HBL
MCID: HPT022
MIFTS: 62

Hepatoblastoma (HBL) malady

Rare diseases, Liver diseases, Cancer diseases categories
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Summaries for Hepatoblastoma

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65Wikipedia, 33MalaCards
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Wikipedia:65 Hepatoblastoma is an uncommon malignant liver neoplasm occurring in infants and children and composed of... more...

MalaCards: Hepatoblastoma, also known as HBL, is related to hepatitis and beckwith-wiedemann syndrome. An important gene associated with Hepatoblastoma is APC (adenomatous polyposis coli), and among its related pathways are Canonical Wnt signaling pathway and Wnt / Hedgehog / Notch. The compounds 1-hydroxyanthraquinone and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include liver, fetal liver and lung, and related mouse phenotypes are no phenotypic analysis and tumorigenesis.

Aliases & Classifications for Hepatoblastoma

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

49
hepatoblastoma:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

hepatoblastoma 8 43 22 10 45 49 62
hbl 8


External Ids:

Disease Ontology8 DOID:687
NCIt40 C3728
MeSH35 D018197
SNOMED-CT via Orphanet59 45024009, 109843000
SNOMED-CT58 109843000, 45024009
UMLS via Orphanet63 C0206624
MESH via Orphanet36 D018197
ICD10 via Orphanet26 C22.2

Related Diseases for Hepatoblastoma

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17GeneCards, 18GeneDecks
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Diseases related to Hepatoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.0MGAT3, THPO, AFP
2beckwith-wiedemann syndrome30.7IGF2, H19, CDKN1C
3hepatocellular carcinoma30.6MGAT3, IGF2, AFP, APC, EPOR, H19
4hemihypertrophy30.3CDKN1C, H19, IGF2
5adenocarcinoma30.1AFP, APC, EPOR, H19, CDKN1C, CTNNB1
6wilms tumor30.1IGF2, H19, CDKN1C, CTNNB1
7leukemia30.1MGAT3, THPO, MPL, EPOR, H19, CDKN1C
8gardner syndrome30.0APC, CTNNB1
9purpura30.0THPO
10erythrocytosis30.0MPL, EPOR
11pancytopenia29.9THPO, MPL
12thrombocytosis29.9EPOR, MPL, THPO
13biliary atresia29.9OTC, SLC10A1
14hypoglycemia29.8CDKN1C, SERPINA6, IGF2
15breast cancer29.8IGF2, EPOR, H19, CTNNB1
16mixed hepatoblastoma10.5
17familial adenomatous polyposis10.4
18hypobetalipoproteinemia, familial, 210.3
19hepatitis b10.3
20neuroblastoma10.2
21aicardi syndrome10.1
22macrotrabecular hepatoblastoma10.1
23peritonitis10.1
24rhabdoid tumor10.1
25teratoma10.1
26juvenile polyposis syndrome10.1APC
27gallbladder cancer10.1APC
28thrombocythemia 110.1THPO
29intestinal neoplasm10.1APC, CTNNB1
30desmoid tumor10.1CTNNB1, APC
31turcot syndrome10.1APC, CTNNB1
32acinar cell carcinoma10.1AFP, CTNNB1
33colorectal cancer, somatic10.1APC, CTNNB1
34fibromatosis10.1APC, CTNNB1
35malignant mixed mullerian tumor10.1AFP, CTNNB1
36portal vein thrombosis10.1AFP, THPO
37hepatocellular adenoma10.1CTNNB1, APC, AFP
38emphysema due to aat deficiency10.1OTC
39tubular adenocarcinoma10.1AFP, CTNNB1
40congenital amegakaryocytic thrombocytopenia10.1THPO, MPL
41peutz-jeghers syndrome10.1APC, CTNNB1
42thrombocytopenia due to platelet alloimmunization10.1THPO, MPL
43chronic myeloproliferative disease10.1THPO, MPL
44megakaryocytic leukemia10.1EPOR, THPO
45autoimmune thrombocytopenic purpura10.1THPO, MPL
46hemorrhagic thrombocythemia10.1THPO, MPL
47splenomegaly10.1THPO, MPL
48gestational trophoblastic tumor10.1CDKN1C, H19
49acute liver failure10.1THPO, OTC
50gastric adenocarcinoma10.1AFP, APC, EPOR, CTNNB1

Graphical network of the top 20 diseases related to Hepatoblastoma:



Diseases related to hepatoblastoma

Symptoms for Hepatoblastoma

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Drugs & Therapeutics for Hepatoblastoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hepatoblastoma

Search NIH Clinical Center for Hepatoblastoma

Genetic Tests for Hepatoblastoma

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Sources:
22GTR
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Genetic tests related to Hepatoblastoma:

id Genetic test Affiliating Genes
1 Hepatoblastoma22

Anatomical Context for Hepatoblastoma

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33MalaCards
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MalaCards organs/tissues related to Hepatoblastoma:

