Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the liver (HP:0001392)help
Grandparent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
Parent Node:
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Neoplasm of the liver (HP:0002896)help
..Starting node
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Hepatocellular carcinoma (HP:0001402)help
Term ID: 1402
Name: Hepatocellular carcinoma
Synonym: Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma
Definition: A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
Comments:
Reference: HP:0001402
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHepatic hemangioma (HP:0031207) help
..expandHepatoblastoma (HP:0002884) help
..expandHepatocellular adenoma (HP:0012028) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001402HP:0001402Hepatocellular carcinoma0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0001402HP:0001402Hepatocellular carcinoma0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040283 - Occasional111
HP:0001402HP:0001402Hepatocellular carcinoma0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040283 - Occasional31
HP:0001402HP:0001402Hepatocellular carcinoma0APC CL E G H324583OMIM:114550Hepatocellular carcinoma.3179
HP:0001402HP:0001402Hepatocellular carcinoma0ATP7B CL E G H540870OMIM:277900Wilson diseaseHP:0040283 - Occasional315
HP:0001402HP:0001402Hepatocellular carcinoma0AXIN1 CL E G H8312903OMIM:114550Hepatocellular carcinoma.3
HP:0001402HP:0001402Hepatocellular carcinoma0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0001402HP:0001402Hepatocellular carcinoma0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001402HP:0001402Hepatocellular carcinoma0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0001402HP:0001402Hepatocellular carcinoma0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0001402HP:0001402Hepatocellular carcinoma0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0001402HP:0001402Hepatocellular carcinoma0CASP8 CL E G H8411509OMIM:114550Hepatocellular carcinoma.37
HP:0001402HP:0001402Hepatocellular carcinoma0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040283 - Occasional72
HP:0001402HP:0001402Hepatocellular carcinoma0CTNNB1 CL E G H14992514OMIM:114550Hepatocellular carcinoma.88
HP:0001402HP:0001402Hepatocellular carcinoma0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0001402HP:0001402Hepatocellular carcinoma0F5 CL E G H21533542OMIM:600880Budd-Chiari syndrome.159
HP:0001402HP:0001402Hepatocellular carcinoma0FAH CL E G H21843579ORPHA:882Tyrosinemia type 1HP:0040283 - Occasional107
HP:0001402HP:0001402Hepatocellular carcinoma0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001402HP:0001402Hepatocellular carcinoma0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0001402HP:0001402Hepatocellular carcinoma0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0001402HP:0001402Hepatocellular carcinoma0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0001402HP:0001402Hepatocellular carcinoma0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0001402HP:0001402Hepatocellular carcinoma0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001402HP:0001402Hepatocellular carcinoma0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0001402HP:0001402Hepatocellular carcinoma0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0001402HP:0001402Hepatocellular carcinoma0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040284 - Very rare580
HP:0001402HP:0001402Hepatocellular carcinoma0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040284 - Very rare580
HP:0001402HP:0001402Hepatocellular carcinoma0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040284 - Very rare580
HP:0001402HP:0001402Hepatocellular carcinoma0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0001402HP:0001402Hepatocellular carcinoma0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0001402HP:0001402Hepatocellular carcinoma0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001402HP:0001402Hepatocellular carcinoma0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0001402HP:0001402Hepatocellular carcinoma0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0001402HP:0001402Hepatocellular carcinoma0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0001402HP:0001402Hepatocellular carcinoma0IGF2R CL E G H34825467OMIM:114550Hepatocellular carcinoma.4
HP:0001402HP:0001402Hepatocellular carcinoma0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001402HP:0001402Hepatocellular carcinoma0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0001402HP:0001402Hepatocellular carcinoma0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0001402HP:0001402Hepatocellular carcinoma0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001402HP:0001402Hepatocellular carcinoma0JAK2 CL E G H37176192OMIM:600880Budd-Chiari syndrome.57
HP:0001402HP:0001402Hepatocellular carcinoma0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0001402HP:0001402Hepatocellular carcinoma0MET CL E G H42337029OMIM:114550Hepatocellular carcinoma.375
