121432067 12:120994264-120994264
2 HNF1A NM_000545.6(HNF1A): c.872dup (p.Gly292fs) duplication Pathogenic rs587776825 12:121432125-121432125 12:120994322-120994322
3 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 12:121435307-121435307 12:120997504-120997504
4 HNF1A NM_000545.6(HNF1A): c.1135C> G (p.Pro379Ala) single nucleotide variant Pathogenic/Likely pathogenic rs754729248 12:121434371-121434371 12:120996568-120996568
5 HNF1A NM_000545.6(HNF1A): c.1501+6C> T single nucleotide variant Uncertain significance rs374306837 12:121435474-121435474 12:120997671-120997671
6 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 12:121416663-121416663 12:120978860-120978860

Expression for Hepatic Adenomas, Familial

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

Pathways for Hepatic Adenomas, Familial

GO Terms for Hepatic Adenomas, Familial

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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