HEPAF
MCID: HPT082
MIFTS: 51

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 73
Hepatic Adenoma, Somatic 57 13
Liver Cell Adenomas, Familial 57
Familial Liver Cell Adenomas 75
Hepatic Adenomas Familial 75
Hepatocellular Adenomas 75
Hepatocellular Adenoma 73
Adenoma Hepatocellular 55
Adenoma, Liver Cell 44
Hepaf 75
Ha 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hepatic adenomas, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 142330
MedGen 42 C1840646
MeSH 44 D018248

Summaries for Hepatic Adenomas, Familial

UniProtKB/Swiss-Prot : 75 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 endodermal sinus tumor and cervical squamous cell carcinoma. An important gene associated with Hepatic Adenomas, Familial is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include liver, ovary and brain, and related phenotypes are polycystic ovaries and hepatocellular adenoma

Description 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 5225)
# Related Disease Score Top Affiliating Genes
1 endodermal sinus tumor 30.8 GPC3 AFP
2 cervical squamous cell carcinoma 30.5 RASSF1 CTNNB1
3 lung cancer susceptibility 3 30.2 RASSF1 CTNNB1 APC
4 ovarian endodermal sinus tumor 30.0 GPC3 AFP
5 ovarian primitive germ cell tumor 30.0 GPC3 AFP
6 acinar cell carcinoma 30.0 CTNNB1 AFP
7 peutz-jeghers syndrome 29.7 CTNNB1 APC
8 hepatocellular carcinoma 29.3 TGFA RASSF1 HNF1A GPC3 G6PC CTNNB1
9 gastric cancer 29.2 TGFA CTNNB1 APC AFP
10 hepatoblastoma 29.1 GPC3 CTNNB1 APC AFP
11 hepatocellular adenoma 28.9 HNF1A G6PC CTNNB1
12 colorectal adenoma 28.8 CTNNB1 APC
13 fibromatosis 28.8 CTNNB1 APC
14 gastric adenocarcinoma 28.8 TGFA CTNNB1 APC AFP
15 cholangiocarcinoma 28.6 RASSF1 GPC3 CTNNB1 APC AFP
16 adamantinoma of long bones 28.6 RASSF1 CTNNB1 APC
17 hyperinsulinemic hypoglycemia, familial, 6 11.7
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.7
19 adie pupil 11.4
20 pallister-hall syndrome 11.3
21 aortic aneurysm 11.3
22 cataract 42 11.0
23 renal tubular acidosis, distal, with hemolytic anemia 11.0
24 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.0
25 hemiparkinsonism-hemiatrophy syndrome 11.0
26 hemidystonia-hemiatrophy syndrome 11.0
27 hinman syndrome 11.0
28 influenza 11.0
29 ebola hemorrhagic fever 10.9
30 herpes zoster 10.9
31 avian influenza 10.9
32 hepatitis c 10.9
33 crimean-congo hemorrhagic fever 10.9
34 human immunodeficiency virus infectious disease 10.9
35 swine influenza 10.9
36 hemorrhagic fever with renal syndrome 10.8
37 hepatitis e 10.8
38 hepatitis b 10.8
39 newcastle disease 10.8
40 poliomyelitis 10.8
41 rabies 10.8
42 japanese encephalitis 10.8
43 chickenpox 10.8
44 hepatitis a 10.8
45 typhoid fever 10.8
46 yellow fever 10.8
47 dengue disease 10.8
48 infant botulism 10.8
49 scrub typhus 10.8
50 spondyloarthropathy 1 10.8

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



Diseases related to Hepatic Adenomas, Familial

Symptoms & Phenotypes for Hepatic Adenomas, Familial

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

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

MGI Mouse Phenotypes related to Hepatic Adenomas, Familial:

46
# 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 AFP APC CTNNB1 G6PC GPC3 HNF1A
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 APC CTNNB1 G6PC GPC3 HNF1A TGFA

Drugs & Therapeutics for Hepatic Adenomas, Familial

Search Clinical Trials , 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, Brain, Kidney, Bone, Heart, T Cells

Publications for Hepatic Adenomas, Familial

Articles related to Hepatic Adenomas, Familial:

