MCID: HPT033
MIFTS: 30

Hepatoblastoma, Somatic malady

Genetic diseases (common), Liver diseases categories

Summaries for Hepatoblastoma, Somatic

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48OMIM, 34MalaCards
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MalaCards: Hepatoblastoma, Somatic is related to peutz-jeghers syndrome and familial adenomatous polyposis. An important gene associated with Hepatoblastoma, Somatic is APC (adenomatous polyposis coli), and among its related pathways are Wnt Signaling Pathway and Hippo signaling pathway. The compounds phosphoserine and nocodazole have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Description from OMIM:48 114550

Aliases & Classifications for Hepatoblastoma, Somatic

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Liver diseases


Aliases & Descriptions:

hepatoblastoma, somatic 48


Related Diseases for Hepatoblastoma, Somatic

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Hepatoblastoma, Somatic:



Diseases related to hepatoblastoma, somatic

Symptoms for Hepatoblastoma, Somatic

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48OMIM
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Clinical features from OMIM:

114550

Drugs & Therapeutics for Hepatoblastoma, Somatic

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hepatoblastoma, Somatic

Drug clinical trials:

Search ClinicalTrials for Hepatoblastoma, Somatic

Search NIH Clinical Center for Hepatoblastoma, Somatic

Search CenterWatch for Hepatoblastoma, Somatic

Genetic Tests for Hepatoblastoma, Somatic

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Anatomical Context for Hepatoblastoma, Somatic

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Animal Models for Hepatoblastoma, Somatic or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hepatoblastoma, Somatic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7AXIN1, MET, APC
2MP:00053818.7AXIN1, MET, APC
3MP:00053828.6AXIN1, MET, APC
4MP:00053678.4APC, MET, AXIN1

Publications for Hepatoblastoma, Somatic

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Variations for Hepatoblastoma, Somatic

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hepatoblastoma, Somatic:

65 (show all 20)
id Symbol AA change Variation ID SNP ID
1AXIN1p.Leu106ArgVAR_015589
2AXIN1p.Pro345LeuVAR_015590
3AXIN1p.Gly425SerVAR_015591rs116350678
4AXIN1p.Gly650SerVAR_015592rs117208012
5CDKN3p.Trp31ArgVAR_013842
6CDKN3p.Phe78LeuVAR_013843
7CDKN3p.Cys79TyrVAR_013844
8CDKN3p.Asn91LysVAR_013845
9CDKN3p.Asp94ValVAR_013846
10CDKN3p.Leu95PheVAR_013847
11CDKN3p.Ile108ValVAR_013848rs144479038
12CDKN3p.Asn187SerVAR_013849
13CDKN3p.Lys195IleVAR_013850
14METp.Thr1173IleVAR_032490
15METp.Lys1244ArgVAR_032492
16METp.Met1250IleVAR_032493
17MTUS1p.Gln75LysVAR_035173rs61733703
18MTUS1p.Ala563SerVAR_035178
19MTUS1p.Asn873HisVAR_035180rs187103704
20MTUS1p.Gln1201ArgVAR_035184

Clinvar genetic disease variations for Hepatoblastoma, Somatic:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.747G> T (p.Arg249Ser)single nucleotide variantPathogenicrs28934571GRCh37Chr 17, 7577534: 7577534
2TP53NM_000546.5(TP53): c.469G> T (p.Val157Phe)single nucleotide variantPathogenicrs121912654GRCh37Chr 17, 7578461: 7578461
3PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
4PIK3CANM_006218.2(PIK3CA): c.3203dupA (p.Asn1068Lysfs)duplicationPathogenicGRCh37Chr 3, 178952148: 178952148
5PIK3CANM_006218.2(PIK3CA): c.1634A> C (p.Glu545Ala)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
6IGF2RNM_000876.2(IGF2R): c.4346G> T (p.Gly1449Val)single nucleotide variantPathogenicrs121434587GRCh37Chr 6, 160490993: 160490993
7IGF2RNM_000876.2(IGF2R): c.4391G> A (p.Gly1464Glu)single nucleotide variantPathogenicrs121434588GRCh37Chr 6, 160491038: 160491038
8CTNNB1NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe)single nucleotide variantPathogenicrs121913409GRCh37Chr 3, 41266137: 41266137
9CTNNB1NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121913407GRCh37Chr 3, 41266136: 41266136
10PDGFRLPDGRL, 2-BP DELdeletionPathogenic
11AXIN1NM_003502.3(AXIN1): c.1085_1116del32 (p.Val362Alafs)deletionPathogenicGRCh38Chr 16, 309973: 310004
12CASP8NM_001228.4(CASP8): c.1279_1280delGT (p.Val427Phefs)deletionPathogenicGRCh37Chr 2, 202149964: 202149965
13APCNM_000038.5(APC): c.1695delA (p.Val566Leufs)deletionPathogenicrs397514032GRCh37Chr 5, 112164621: 112164621

