Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the kidney (HP:0000077)help
Grandparent Node:
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Urinary tract neoplasm (HP:0010786)help
Parent Node:
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Renal neoplasm (HP:0009726)help
..Starting node
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Renal cell carcinoma (HP:0005584)help
Term ID: 5584
Name: Renal cell carcinoma
Synonym: Cancer starting in small tubes in kidneys; Hypernephroma; Renal carcinoma
Definition: A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Comments:
Reference: HP:0005584
Genes and Diseases:
 
       Child Nodes:
........expandPapillary renal cell carcinoma (HP:0006766) help
................... HP:0006732 Papillary renal cell carcinoma type 2
................... HP:0011797 Papillary renal cell carcinoma type 1
........expandClear cell renal cell carcinoma (HP:0006770) help

 Sister Nodes: 
..expandEmbryonal renal neoplasm (HP:0011794) help
..expandRenal cortical adenoma (HP:0006735) help
..expandRenal hamartoma (HP:0008696) help
..expandRenal oncocytoma (HP:0011798) help
..expandRenal pelvic carcinoma (HP:0006762) help
..expandRenal sarcoma (HP:0008663) help
..expandRenal transitional cell carcinoma (HP:0030409) 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:0005584HP:0005584Renal cell carcinoma0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0005584HP:0005584Renal cell carcinoma0AKT1 CL E G H207391OMIM:114500Colorectal cancer.54
HP:0005584HP:0005584Renal cell carcinoma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0005584HP:0005584Renal cell carcinoma0APC CL E G H324583OMIM:114500Colorectal cancer.3179
HP:0005584HP:0005584Renal cell carcinoma0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0005584HP:0005584Renal cell carcinoma0AURKA CL E G H679011393OMIM:114500Colorectal cancer.1
HP:0005584HP:0005584Renal cell carcinoma0AXIN2 CL E G H8313904OMIM:114500Colorectal cancer.435
HP:0005584HP:0005584Renal cell carcinoma0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0005584HP:0005584Renal cell carcinoma0BAX CL E G H581959OMIM:114500Colorectal cancer.4
HP:0005584HP:0005584Renal cell carcinoma0BRAF CL E G H6731097OMIM:114500Colorectal cancer.276
HP:0005584HP:0005584Renal cell carcinoma0BUB1 CL E G H6991148OMIM:114500Colorectal cancer.5
HP:0005584HP:0005584Renal cell carcinoma0BUB1B CL E G H7011149OMIM:114500Colorectal cancer.76
HP:0005584HP:0005584Renal cell carcinoma0CCND1 CL E G H5951582OMIM:114500Colorectal cancer.1
HP:0005584HP:0005584Renal cell carcinoma0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0005584HP:0005584Renal cell carcinoma0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0005584HP:0005584Renal cell carcinoma0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0005584HP:0005584Renal cell carcinoma0CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer.833
HP:0005584HP:0005584Renal cell carcinoma0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0005584HP:0005584Renal cell carcinoma0CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer.88
HP:0005584HP:0005584Renal cell carcinoma0DCC CL E G H16302701OMIM:114500Colorectal cancer.36
HP:0005584HP:0005584Renal cell carcinoma0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0005584HP:0005584Renal cell carcinoma0DLC1 CL E G H103952897OMIM:114500Colorectal cancer.11
HP:0005584HP:0005584Renal cell carcinoma0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0005584HP:0005584Renal cell carcinoma0EP300 CL E G H20333373OMIM:114500Colorectal cancer.250
HP:0005584HP:0005584Renal cell carcinoma0FGFR3 CL E G H22613690OMIM:114500Colorectal cancer.145
HP:0005584HP:0005584Renal cell carcinoma0FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancer301
HP:0005584HP:0005584Renal cell carcinoma0FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancer.301
HP:0005584HP:0005584Renal cell carcinoma0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0005584HP:0005584Renal cell carcinoma0FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndromeHP:0040283 - Occasional332
HP:0005584HP:0005584Renal cell carcinoma0FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0005584HP:0005584Renal cell carcinoma0FLCN CL E G H20116327310OMIM:114500Colorectal cancer.332
HP:0005584HP:0005584Renal cell carcinoma0FLCN CL E G H20116327310OMIM:144700Renal cell carcinoma, nonpapillary.332
HP:0005584HP:0005584Renal cell carcinoma0FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinoma9
HP:0005584HP:0005584Renal cell carcinoma0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0005584HP:0005584Renal cell carcinoma0HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinoma58
HP:0005584HP:0005584Renal cell carcinoma0HNF1A CL E G H692711621OMIM:144700Renal cell carcinoma, nonpapillary.161
HP:0005584HP:0005584Renal cell carcinoma0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0005584HP:0005584Renal cell carcinoma0HNF1B CL E G H692811630OMIM:144700Renal cell carcinoma, nonpapillary.90
HP:0005584HP:0005584Renal cell carcinoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0005584HP:0005584Renal cell carcinoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0005584HP:0005584Renal cell carcinoma0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0005584HP:0005584Renal cell carcinoma0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0005584HP:0005584Renal cell carcinoma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0005584HP:0005584Renal cell carcinoma0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0005584HP:0005584Renal cell carcinoma0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0005584HP:0005584Renal cell carcinoma0MCC CL E G H41636935OMIM:114500Colorectal cancer.6
HP:0005584HP:0005584Renal cell carcinoma0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0005584HP:0005584Renal cell carcinoma0MET CL E G H42337029OMIM:605074RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1375
HP:0005584HP:0005584Renal cell carcinoma0MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinoma3
HP:0005584HP:0005584Renal cell carcinoma0MLH3 CL E G H270307128OMIM:114500Colorectal cancer.131
HP:0005584HP:0005584Renal cell carcinoma0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0005584HP:0005584Renal cell carcinoma0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0005584HP:0005584Renal cell carcinoma0NRAS CL E G H48937989OMIM:114500Colorectal cancer.102
HP:0005584HP:0005584Renal cell carcinoma0OGG1 CL E G H49688125OMIM:144700Renal cell carcinoma, nonpapillary.1
HP:0005584HP:0005584Renal cell carcinoma0PBRM1 CL E G H5519330064OMIM:144700Renal cell carcinoma, nonpapillary.10
HP:0005584HP:0005584Renal cell carcinoma0PDGFRL CL E G H51578805OMIM:114500Colorectal cancer.2
HP:0005584HP:0005584Renal cell carcinoma0PIK3CA CL E G H52908975OMIM:114500Colorectal cancer.162
HP:0005584HP:0005584Renal cell carcinoma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0005584HP:0005584Renal cell carcinoma0PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer.1
HP:0005584HP:0005584Renal cell carcinoma0PRCC CL E G H55469343OMIM:605074RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0005584HP:0005584Renal cell carcinoma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0005584HP:0005584Renal cell carcinoma0PTPN12 CL E G H57829645OMIM:114500Colorectal cancer.1
HP:0005584HP:0005584Renal cell carcinoma0PTPRJ CL E G H57959673OMIM:114500Colorectal cancer.3
HP:0005584HP:0005584Renal cell carcinoma0RAD54B CL E G H2578817228OMIM:114500Colorectal cancer.2
HP:0005584HP:0005584Renal cell carcinoma0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0005584HP:0005584Renal cell carcinoma0RNF139 CL E G H1123617023OMIM:144700Renal cell carcinoma, nonpapillary.
HP:0005584HP:0005584Renal cell carcinoma0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0005584HP:0005584Renal cell carcinoma0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0005584HP:0005584Renal cell carcinoma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0005584HP:0005584Renal cell carcinoma0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0005584HP:0005584Renal cell carcinoma0SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0005584HP:0005584Renal cell carcinoma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0005584HP:0005584Renal cell carcinoma0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0005584HP:0005584Renal cell carcinoma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0005584HP:0005584Renal cell carcinoma0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0005584HP:0005584Renal cell carcinoma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0005584HP:0005584Renal cell carcinoma0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0005584HP:0005584Renal cell carcinoma0SRC CL E G H671411283OMIM:114500Colorectal cancer.15
HP:0005584HP:0005584Renal cell carcinoma0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0005584HP:0005584Renal cell carcinoma0TFE3 CL E G H703011752OMIM:300854Renal cell carcinoma, xp11-associated.
HP:0005584HP:0005584Renal cell carcinoma0TLR2 CL E G H709711848OMIM:114500Colorectal cancer.5
HP:0005584HP:0005584Renal cell carcinoma0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0005584HP:0005584Renal cell carcinoma0TP53 CL E G H715711998OMIM:114500Colorectal cancer.911
HP:0005584HP:0005584Renal cell carcinoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0005584HP:0005584Renal cell carcinoma0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0005584HP:0005584Renal cell carcinoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0005584HP:0005584Renal cell carcinoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0005584HP:0005584Renal cell carcinoma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0005584HP:0005584Renal cell carcinoma0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0005584HP:0005584Renal cell carcinoma0VHL CL E G H742812687OMIM:144700Renal cell carcinoma, nonpapillary.490
HP:0005584HP:0005584Renal cell carcinoma0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0005584HP:0005584Renal cell carcinoma0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0005584HP:0006766Papillary renal cell carcinoma1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0005584HP:0006766Papillary renal cell carcinoma1FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancer301
HP:0005584HP:0006766Papillary renal cell carcinoma1FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional9
HP:0005584HP:0006766Papillary renal cell carcinoma1HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional58
HP:0005584HP:0006766Papillary renal cell carcinoma1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0005584HP:0006766Papillary renal cell carcinoma1MET CL E G H42337029OMIM:605074RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1375
HP:0005584HP:0006766Papillary renal cell carcinoma1MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional3
HP:0005584HP:0006770Clear cell renal cell carcinoma1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0005584HP:0006766Papillary renal cell carcinoma1PRCC CL E G H55469343OMIM:605074RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0005584HP:0011797Papillary renal cell carcinoma type 12 CL E G H
HP:0005584HP:0006732Papillary renal cell carcinoma type 22FH CL E G H22713700ORPHA:523Hereditary leiomyomatosis and renal cell cancerHP:0040283 - Occasional301


Genes (72) :AAGAB AKT1 APC ARMC5 AURKA AXIN2 BAP1 BAX BRAF BUB1 BUB1B CCND1 CDC73 CHEK2 COL14A1 CTNNB1 DCC DICER1 DLC1 DLST EP300 FGFR3 FH FLCN FOXE1 GNAS HABP2 HNF1A HNF1B IFNG KEAP1 KIF1B KLLN LMNA MAX MCC MDH2 MET MINPP1 MLH3 NF1 NOD2 NRAS OGG1 PBRM1 PDGFRL PIK3CA PLA2G2A PRCC PTEN PTPN12 PTPRJ RAD54B RET RNF139 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SLC25A11 SRC STK11 TFE3 TLR2 TMEM127 TP53 TSC1 TSC2 USF3 VHL

Diseases (26) :ORPHA:79501 OMIM:114500 ORPHA:201 ORPHA:189427 OMIM:614327 ORPHA:892 OMIM:193300 OMIM:145001 ORPHA:276399 ORPHA:29072 ORPHA:523 OMIM:150800 ORPHA:122 OMIM:135150 OMIM:144700 ORPHA:319487 ORPHA:93111 ORPHA:805 OMIM:613254 ORPHA:363618 OMIM:605074 ORPHA:90340 OMIM:115310 ORPHA:2869 OMIM:300854 OMIM:191100
 

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