33
Liver, Fetal liver, Lung, Brain, Kidney, Heart, Breast, Prostate, Nk cells, Endothelial, Thyroid

Animal Models for Hepatoblastoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hepatoblastoma:

37 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9IGF2, APC, SERPINA6, EPOR, H19, CTNNB1
2MP:00020068.9MGAT3, NQO2, AFP, APC, H19, CTNNB1
3MP:00053818.7IGF2, CYP7A1, APC, H19, CDKN1C, CTNNB1
4MP:00028738.6MGAT3, APC, EPOR, H19, CDKN1C, CTNNB1
5MP:00053808.5IGF2, APC, MPL, EPOR, H19, CDKN1C
6MP:00053678.4IGF2, APC, SERPINA6, CDKN1C, CTNNB1, OTC
7MP:00053718.4IGF2, APC, CDKN1C, CDO1, CTNNB1
8MP:00107718.3IGF2, CYP7A1, NQO2, APC, CTNNB1, OTC
9MP:00053828.2IGF2, APC, CDKN1C, CDO1, CTNNB1
10MP:00053908.1IGF2, APC, H19, CDKN1C, CDO1, CTNNB1
11MP:00053918.1IGF2, CYP7A1, APC, CDKN1C, CDO1, CTNNB1
12MP:00053857.9CTNNB1, CDO1, CDKN1C, EPOR, APC, IGF2
13MP:00053887.9IGF2, EPOR, CDKN1C, CDO1, CTNNB1
14MP:00053707.8MGAT3, IGF2, CYP7A1, APC, SERPINA6, EPOR
15MP:00036317.8IGF2, APC, EPOR, H19, CDKN1C, CTNNB1
16MP:00053797.7IGF2, AFP, APC, CDKN1C, CDO1, CTNNB1
17MP:00053897.6IGF2, AFP, APC, CDKN1C, CDO1, CTNNB1
18MP:00053977.5THPO, IGF2, NQO2, APC, MPL, EPOR
19MP:00053847.4MGAT3, IGF2, APC, MPL, EPOR, H19
20MP:00053877.2APC, NQO2, IGF2, THPO, MPL, SERPINA6
21MP:00053786.7MPL, APC, CYP7A1, IGF2, EPOR, H19
22MP:00053866.7IGF2, CYP7A1, NQO2, AFP, APC, SERPINA6
23MP:00107686.5APC, AFP, CYP7A1, IGF2, MPL, EPOR
24MP:00053765.6OTC, MGAT3, IGF2, CYP7A1, NQO2, AFP

Publications for Hepatoblastoma

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Sources:
52PubMed
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Articles related to Hepatoblastoma:

(show top 50)    (show all 656)
idTitleAuthorsYear
1
Hepatoblastoma evaluated by 18F-fluoromethyl choline PET/CT. (23334143)
2013
2
Analysis of national and single-center incidence and survival after liver transplantation for hepatoblastoma: new trends and future opportunities. (23331862)
2013
3
Epigallocatechin-3-gallate inhibits hepatoblastoma growth by reactivating the Wnt inhibitor SFRP1. (24127655)
2013
4
Imaging analysis of hepatoblastoma resectability across neoadjuvant chemotherapy. (23845613)
2013
5
High mobility group AT-hook 2 is overexpressed in hepatoblastoma. (23134771)
2013
6
ER stress and ASK1-JNK activation contribute to oridonin-induced apoptosis and growth inhibition in cultured human hepatoblastoma HuH-6 cells. (23580093)
2013
7
Cytogenetics of hepatoblastoma. (22201954)
2012
8
Hepatoblastoma in an infant with paternal uniparental disomy 14. (23181499)
2012
9
A fetus with a huge neck mass and a large abdominal circumference--a rare case of sialoblastoma and hepatoblastoma. (22711473)
2012
10
Prognostic implications of serum alpha-fetoprotein response during treatment of hepatoblastoma. (21370433)
2011
11
Initial liver transplantation for unresectable hepatoblastoma after chemotherapy. (21910210)
2011
12
Hepatoblastoma with tumor extension through the inferior vena cava into the right atrium. (20479678)
2010
13
Sterol-regulatory-element-binding protein 2 and nuclear factor Y control human farnesyl diphosphate synthase expression and affect cell proliferation in hepatoblastoma cells. (20450493)
2010
14
Hepatoblastoma in association with bilateral polycystic kidneys. (21034924)
2010
15
Altered microRNA Expression Patterns in Hepatoblastoma Patients. (19701500)
2009
16
Overexpression of Dickkopf 3 in hepatoblastomas and hepatocellular carcinomas. (19437037)
2009
17
Arachidonic Acid Activates K-Cl-cotransport in HepG2 Human Hepatoblastoma Cells. (19915704)
2009
18
Treatment-related acute myelomonocytic leukemia with t(11;19) in a child following chemotherapy for hepatoblastoma. (17973320)
2008
19
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. (18253957)
2008
20
Teratoid hepatoblastoma. (19065325)
2008
21
In vitro and in vivo evaluation of photodynamic techniques for the experimental treatment of human hepatoblastoma and neuroblastoma: preliminary results. (19009300)
2008
22
Evaluation and treatment of hepatoblastoma. (16423617)
2006
23
Hepatoblastoma: why so many low-birth-weight infants? (16456653)
2006
24
Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. (16317299)
2006
25
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)
2005
26
Liver transplantation for hepatoblastoma: results from the International Society of Pediatric Oncology (SIOP) study SIOPEL-1 and review of the world experience. (14752798)
2004
27
Hepatoblastoma and hepatocellular carcinoma in children. (15146904)
2004
28
Curative resection by superior hepatectomy for advanced hepatoblastoma facilitated by the presence of a large inferior right hepatic vein. (18333062)
2004
29
Brain metastases in hepatoblastoma. (15087112)
2004
30
Tamoxifen cytotoxicity in hepatoblastoma cells stably transfected with human CYP3A4. (15006542)
2004
31
Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (15221005)
2004
32
Improved survival outcome for hepatoblastoma based on an optimal chemotherapeutic regimen--a report from the study group for pediatric solid malignant tumors in the Kyushu area. (14966739)
2004
33
Hepatoblastoma in a girl with biliary atresia: coincidence or co-incidence. (15382280)
2004
34
Analysis of treatment outcome for children with recurrent or metastatic hepatoblastoma. (12768314)
2003
35
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. (12970646)
2003
36
Orthotopic liver transplantation for unresectable hepatoblastoma. (12352881)
2002
37
Hepatoblastoma: assessment of criteria for histologic classification. (12228903)
2002
38
Beta-catenin mutations and protein accumulation in all hepatoblastomas examined from B6C3F1 mice treated with anthraquinone or oxazepam. (10850429)
2000
39
Role of Ca2+ influx in the tert-butyl hydroperoxide-induced apoptosis of HepG2 human hepatoblastoma cells. (9873835)
1998
40
Thrombopoietin in patients with hepatoblastoma. (9766812)
1998
41
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. (9378405)
1997
42
Timing and magnitude of decline in alpha-fetoprotein levels in treated children with unresectable or metastatic hepatoblastoma are predictors of outcome: a report from the Children's Cancer Group. (9060563)
1997
43
Hepatoblastoma and APC gene mutation in familial adenomatous polyposis. (9038672)
1996
44
Differential effects of insulin and insulin-like growth factor I on the production of plasma steroid-binding globulins by human hepatoblastoma-derived (Hep G2) cells. (7536204)
1995
45
Establishment and characterization of a novel hepatoblastoma-derived cell line. (7595832)
1995
46
Identification of a human immunodeficiency virus type 1 TAR binding protein in human hepatoblastoma HepG2 cells that trans-activates HIV-1 LTR-directed gene expression. (8286041)
1994
47
Production of interleukin-1 beta and interleukin-6 in hepatoblastoma. (8383628)
1993
48
Combined cystic teratoma and hepatoblastoma of the liver. Probable divergent differentiation of an uncommitted hepatic precursor cell. (8221556)
1993
49
Epithelial and mixed hepatoblastoma in the adult. Histological observations and general considerations. (1317555)
1992
50
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. (3354603)
1988

Variations for Hepatoblastoma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hepatoblastoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.722C> T (p.Ser241Phe)single nucleotide variantLikely pathogenic, Pathogenicrs28934573GRCh37Chr 17, 7577559: 7577559

Expression for genes affiliated with Hepatoblastoma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatoblastoma

Search GEO for disease gene expression data for Hepatoblastoma.

Pathways for genes affiliated with Hepatoblastoma

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50PathCards, 38NCBI BioSystems Database, 5Cell Signaling Technology, 30KEGG, 55Reactome, 53QIAGEN
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Compounds for genes affiliated with Hepatoblastoma