HP:0001402HP:0001402Hepatocellular carcinoma0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0001402HP:0001402Hepatocellular carcinoma0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0001402HP:0001402Hepatocellular carcinoma0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001402HP:0001402Hepatocellular carcinoma0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0001402HP:0001402Hepatocellular carcinoma0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0001402HP:0001402Hepatocellular carcinoma0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0001402HP:0001402Hepatocellular carcinoma0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0001402HP:0001402Hepatocellular carcinoma0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0001402HP:0001402Hepatocellular carcinoma0PDGFRL CL E G H51578805OMIM:114550Hepatocellular carcinoma.2
HP:0001402HP:0001402Hepatocellular carcinoma0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001402HP:0001402Hepatocellular carcinoma0PIK3CA CL E G H52908975OMIM:114550Hepatocellular carcinoma.162
HP:0001402HP:0001402Hepatocellular carcinoma0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0001402HP:0001402Hepatocellular carcinoma0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0001402HP:0001402Hepatocellular carcinoma0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0001402HP:0001402Hepatocellular carcinoma0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001402HP:0001402Hepatocellular carcinoma0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040284 - Very rare41
HP:0001402HP:0001402Hepatocellular carcinoma0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0001402HP:0001402Hepatocellular carcinoma0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0001402HP:0001402Hepatocellular carcinoma0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040284 - Very rare71
HP:0001402HP:0001402Hepatocellular carcinoma0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0001402HP:0001402Hepatocellular carcinoma0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0001402HP:0001402Hepatocellular carcinoma0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0001402HP:0001402Hepatocellular carcinoma0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0001402HP:0001402Hepatocellular carcinoma0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency.131
HP:0001402HP:0001402Hepatocellular carcinoma0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040283 - Occasional82
HP:0001402HP:0001402Hepatocellular carcinoma0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset.82
HP:0001402HP:0001402Hepatocellular carcinoma0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040284 - Very rare71
HP:0001402HP:0001402Hepatocellular carcinoma0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040284 - Very rare110
HP:0001402HP:0001402Hepatocellular carcinoma0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0001402HP:0001402Hepatocellular carcinoma0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0001402HP:0001402Hepatocellular carcinoma0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001402HP:0001402Hepatocellular carcinoma0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0001402HP:0001402Hepatocellular carcinoma0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0001402HP:0001402Hepatocellular carcinoma0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0001402HP:0001402Hepatocellular carcinoma0TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0001402HP:0001402Hepatocellular carcinoma0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0001402HP:0001402Hepatocellular carcinoma0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0001402HP:0001402Hepatocellular carcinoma0TP53 CL E G H715711998OMIM:114550Hepatocellular carcinoma.911
HP:0001402HP:0001402Hepatocellular carcinoma0TULP3 CL E G H728912425OMIM:619902
HP:0001402HP:0001402Hepatocellular carcinoma0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31


Genes (72) :ABCB11 ABCB4 AHCY APC ATP7B AXIN1 BMP2 BMP6 BMPR1A BTK CASP10 CASP8 CPOX CTNNB1 EPCAM F5 FAH FAN1 FAS FASLG G6PC1 GIMAP5 GPR35 H19-ICR HBB HFE HMBS IGF2 IGF2R IL12A IL12RB1 IRF5 JAG1 JAK2 KRAS MET MLH1 MLH3 MMEL1 MPV17 MSH2 MSH6 MST1 PDE11A PDGFRL PHKB PIK3CA PMS1 PMS2 POU2AF1 PPOX PRKAR1A PRKCD PYGL RASGRP1 RPS20 SEMA4A SEMA4D SERPINA1 SLC25A13 SLC2A2 SLC37A4 SPIB SPRTN TCF4 TGFBR2 TJP2 TNFSF15 TNPO3 TP53 TULP3 UROD

Diseases (42) :OMIM:601847 ORPHA:69663 ORPHA:88618 OMIM:114550 OMIM:277900 OMIM:235200 ORPHA:465508 ORPHA:440437 OMIM:300755 ORPHA:3261 ORPHA:79273 ORPHA:144 OMIM:600880 ORPHA:882 OMIM:276700 OMIM:232200 OMIM:619463 ORPHA:171 OMIM:180860 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:176100 ORPHA:79276 OMIM:176000 ORPHA:186 OMIM:118450 OMIM:256810 ORPHA:1359 ORPHA:79240 ORPHA:79473 ORPHA:369 OMIM:613490 ORPHA:247585 OMIM:603471 ORPHA:2088 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:616200 OMIM:615878 OMIM:619902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.