Expression for genes affiliated with Hepatoblastoma, Somatic

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatoblastoma, Somatic

Search GEO for disease gene expression data for Hepatoblastoma, Somatic.

Pathways for genes affiliated with Hepatoblastoma, Somatic

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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 56Reactome, 55R&D Systems, 5Cell Signaling Technology, 61Thomson Reuters
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Pathways related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
9.5AXIN1, APC
29.5AXIN1, APC
39.5APC, AXIN1
4
Show member pathways
9.5APC, AXIN1
5
Show member pathways
9.5APC, AXIN1
69.5AXIN1, APC
7
Show member pathways
Wnt Signaling Pathway NetPath39
9.5AXIN1, APC
8
Show member pathways
9.5AXIN1, APC
99.5APC, AXIN1
109.5APC, AXIN1
119.5AXIN1, APC
129.5AXIN1, APC
139.5AXIN1, APC
149.5APC, AXIN1
15
Show member pathways
Signal transduction PTEN pathway61
9.5AXIN1, APC
169.2APC, MET
179.2APC, MET
18
Show member pathways
8.7AXIN1, MET, APC
198.7AXIN1, MET, APC
20
Show member pathways
8.7AXIN1, MET, APC

Compounds for genes affiliated with Hepatoblastoma, Somatic

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphoserine46 2510.6APC, CDKN3
2nocodazole46 1210.5APC, CDKN3
3crcs469.5MET, APC
4ornithine46 2510.3APC, MET
5gefitinib46 52 1211.2MET, CDKN3
6herbimycin a46 6210.0CDKN3, MET
7rapamycin468.9CDKN3, MET, APC
8wortmannin468.9APC, MET, CDKN3
9glycogen46 259.9CDKN3, MET, APC
10phosphoinositide468.9APC, MET, CDKN3
11cycloheximide468.8CDKN3, MET, APC
12testosterone46 62 25 1211.8CDKN3, MET, APC
13phosphatidylinositol468.8CDKN3, MET, APC
14inositol468.7CDKN3, MET
15threonine468.7CDKN3, MET, APC
16estrogen468.6CDKN3, MET, APC
17retinoic acid46 259.5APC, MET, CDKN3

GO Terms for genes affiliated with Hepatoblastoma, Somatic

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17Gene Ontology
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Cellular components related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubuleGO:0058819.5AXIN1, APC
2beta-catenin destruction complexGO:0308779.4AXIN1, APC
3lateral plasma membraneGO:0163289.2AXIN1, APC

Biological processes related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubule organizationGO:0311229.6AXIN1, APC
2positive regulation of protein catabolic processGO:0457329.5AXIN1, APC
3canonical Wnt signaling pathwayGO:0600709.4APC, AXIN1
4cell cycle arrestGO:0070509.4CDKN3, APC
5negative regulation of canonical Wnt signaling pathwayGO:0900909.2AXIN1, APC

Molecular functions related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin bindingGO:0080139.5AXIN1, APC

Products for genes affiliated with Hepatoblastoma, Somatic

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  • Antibodies
  • Proteins
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Sources for Hepatoblastoma, Somatic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet