Disease #00080

Official abbreviation RCC
Name Renal cell carcinoma
OMIM ID 144700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 58
Phenotype entries for this disease 60
Associated with 1 gene HNF1A
Associated tissues kidney
Disease features -
Remarks -


Individuals

58 entries on 1 page. Showing entries 1 - 58.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00014857 - F - - Greek no - BrCa, RCC - - - 0 1 Despoina Kalfakakou
00014908 - F Thessaloniki Asia Minor Greek no - BrCa, RCC - BRCA1, BRCA2 - 0 1 Despoina Kalfakakou
00015375 - F Kilkis - Greek no - BrCa, RCC - BRCA1 BRCA1 1 1 Despoina Kalfakakou
00015783 - M Tripoli Ioannina Greek no - RCC - TP53 TP53 1 5 Despoina Kalfakakou
00015792 - F Arcadia - Greek no - BrCa, RCC, TRC - - - 0 1 Despoina Kalfakakou
00016111 - M Samos - Greek no - LeioM, OSRC, RCC - TP53 TP53 1 1 Despoina Kalfakakou
00017322 - F Asia Minor Agrinio Greek no - BrCa, RCC - - APC, EGFR, EXT1, KIT, PTEN, RECQL4, SMAD4, TSC2 11 1 Despoina Kalfakakou
00017863 - F Mytilene Sparta Greek no - BrCa, RCC - - BLM, BRIP1, CDK4, DICER1, DIS3L2, EXT2, FANCD2, FANCM, MSH6, NF2, PMS2, RECQL4, SBDS, SMAD4, TSC1 20 1 Despoina Kalfakakou
00019051 - F Romania - Romanian no - RCC - BRCA1 - 0 2 Despoina Kalfakakou
00020001 - M Vorizia, Crete - Greek no - Polyposis, RCC - MUTYH MUTYH 2 5 Despoina Kalfakakou
00020142 - M - - Greek no - GC, PrCa, RCC - CDH1 - 0 1 Despoina Kalfakakou
00020467 - M Ilia Constantinople Greek no - PrCa, RCC - - ATM, BRCA1, BRCA2, ERCC2, EZH2, HRAS, MLH1, MSH6, NBN, NF1, PMS1, RB1, SLX4, TSC2 18 1 Despoina Kalfakakou
00020471 - M - - Greek no - RCC - FLCN, VHL - 0 1 Despoina Kalfakakou
00020472 - M - - Greek no - RCC - FLCN, VHL - 0 1 Despoina Kalfakakou
00020473 - M - - Greek no - RCC - FLCN, VHL - 0 1 Despoina Kalfakakou
00020474 - M - - Greek no - RCC - FLCN, VHL - 0 1 Despoina Kalfakakou
00020479 - F - - Greek no - HMGM, RCC - VHL VHL 1 1 Despoina Kalfakakou
00020481 - F - - Greek no - RCC - VHL VHL 1 2 Despoina Kalfakakou
00020484 - M - - Greek no - RCC - VHL - 0 1 Despoina Kalfakakou
00020488 - F - - Greek no - RCC - FLCN - 0 1 Despoina Kalfakakou
00020489 - M Amfilochia Arta Greek no - Pheo, RCC - VHL - 0 1 Despoina Kalfakakou
00020500 - M Nikisiani, Kavala - Greek no - RCC - VHL VHL 1 9 Despoina Kalfakakou
00020511 - M Serres Veria Greek no - RCC, SCT - VHL VHL 1 2 Despoina Kalfakakou
00020513 - M Pontokomi, Kozani Kordelio, Thessaloniki Greek no - ADNM, Pheo, RCC - VHL VHL 1 2 Despoina Kalfakakou
00020518 - M Athens Peloponnese Greek no - RCC - - ATM, BRCA2, CDKN2A, PMS2, PTCH1, RECQL4, TP53, TSC2, XPC 10 1 Despoina Kalfakakou
00020523 - F Kanalia, Magnesia Phylace, Magnesia Greek no - RCC - - CDKN1C, CHEK2, ERCC5, NF1, PTCH1, SMARCB1, TP53, WRN 9 1 Despoina Kalfakakou
00020524 - F Kerasia, Etolia-Akarnania - Greek no - RCC - VHL - 0 1 Despoina Kalfakakou
00020525 - M Itea, Phocis Parakalamo, Ioannina Greek no - RCC - VHL - 0 1 Despoina Kalfakakou
00020527 - F Karditsa Latisa Greek no - RCC, TRC - - BRCA1, DIS3L2, ERCC2, FANCB, SDHD, WT1 7 1 Despoina Kalfakakou
00020533 - M Drepano, Nafplion - Greek no - Les, PanLes, RCC, RenLes - VHL VHL 1 15 Despoina Kalfakakou
00020549 - F Nea Madytos, Thessaloniki Vria, Pieria Greek no - RCC - - EGFR, TP53 2 1 Despoina Kalfakakou
00020550 - M Xiromero, Etolia-Akarnania Amfilochia Greek no - RCC - FLCN FLCN 1 1 Despoina Kalfakakou
00020551 - M Rethimno, Crete Thessaloniki Greek no - RCC - - BAP1, CEBPA, NBN, PTCH1, SLX4, WRN 6 1 Despoina Kalfakakou
00020552 - F Tripoli Santorini Greek no - RCC - VHL - 0 1 Despoina Kalfakakou
00020553 - M Kormista, Serres - Greek no - ColPol, FibFol, RCC - FLCN - 0 1 Despoina Kalfakakou
00020554 - M Karditsa - Greek no - RCC - - EXT1, FH, PALB2, SLX4, SMARCB1, VHL 8 1 Despoina Kalfakakou
00020555 - M Kato Makrinou, Ioannina Agrinio Greek no - LunLes, RCC, RenLes - FLCN FLCN 1 4 Despoina Kalfakakou
00020559 - F Livadia - Greek no - RCC, UtPol - VHL - 0 1 Despoina Kalfakakou
00020560 - M Kanalaki, Preveza Ammoudia, Preveza Greek no - LunLes, RCC, SponPneum - FLCN FLCN 1 4 Despoina Kalfakakou
00020564 - F Kalithea, Phocis - Greek no - RCC - - BAP1, EGFR, MSH6, NF1, PTCH1, RET 9 1 Despoina Kalfakakou
00020565 - M Fotada, Trikala - Greek no - HMGM, NDL, RCC - - CHEK2, MUTYH, SLX4 6 1 Despoina Kalfakakou
00020567 - M Mavrommati, Karditsa Diava, Kalabaka Greek no - RCC - PALB2 PALB2 1 4 Despoina Kalfakakou
00020571 - M Kalamata - Greek no - RCC - - APC, FANCA, MET, MSH6, PMS1, PMS2, SLX4 10 1 Despoina Kalfakakou
00020572 - M Athens Samos Greek no - RCC - - BRIP1, CDKN2A, ERCC3, ERCC5, EZH2, FANCA, NSD1, PTCH1, RECQL4, RET, TSC2, WRN 15 1 Despoina Kalfakakou
00020573 - M Gergeri, Crete - Greek no - RCC - - FANCC, FLCN 2 1 Despoina Kalfakakou
00020574 - M Chios - Greek no - RCC, RenLes - - ATM, DIS3L2, EGFR, EXT2, FANCI, NF1, RUNX1, TSC1 10 1 Despoina Kalfakakou
00020575 - F Volos - Greek no - BBT, HMGM, PanLes, RCC, RenLes - VHL VHL 1 2 Despoina Kalfakakou
00020727 - F - - Greek no - ADNM, CC, RCC, TRC - - CHEK2 1 1 Despoina Kalfakakou
00020760 - F Edessa - Greek no - GIST, RCC - - ATM, CDKN1C, CHEK2, DICER1, ERCC3, FANCD2, PMS2, RB1 11 1 Despoina Kalfakakou
00020774 - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - ColPol, NF, RCC, Schw - - FANCL, MSH6, NBN, PRF1, PRKAR1A, RB1, SLX4, TP53 10 1 Despoina Kalfakakou
00020782 - F Epiniana, Evrytania - Greek no - HMGM, Pheo, PNCA2, RCC - - BLM, DIS3L2, EXT2, FANCA, FANCG, PTCH1, RAD51D, RECQL4, SDHAF2, TSC2 11 1 Despoina Kalfakakou
00020814 - F Samos - Greek no - BrCa, PNCA2, RCC - - ALK, BRCA2, BUB1B, DIS3L2, FANCI, MSH6, RHBDF2, TSC2 10 1 Despoina Kalfakakou
00020818 - M Kea - Greek no - CRC, RCC, TRC - - ALK, BRCA2, MET, MSH6, PALB2, RAD51C, TSC2 10 2 Despoina Kalfakakou
00020908 - M Paramythia, Thesprotia Magoula, Laconia Greek no - LuCa, RCC, TRC - - APC, ATM, CEP57, CHEK2, ERCC2, MUTYH, NSD1, XPC 11 1 Despoina Kalfakakou
00020935 - M Triantafyllia, Serres Pontus Greek no - ADNM, AML, HypPT, RCC, TRC - - AIP, CDH1, DICER1, EPCAM, KIT, PALB2, PTCH1, SUFU, TSC1 10 1 Despoina Kalfakakou
00020959 - M Zakynthos Kyllini, Ilia Greek no - CMM3, LuCa, RCC - - ALK, ATM, CDH1, ERCC3, ERCC5, MLH1, NBN 8 1 Despoina Kalfakakou
00021148 - F Athens Nafplion Greek no - OVCA, RCC - BRCA1 BRCA1 1 1 Despoina Kalfakakou
00021992 - F - - - no - BrCa, CRC, RCC - - ERCC5, FANCI, MLH1, PALB2 4 1 Despoina Kalfakakou
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