MCID: HPT082
MIFTS: 53

Hepatic Adenomas, Familial

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 hepatocellular adenoma 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 bone marrow, and related phenotypes are polycystic ovaries and maturity-onset diabetes of the young

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 3860)
# Related Disease Score Top Affiliating Genes
1 hepatocellular adenoma 33.8 CTNNB1 G6PC HNF1A
2 cervical squamous cell carcinoma 30.2 CTNNB1 RASSF1
3 acinar cell carcinoma 29.8 AFP CTNNB1
4 lung cancer susceptibility 3 29.3 APC CTNNB1 RASSF1
5 cholangiocarcinoma 29.1 AFP CTNNB1 GPC3 RASSF1
6 peutz-jeghers syndrome 29.0 APC CTNNB1
7 thyroid cancer 28.4 APC CTNNB1 RASSF1
8 hepatocellular carcinoma 26.4 AFP APC CTNNB1 GPC3 HNF1A RASSF1
9 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.5
10 hyperinsulinemic hypoglycemia, familial, 6 11.3
11 adie pupil 11.2
12 aortic aneurysm 11.2
13 cataract 42 10.9
14 renal tubular acidosis, distal, with hemolytic anemia 10.9
15 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.9
16 hemiparkinsonism-hemiatrophy syndrome 10.9
17 hemidystonia-hemiatrophy syndrome 10.9
18 hinman syndrome 10.9
19 influenza 10.8
20 avian influenza 10.8
21 hepatitis c 10.8
22 crimean-congo hemorrhagic fever 10.7
23 swine influenza 10.7
24 hemorrhagic fever with renal syndrome 10.7
25 newcastle disease 10.7
26 hepatitis e 10.7
27 poliomyelitis 10.7
28 hepatitis b 10.7
29 chickenpox 10.7
30 japanese encephalitis 10.7
31 hepatitis a 10.7
32 yellow fever 10.7
33 dengue disease 10.7
34 infant botulism 10.7
35 scrub typhus 10.7
36 genital herpes 10.6
37 melanoma 10.6
38 mumps 10.6
39 hand, foot and mouth disease 10.6
40 listeriosis 10.6
41 rift valley fever 10.6
42 spondyloarthropathy 1 10.6
43 rubella 10.6
44 q fever 10.6
45 vaccinia 10.6
46 adenocarcinoma 10.6
47 brucellosis 10.6
48 bronchiolitis 10.6
49 venezuelan equine encephalitis 10.6
50 asthma 10.6

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
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 Adenomas, Familial:

32
# 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 Adenomas, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.98 HNF1A CTNNB1 RASSF1 G6PC AFP GPC3
2 digestive/alimentary MP:0005381 9.95 CTNNB1 RASSF1 TGFA GPC3 APC HNF1A
3 endocrine/exocrine gland MP:0005379 9.93 CTNNB1 RASSF1 AFP APC HNF1A TGFA
4 mortality/aging MP:0010768 9.87 HNF1A CTNNB1 RASSF1 G6PC AFP GPC3
5 liver/biliary system MP:0005370 9.85 CTNNB1 RASSF1 G6PC AFP APC HNF1A
6 integument MP:0010771 9.8 APC HNF1A CTNNB1 GPC3 TGFA
7 neoplasm MP:0002006 9.65 CTNNB1 RASSF1 G6PC AFP APC
8 renal/urinary system MP:0005367 9.55 HNF1A CTNNB1 G6PC GPC3 APC
9 reproductive system MP:0005389 9.43 CTNNB1 TGFA AFP GPC3 APC HNF1A
10 skeleton MP:0005390 9.1 CTNNB1 G6PC GPC3 APC 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, Bone Marrow, Placenta, Bone, Testes, Pancreas

Publications for Hepatic Adenomas, Familial

Articles related to Hepatic Adenomas, Familial:

