MCID: HPT033
MIFTS: 30

Hepatoblastoma, Somatic malady

Genetic diseases (common), Liver diseases categories
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Summaries for Hepatoblastoma, Somatic

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47OMIM, 33MalaCards
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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:47 114550

Aliases & Classifications for Hepatoblastoma, Somatic

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47OMIM
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Classifications:

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


Aliases & Descriptions:

hepatoblastoma, somatic 47


Related Diseases for Hepatoblastoma, Somatic

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

114550

Drugs & Therapeutics for Hepatoblastoma, Somatic

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hepatoblastoma, Somatic

Search NIH Clinical Center 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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37MGI
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MGI Mouse Phenotypes related to Hepatoblastoma, Somatic:

37
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hepatoblastoma, Somatic:

64 (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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatoblastoma, Somatic

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Pathways for genes affiliated with Hepatoblastoma, Somatic

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Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN, 55Reactome, 54R&D Systems, 5Cell Signaling Technology, 60Thomson 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)38
Wnt Signaling Pathway and Pluripotency38
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 NetPath38
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 pathway60
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:
45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphoserine45 2410.6APC, CDKN3
2nocodazole45 1110.5APC, CDKN3
3crcs459.5MET, APC
4ornithine45 2410.3APC, MET
5gefitinib45 51 1111.2MET, CDKN3
6herbimycin a45 6110.0CDKN3, MET
7rapamycin458.9CDKN3, MET, APC
8wortmannin458.9APC, MET, CDKN3
9glycogen45 249.9CDKN3, MET, APC
10phosphoinositide458.9APC, MET, CDKN3
11cycloheximide458.8CDKN3, MET, APC
12testosterone45 61 24 1111.8CDKN3, MET, APC
13phosphatidylinositol458.8CDKN3, MET, APC
14inositol458.7CDKN3, MET
15threonine458.7CDKN3, MET, APC
16estrogen458.6CDKN3, MET, APC
17retinoic acid45 249.5APC, MET, CDKN3

GO Terms for genes affiliated with Hepatoblastoma, Somatic

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16Gene 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
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