HEPAF
MCID: HPT074
MIFTS: 50

Hepatic Adenoma, Somatic (HEPAF) malady

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Hepatic Adenoma, Somatic

Aliases & Descriptions for Hepatic Adenoma, Somatic:

Name: Hepatic Adenoma, Somatic 54 24 13
Hepatic Adenomas, Familial 24 69
Hepatic Adenomas Familial 66 29
Familial Liver Cell Adenomas 66
Hepatocellular Adenomas 66
Hepatocellular Adenoma 69
Adenoma Hepatocellular 52
Adenoma, Liver Cell 42
Hepaf 66
Ha 66

Characteristics:

HPO:

32
hepatic adenoma, somatic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 142330
MedGen 40 C1840646
MeSH 42 D018248

Summaries for Hepatic Adenoma, Somatic

UniProtKB/Swiss-Prot : 66 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 Adenoma, Somatic, also known as hepatic adenomas, familial, is related to focal epithelial hyperplasia and glycogen storage disease, and has symptoms including polycystic ovaries, maturity-onset diabetes of the young and hepatocellular adenoma. An important gene associated with Hepatic Adenoma, Somatic is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Glioma and Pathways in cancer. The drugs Erythromycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and ovary, and related phenotypes are homeostasis/metabolism and digestive/alimentary

Description from OMIM: 142330

Related Diseases for Hepatic Adenoma, Somatic

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

(show top 50) (show all 3630)
id Related Disease Score Top Affiliating Genes
1 focal epithelial hyperplasia 29.9 AFP GPC3
2 glycogen storage disease 29.9 AFP APC CTNNB1
3 fitz-hugh-curtis syndrome 29.6 APC CTNNB1
4 proctitis 29.0 AFP CTNNB1 GPC3
5 ideomotor apraxia 28.5 APC CTNNB1
6 cardiomyopathy, dilated, 1h 28.4 AFP APC CTNNB1 G6PC GPC3 HNF1A
7 hyperinsulinism-hyperammonemia syndrome 11.2
8 adie pupil 11.1
9 aortic aneurysm 11.0
10 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
11 influenza 10.8
12 hemiparkinsonism-hemiatrophy syndrome 10.7
13 hemidystonia-hemiatrophy syndrome 10.7
14 hinman syndrome 10.7
15 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.7
16 achromatopsia-4 10.7
17 renal tubular acidosis, distal, ar 10.7
18 cataract 42 10.7
19 avian influenza 10.7
20 hepatitis c 10.7
21 hemorrhagic fever with renal syndrome 10.7
22 swine influenza 10.7
23 newcastle disease 10.7
24 poliomyelitis 10.7
25 hepatitis e 10.7
26 hepatitis b 10.6
27 hepatitis a 10.6
28 japanese encephalitis 10.6
29 chickenpox 10.6
30 yellow fever 10.6
31 scrub typhus 10.6
32 genital herpes 10.6
33 listeriosis 10.6
34 rift valley fever 10.6
35 mumps 10.6
36 rubella 10.6
37 melanoma 10.6
38 q fever 10.6
39 vaccinia 10.6
40 venezuelan equine encephalitis 10.6
41 asthma 10.6
42 appendicitis 10.6
43 measles 10.6
44 breast cancer 10.5
45 spotted fever 10.5
46 adenocarcinoma 10.5
47 tropical spastic paraparesis 10.5
48 tabes dorsalis 10.5
49 lyme disease 10.5
50 leptospirosis 10.5

Graphical network of the top 20 diseases related to Hepatic Adenoma, Somatic:



Diseases related to Hepatic Adenoma, Somatic

Symptoms & Phenotypes for Hepatic Adenoma, Somatic

Symptoms by clinical synopsis from OMIM:

142330

Clinical features from OMIM:

142330

Human phenotypes related to Hepatic Adenoma, Somatic:

32
id 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 Adenoma, Somatic:

44
id 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 APC CTNNB1 HNF1A RASSF1 TGFA AFP
4 mortality/aging MP:0010768 9.87 HNF1A RASSF1 AFP APC CTNNB1 G6PC
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 Adenoma, Somatic