(show top 50) (show all 279)
# Title Authors Year
1
Unclassified hepatocellular adenoma in a middle-aged woman with glucose intolerance. ( 29116626 )
2018
2
Can point shear wave elastography differentiate focal nodular hyperplasia from hepatocellular adenoma. ( 29740826 )
2018
3
Hepatocellular adenoma in a woman who was undergoing testosterone treatment for gender identity disorder. ( 29589251 )
2018
4
Molecular classification of hepatocellular adenoma in clinical practice. ( 28733222 )
2017
5
Intravoxel incoherent motion and dynamic contrast-enhanced MRI for differentiation between hepatocellular adenoma and focal nodular hyperplasia. ( 28590780 )
2017
6
Quantitative analysis Of hepatocellular adenoma and focal nodular hyperplasia in the hepatobiliary phase: External validation of LLCER method using gadobenate dimeglumine as contrast agent. ( 28589549 )
2017
7
Screening the key genes of hepatocellular adenoma via microarray analysis of DNA expression and methylation profiles. ( 28943905 )
2017
8
A cost-effectiveness analysis of the diagnostic strategies for differentiating focal nodular hyperplasia from hepatocellular adenoma. ( 28726119 )
2017
9
Unexpected discovery of small HNF1I+-inactivated hepatocellular adenoma in pathological specimens from patients resected for liver tumours. ( 29265678 )
2017
10
Polymorphic multiple hepatocellular adenoma including a non-steatotic HNF1I+-inactivated variant. ( 28992889 )
2017
11
Copper deposition in focal nodular hyperplasia and inflammatory hepatocellular adenoma. ( 29127141 )
2017
12
Management and outcome of hepatocellular adenoma with massive bleeding at presentation. ( 28740346 )
2017
13
Hepatocellular adenoma: Classification, variants and clinical relevance. ( 28131467 )
2017
14
Retrospective study on timing of resection of hepatocellular adenoma. ( 28857134 )
2017
15
Laparoscopic liver resection for hemorrhagic hepatocellular adenoma in a pregnant patient. ( 28982300 )
2017
16
Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination. ( 28323122 )
2017
17
Short-term outcomes of laparoscopic vs. open liver resection for hepatocellular adenoma: a multicenter propensity score adjustment analysis by the AFC-HCA-2013 study group. ( 28281121 )
2017
18
Argininosuccinate synthase 1 (ASS1): A marker of unclassified hepatocellular adenoma and high bleeding risk. ( 28646562 )
2017
19
Malignant potential of hepatocellular adenoma. ( 28635168 )
2017
20
Hepatocellular Carcinoma Arising in a Huge Hepatocellular Adenoma with Bone Marrow Metaplasia. ( 29281780 )
2017
21
Inflammatory and multiple hepatocellular adenoma are associated with a higher BMI. ( 28704224 )
2017
22
Correction to: Differentiating focal nodular hyperplasia from hepatocellular adenoma: Is hepatobiliary phase MRI (HBP-MRI) using linear gadolinium chelates always useful? ( 29230554 )
2017
23
Hepatocellular adenoma in a European flatfish (Limanda limanda): Genetic alterations in laser-capture micro-dissected tissue and global transcriptomic approach. ( 28473212 )
2017
24
Expression of c-MET Protein in Various Subtypes of Hepatocellular Adenoma Compared to Hepatocellular Carcinoma and Non-Neoplastic Liver in Human Tissue. ( 29256857 )
2017
25
Diagnostic Value of Gd-EOB-DTPA-MRI for Hepatocellular Adenoma: A Meta-Analysis. ( 28607606 )
2017
26
Differentiating focal nodular hyperplasia from hepatocellular adenoma: Is hepatobiliary phase MRI (HBP-MRI) using linear gadolinium chelates always useful? ( 29110059 )
2017
27
Men with biopsy-confirmed hepatocellular adenoma have a high risk of progression to hepatocellular carcinoma: AA nationwide population-based study. ( 28317318 )
2017
28
Response to "Quantitative analysis of hepatocellular adenoma and focal nodular hyperplasia in the hepatobiliary phase: External validation of llcer method using gadobenate dimeglumine as contrast agent". ( 28580722 )
2017
29
Systematic review: benefits and harms of transarterial embolisation for treating hepatocellular adenoma. ( 28318052 )
2017
30
Hepatocellular adenoma with severe fatty change in a male Spontaneously Diabetic Torii rat. ( 28190927 )
2017
31
Hepatocellular adenoma among adult survivors of childhood and young adult cancer. ( 27781382 )
2016
32
Malignant Transformation of Hepatocellular Adenoma. ( 27988517 )
2016
33
Hepatocellular adenoma with malignant transformation in a patient with neonatal portal vein thrombosis. ( 27042773 )
2016
34
European experience of 573 liver resections for hepatocellular adenoma: a cross-sectional study by the AFC-HCA-2013 study group. ( 27593592 )
2016
35
Hepatocellular adenoma: when and how to treat? Update of current evidence. ( 27803743 )
2016
36
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
37
Hepatocellular adenoma: comparison between real-time contrast-enhanced ultrasound and dynamic computed tomography. ( 27386395 )
2016
38
Ultrasound features of hepatocellular adenoma and the additional value of contrast-enhanced ultrasound. ( 26818543 )
2016
39
PET-avid hepatocellular adenomas: incidental findings associated with HNF1-I+ mutated lesions. ( 26776850 )
2016
40
Distinction Between Inflammatory Hepatocellular Adenoma and Mass Effect on Liver Sampling. ( 27989788 )
2016
41
Evidence of good prognosis of hepatocellular adenoma in post-menopausal women. ( 27524464 )
2016
42
Contrast-enhanced ultrasonographic findings of serum amyloid A-positive hepatocellular neoplasm: Does hepatocellular adenoma arise in cirrhotic liver? ( 27660679 )
2016
43
Hepatocellular Adenoma of the Placenta With Updated Immunohistochemical and Molecular Markers: A Case Report. ( 27106781 )
2016
44
Hepatocellular adenoma classification: a comparative evaluation of immunohistochemistry and targeted mutational analysis. ( 26961851 )
2016
45
Combined use of heat-shock protein 70 and glutamine synthetase is useful in the distinction of typical hepatocellular adenoma from atypical hepatocellular neoplasms and well-differentiated hepatocellular carcinoma. ( 26769138 )
2016
46
Molecular Classification of Hepatocellular Adenoma Associates With Risk Factors, Bleeding, and Malignant Transformation. ( 27939373 )
2016
47
Benign hepatocellular nodules of healthy liver: focal nodular hyperplasia and hepatocellular adenoma. ( 27189732 )
2016
48
Hepatoblastoma Arising in a Pigmented I^-catenin-activated Hepatocellular Adenoma: Case Report and Review of the Literature. ( 27096257 )
2016
49
Outcomes of liver resection for haemorrhagic hepatocellular adenoma. ( 26805568 )
2016
50
Touch cytology smear of an inflammatory hepatocellular adenoma displaying an unusual pattern: A case report. ( 27434199 )
2016

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 APC CTNNB1 G6PC TGFA
2 12.5 APC CTNNB1 RASSF1 TGFA
3
Show member pathways
12.17 APC CTNNB1 HNF1A
4 11.95 AFP APC CTNNB1
5
Show member pathways
11.81 APC CTNNB1 GPC3
6 11.75 APC CTNNB1 HNF1A
7 11.7 AFP APC TGFA
8
Show member pathways
11.69 APC CTNNB1 HNF1A
9 11.6 APC CTNNB1 G6PC
10 11.44 AFP APC CTNNB1 RASSF1
11 11.33 APC CTNNB1 TGFA
12 11.3 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 10.75 APC CTNNB1
19 10.28 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:

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.65 APC CTNNB1 TGFA
2 SMAD protein signal transduction GO:0060395 9.46 AFP HNF1A
3 branching involved in ureteric bud morphogenesis GO:0001658 9.43 CTNNB1 GPC3
4 regulation of cell differentiation GO:0045595 9.4 APC CTNNB1
5 osteoclast differentiation GO:0030316 9.37 CTNNB1 GPC3
6 embryonic hindlimb morphogenesis GO:0035116 9.32 CTNNB1 GPC3
7 bone resorption GO:0045453 9.26 CTNNB1 HNF1A
8 beta-catenin destruction complex disassembly GO:1904886 9.16 APC CTNNB1
9 cell fate specification GO:0001708 8.96 APC CTNNB1
10 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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