(show all 18)
# Title Authors Year
1
Focal β-catenin mutation identified on formalin-fixed and paraffin-embedded inflammatory hepatocellular adenomas. ( 28618047 )
2017
2
PET-avid hepatocellular adenomas: incidental findings associated with HNF1-I+ mutated lesions. ( 26776850 )
2016
3
Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease. ( 26697579 )
2015
4
Multiple hepatocellular adenomas presenting in a male 8 years post-pancreaticoduodenectomy for islet cell tumor of the pancreas. ( 25810673 )
2015
5
Hepatocellular nodules expressing markers of hepatocellular adenomas in Budd-Chiari syndrome and other rare hepatic vascular disorders. ( 26119687 )
2015
6
Congenital hepatic fibrosis with multiple HNF1I+ hepatocellular adenomas. ( 24981780 )
2014
7
Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I. ( 25308557 )
2014
8
Genomic profiling of hepatocellular adenomas reveals recurrent FRK-activating mutations and the mechanisms of malignant transformation. ( 24735922 )
2014
9
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. ( 23046672 )
2013
10
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. ( 21416130 )
2012
11
Somatic mutations activating STAT3 in human inflammatory hepatocellular adenomas. ( 21690253 )
2011
12
Loss of hepatocyte nuclear factor 1alpha function in human hepatocellular adenomas leads to aberrant activation of signaling pathways involved in tumorigenesis. ( 20041408 )
2010
13
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. ( 19762333 )
2009
14
Hepatocellular adenomas: magnetic resonance imaging features as a function of molecular pathological classification. ( 18688875 )
2008
15
Nuclear beta-catenin staining and absence of steatosis are indicators of hepatocellular adenomas with an increased risk of malignancy. ( 17903198 )
2007
16
Hepatic progenitor cells in hepatocellular adenomas. ( 11684955 )
2001
17
Multiple black hepatocellular adenomas in a male patient. ( 11111785 )
2000
18
Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. ( 9138172 )
1997

Variations for Hepatic Adenomas, Familial

ClinVar genetic disease variations for Hepatic Adenomas, Familial:

6
# 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
2 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh38 Chromosome 12, 120994322: 120994322

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:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 APC CTNNB1 G6PC TGFA
2 12.5 APC CTNNB1 RASSF1 TGFA
3
Show member pathways
12.18 APC CTNNB1 HNF1A
4 12.12 APC CTNNB1 HNF1A
5 11.95 AFP APC CTNNB1
6
Show member pathways
11.81 APC CTNNB1 GPC3
7 11.75 APC CTNNB1 HNF1A
8 11.7 AFP APC TGFA
9
Show member pathways
11.69 APC CTNNB1 HNF1A
10 11.6 APC CTNNB1 G6PC
11 11.33 APC CTNNB1 TGFA
12 11.32 APC CTNNB1
13 11.26 CTNNB1 G6PC
14 11.2 APC CTNNB1
15 11.11 AFP APC CTNNB1 RASSF1
16 11.1 APC CTNNB1 HNF1A
17 10.98 AFP G6PC HNF1A
18 10.9 APC CTNNB1
19 10.75 APC CTNNB1
20 10.61 APC CTNNB1 TGFA

GO Terms for Hepatic Adenomas, Familial

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

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

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 SMAD protein signal transduction GO:0060395 9.49 AFP HNF1A
2 branching involved in ureteric bud morphogenesis GO:0001658 9.48 CTNNB1 GPC3
3 regulation of cell differentiation GO:0045595 9.46 APC CTNNB1
4 regulation of canonical Wnt signaling pathway GO:0060828 9.43 CTNNB1 GPC3
5 osteoclast differentiation GO:0030316 9.4 CTNNB1 GPC3
6 embryonic hindlimb morphogenesis GO:0035116 9.37 CTNNB1 GPC3
7 pancreas development GO:0031016 9.32 CTNNB1 HNF1A
8 bone resorption GO:0045453 9.26 CTNNB1 HNF1A
9 beta-catenin destruction complex disassembly GO:1904886 9.16 APC CTNNB1
10 cell fate specification GO:0001708 8.96 APC CTNNB1
11 anterior/posterior axis specification GO:0009948 8.62 CTNNB1 GPC3

Sources for Hepatic Adenomas, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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