Drugs for Hepatic Adenoma, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 112)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
3 Anti-Infective Agents Phase 4,Phase 2
4 Erythromycin Estolate Phase 4
5 Erythromycin Ethylsuccinate Phase 4
6 Erythromycin stearate Phase 4
7 Gastrointestinal Agents Phase 4,Phase 2
8 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
9 pancreatic polypeptide Phase 4,Phase 2
10 Cola Nutraceutical Phase 2, Phase 3,Phase 1
11 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
12
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
13
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
14
Melphalan Approved Phase 2 148-82-3 4053 460612
15
Tamoxifen Approved Phase 2 10540-29-1 2733526
16
Everolimus Approved Phase 2 159351-69-6 6442177
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
19
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
20
Bevacizumab Approved, Investigational Phase 2 216974-75-3
21
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
23
Celecoxib Approved, Investigational Phase 1, Phase 2 169590-42-5 2662
24
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
25
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
27
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
28
Nicotinamide Approved, Nutraceutical Phase 1, Phase 2 98-92-0 936
29
Doxil Approved June 1999 Phase 2 31703
30 Antibiotics, Antitubercular Phase 2,Phase 1
31 Topoisomerase Inhibitors Phase 2
32 Protective Agents Phase 2
33 Alkylating Agents Phase 2,Phase 1
34 Antineoplastic Agents, Alkylating Phase 2,Phase 1
35 Immunosuppressive Agents Phase 2,Phase 1
36 Antineoplastic Agents, Hormonal Phase 2
37 Bone Density Conservation Agents Phase 2
38 Estrogen Antagonists Phase 2
39 Estrogen Receptor Modulators Phase 2
40 Estrogens Phase 2
41 Hormone Antagonists Phase 2
42 Hormones Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
44 Selective Estrogen Receptor Modulators Phase 2
45 Protein Kinase Inhibitors Phase 1, Phase 2
46 Angiogenesis Inhibitors Phase 2,Phase 1
47 Angiogenesis Modulating Agents Phase 2,Phase 1
48 Vaccines Phase 1, Phase 2
49 Vitamin B Complex Phase 1, Phase 2
50 Antifungal Agents Phase 2

Interventional clinical trials:

(show all 31)
id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
2 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
3 Effect of 2 Doses of EPA on Apoptosis and Cell Proliferation on Colon Mucosa Completed NCT00432913 Phase 2, Phase 3
4 Early Palliative Care in Advanced Lung and Gastrointestinal Malignancies Active, not recruiting NCT01401907 Phase 3
5 Early Palliative Care With Standard Care or Standard Care Alone in Improving Quality of Life of Patients With Incurable Lung or Non-colorectal Gastrointestinal Cancer and Their Family Caregivers Active, not recruiting NCT02349412 Phase 3
6 Isolated Hepatic Perfusion With Melphalan in Treating Patients With Primary Unresectable Liver Cancer or Liver Metastases Completed NCT00019786 Phase 2
7 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2
8 Internal Radiation Therapy for Hepatocellular Carcinomas With Therasphere: Optimized Dosimetry Versus Standard Dosimetry Recruiting NCT02582034 Phase 2
9 Sorafenib and TRC105 in Hepatocellular Cancer Active, not recruiting NCT01306058 Phase 1, Phase 2
10 Temsirolimus and Bevacizumab in Treating Patients With Advanced Endometrial, Ovarian, Liver, Carcinoid, or Islet Cell Cancer Active, not recruiting NCT01010126 Phase 2
11 Continuous 24h Intravenous Infusion of Mithramycin, an Inhibitor of Cancer Stem Cell Signaling, in People With Primary Thoracic Malignancies or Carcinomas, Sarcomas or Germ Cell Neoplasms With Pleuropulmonary Metastases Not yet recruiting NCT02859415 Phase 1, Phase 2
12 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Not yet recruiting NCT03111810 Phase 2
13 Adjuvant Tumor Lysate Vaccine and Iscomatrix With or Without Metronomic Oral Cyclophosphamide and Celecoxib in Patients With Malignancies Involving Lungs, Esophagus, Pleura, or Mediastinum Suspended NCT02054104 Phase 1, Phase 2
14 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2
15 Everolimus in Patients With Pancreatic Neuroendocrine Tumors Metastatic to the Liver Previously Treated With Surgery Terminated NCT02031536 Phase 2
16 Intrapleural BG00001 in Treating Patients With Malignant Pleural Mesothelioma or Malignant Pleural Effusions Unknown status NCT00066404 Phase 1
17 Erlotinib in Treating Patients With Solid Tumors and Liver or Kidney Dysfunction Completed NCT00030498 Phase 1
18 Interleukin-12 and Trastuzumab in Treating Patients With Cancer That Has High Levels of HER2/Neu Completed NCT00004074 Phase 1
19 Safety and Immune Response to a Multi-component Immune Based Therapy (MKC1106-PP) for Patients With Advanced Cancer. Completed NCT00423254 Phase 1
20 Ph 1 Study in Subjects With Tumors Requiring Arginine to Assess ADI-PEG 20 With Pemetrexed and Cisplatin Recruiting NCT02029690 Phase 1
21 CBT-501 Study for Select Advanced or Relapsed/Recurrent Solid Tumors Recruiting NCT03053466 Phase 1
22 Talazoparib in Treating Patients With Advanced or Metastatic Solid Tumors That Cannot Be Removed by Surgery and Liver or Kidney Dysfunction Withdrawn NCT02567396 Phase 1
23 Doxorubicin Beads in Treating Patients With Unresectable Liver Metastases From Neuroendocrine Tumors Unknown status NCT00730483
24 N-AcetylCysteine vs. Placebo to Prevent Neurotoxicity Induced by Platinum Containing Chemotherapy Unknown status NCT00637624
25 Liver MRI With Primovist/Eovist in Pediatric Subjects Who Are Suspected or Have Focal Liver Lesions. Completed NCT01043523
26 Laparoscopy to Remove Pancreatic Tumors (Insulinomas) Completed NCT00005910
27 A Continuation Study Using Sunitinib Malate For Patients Leaving Treatment On A Previous Sunitinib Study. Completed NCT00428220
28 Potential Molecular Predictors of Response to Novel Therapies in Metastatic Pancreatic Neuroendocrine Tumors Recruiting NCT01603004
29 Prospective Longitudinal Biomarker Study in Pancreatic Neuroendocrine Tumours Recruiting NCT03130205
30 Tissue Procurement for Gastric Cancer, Gastrointestinal Stromal Tumors (GIST), Esophageal Cancer, Pancreas Cancer, Hepatocellular Cancer, Biliary Cancer, Neuroendocrine, Peritoneal Mesothelioma, Anal Cancer and Colorectal Cancer in Patients Undergoing Sur Recruiting NCT01416714
31 Integrated Cancer Repository for Cancer Research Recruiting NCT02012699

Search NIH Clinical Center for Hepatic Adenoma, Somatic

Cochrane evidence based reviews: adenoma, liver cell

Genetic Tests for Hepatic Adenoma, Somatic

Genetic tests related to Hepatic Adenoma, Somatic:

id Genetic test Affiliating Genes
1 Hepatic Adenomas, Familial 29
2 Hepatic Adenoma, Somatic 24 HNF1A

Anatomical Context for Hepatic Adenoma, Somatic

MalaCards organs/tissues related to Hepatic Adenoma, Somatic:

39
Liver, Ovary

Publications for Hepatic Adenoma, Somatic

Variations for Hepatic Adenoma, Somatic

ClinVar genetic disease variations for Hepatic Adenoma, Somatic:

6
id 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

Expression for Hepatic Adenoma, Somatic

Search GEO for disease gene expression data for Hepatic Adenoma, Somatic.

Pathways for Hepatic Adenoma, Somatic

Pathways related to Hepatic Adenoma, Somatic according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 APC CTNNB1 RASSF1 TGFA
2 12.27 APC CTNNB1 RASSF1 TGFA
3
Show member pathways
12.17 APC CTNNB1 HNF1A
4 12.13 APC CTNNB1 HNF1A
5 11.94 AFP APC CTNNB1
6
Show member pathways
11.9 APC CTNNB1 GPC3
7 11.78 APC CTNNB1 HNF1A
8 11.73 AFP APC TGFA
9 11.64 APC CTNNB1 G6PC
10 11.44 AFP APC CTNNB1 RASSF1
11 11.33 APC CTNNB1 TGFA
12 11.31 APC CTNNB1
13 11.26 CTNNB1 G6PC
14 11.2 APC CTNNB1
15 11.1 APC CTNNB1 HNF1A
16 10.98 AFP G6PC HNF1A
17 10.9 APC CTNNB1
18 10.73 APC CTNNB1
19 10.28 APC CTNNB1 TGFA

GO Terms for Hepatic Adenoma, Somatic

Cellular components related to Hepatic Adenoma, Somatic according to GeneCards Suite gene sharing:

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

Biological processes related to Hepatic Adenoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 SMAD protein signal transduction GO:0060395 9.43 AFP HNF1A
2 positive regulation of protein catabolic process GO:0045732 9.4 APC GPC3
3 branching involved in ureteric bud morphogenesis GO:0001658 9.37 CTNNB1 GPC3
4 embryonic hindlimb morphogenesis GO:0035116 9.32 CTNNB1 GPC3
5 osteoclast differentiation GO:0030316 9.26 CTNNB1 GPC3
6 bone resorption GO:0045453 9.16 CTNNB1 HNF1A
7 beta-catenin destruction complex disassembly GO:1904886 8.96 APC CTNNB1
8 anterior/posterior axis specification GO:0009948 8.62 CTNNB1 GPC3

Sources for Hepatic Adenoma, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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