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45Novoseek, 24HMDB, 51PharmGKB, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 3BitterDB
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Compounds related to Hepatoblastoma according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone4510.4CTNNB1, APC
2methylazoxymethanol acetate4510.4CTNNB1, APC
3samp4510.3APC, CTNNB1
4megapoietin4510.2THPO, MPL
51,2-dimethylhydrazine4510.2APC, CTNNB1
6nap-24510.0H19, IGF2
7sodium bisulfite459.9APC, IGF2, CTNNB1
8thromboxane45 2410.7MPL, CYP7A1, THPO
9aspirin45 51 29 2412.7APC, MPL, CTNNB1, THPO
10methylcellulose459.5THPO, CTNNB1, IGF2, EPOR
11tgf beta1459.5IGF2, THPO, CTNNB1, AFP
12polyethylene glycol459.5IGF2, AFP, MPL, THPO
13rsai459.5H19, IGF2, OTC
14prostacyclin459.4APC, THPO, IGF2, CYP7A1
15triiodothyronine459.3CYP7A1, SERPINA6, IGF2
16vitamin d459.3AFP, CTNNB1, APC, IGF2
17tamoxifen45 51 29 1112.2IGF2, THPO, CTNNB1, SERPINA6
18polysaccharide459.2AFP, CTNNB1, THPO, MGAT3
19fatty acid459.2OTC, CTNNB1, SERPINA6, APC, AFP
20indomethacin45 29 61 1112.2APC, THPO, IGF2, SLC10A1
21acth459.2H19, IGF2, APC, SERPINA6, CDKN1C
22paraffin459.2AFP, IGF2, APC, EPOR, H19, CTNNB1
23paclitaxel45 51 1111.1THPO, CTNNB1, AFP, IGF2
24thymidine45 2410.0CTNNB1, THPO, IGF2, AFP, EPOR, H19
25glycogen45 2410.0IGF2, AFP, APC, CTNNB1, OTC
26chloramphenicol45 3 51 1112.0OTC, AFP, IGF2, CYP7A1
27glutamine459.0IGF2, AFP, APC, CTNNB1, OTC
28testosterone45 61 24 1112.0SLC10A1, CTNNB1, SERPINA6, APC, AFP, IGF2
29sodium45 2410.0APC, THPO, OTC, AFP, SLC10A1
30phosphatidylinositol459.0CTNNB1, EPOR, MPL, APC, IGF2, THPO
31vegf459.0IGF2, CTNNB1, AFP, THPO, MPL, EPOR
32butyrate458.9IGF2, CTNNB1, AFP, OTC, THPO
33dexamethasone45 51 29 1111.9THPO, SERPINA6, CTNNB1, AFP, CYP7A1, IGF2
345-aza-2deoxycytidine458.9CTNNB1, CDKN1C, THPO, H19, APC, IGF2
35cholesterol45 29 24 1111.9SERPINA6, AFP, CYP7A1, CDKN1C, SLC10A1
36iron45 249.8EPOR, MPL, AFP, CDO1, THPO
37agar458.8H19, CTNNB1, THPO, IGF2, AFP, MPL
38alanine458.7THPO, CTNNB1, EPOR, SERPINA6, MPL, AFP
39serine458.7SERPINA6, CTNNB1, EPOR, IGF2, MPL, APC
405fluorouracil458.7THPO, OTC, CTNNB1, MPL, IGF2, AFP
41progesterone45 29 61 24 1112.7IGF2, CTNNB1, SERPINA6, SLC10A1, CYP7A1, APC
42estrogen458.5CTNNB1, SERPINA6, APC, AFP, CYP7A1, IGF2
43steroid458.5SERPINA6, CTNNB1, H19, EPOR, AFP, CYP7A1
44oxygen45 249.4CYP7A1, AFP, EPOR, NQO2, CDO1, THPO
45retinoic acid45 249.3THPO, H19, MGAT3, CTNNB1, APC, AFP
46lipid458.2SERPINA6, OTC, EPOR, APC, CYP7A1, AFP
47tyrosine458.2H19, EPOR, MPL, APC, AFP, IGF2
48cysteine458.1IGF2, THPO, CTNNB1, EPOR, SERPINA6, MPL
49glucose458.1CYP7A1, SERPINA6, AFP, IGF2, THPO, EPOR
50oligonucleotide457.7CDO1, AFP, OTC, CTNNB1, THPO, IGF2

GO Terms for genes affiliated with Hepatoblastoma

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16Gene Ontology
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Cellular components related to Hepatoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell adherens junctionGO:00591310.0CTNNB1, APC
2beta-catenin destruction complexGO:0308779.7CTNNB1, APC

Biological processes related to Hepatoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:04433610.1CTNNB1, APC
2T cell differentiation in thymusGO:03307710.0CTNNB1, APC
3proximal/distal pattern formationGO:0099549.9APC, CTNNB1
4midgut developmentGO:0074949.6OTC, CTNNB1
5platelet activationGO:0301689.0MPL, IGF2, THPO

Molecular functions related to Hepatoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cadherin bindingGO:04529610.0CTNNB1, APC

Products for genes affiliated with Hepatoblastoma

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Sources for Hepatoblastoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet