Disease #00087

Official abbreviation Pheo
Name Pheochromocytoma, susceptibility to
OMIM ID 171300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 6 genes MAX, RET, SDHB, SDHD, TMEM127, VHL
Associated tissues -
Disease features -
Remarks -


Individuals

23 entries on 1 page. Showing entries 1 - 23.
Legend  

AscendingIndividual ID     
Reference     
Gender     
Geographic origin     
Geographic origin     
Population     
Consanguinity     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00015430 - F Megara - Greek no - BrCa, Pheo - - - 0 1 Despoina Kalfakakou
00020489 - M Amfilochia Arta Greek no - Pheo, RCC - VHL - 0 1 Despoina Kalfakakou
00020493 - F Nikisiani, Drama - Greek no - BBT, HMGM, PanLes, Pheo - VHL VHL 1 9 Despoina Kalfakakou
00020513 - M Pontokomi, Kozani Kordelio, Thessaloniki Greek no - ADNM, Pheo, RCC - VHL VHL 1 2 Despoina Kalfakakou
00020521 - F Naxos Crete Greek no - BBT, BKT, Pheo - VHL - 0 1 Despoina Kalfakakou
00020580 - M - - Greek no - MNGM, OBT, Pheo, TRC - - ATM 1 3 Despoina Kalfakakou
00020588 - M Klio, Mitilini - Greek no - HypPT, Pheo, TRC - RET - 0 1 Despoina Kalfakakou
00020592 - F Kefalonia - Greek no - Pheo - RET - 0 1 Despoina Kalfakakou
00020729 - F - - Greek no - Pheo - SDHB, SDHC, SDHD - 0 1 Despoina Kalfakakou
00020734 - F Kozani - Greek no - CAL, GIST, NF, Pheo - - BAP1, ERCC4, FANCE, KIT, MLH1, MUTYH, NF1, PTCH1, SDHB, SUFU 11 1 Despoina Kalfakakou
00020766 - F Milies, Euboea Krioneritis, Euboea Greek no - PGL2, Pheo - - ATM, BLM, FANCE, FANCI, FANCM, FLCN, MLH1, MSH6, NBN, RECQL4, RET, TSC1, TSC2 16 1 Despoina Kalfakakou
00020776 - F Kalamata - Greek no - Pheo - - ATM, BRCA1, BRCA2, CEP57, ERCC3, EZH2, GATA2, GPC3, MLH1, PMS1, SLX4, TSC1 14 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
00020821 - F Mousoura, Missolonghi - Greek no - Pheo - - ATM, BRCA2, CHEK2, DICER1, FANCA, FANCD2, FANCI, SLX4 15 1 Despoina Kalfakakou
00020844 - M Rhodes - Greek no - Pheo - - BRCA2, ERCC4, EXT2, HNF1A, KIT, RECQL4 6 1 Despoina Kalfakakou
00020848 - F Albania - Greek no - Pheo - - ALK, CDH1, FANCM, RECQL4, RUNX1, SMAD4, WRN 10 1 Despoina Kalfakakou
00020873 - M Nisyros Constantinople Greek no - CAL, HypPT, NDL, Pheo - - ALK, BAP1, BRCA2, BUB1B, DIS3L2, ERCC2, MLH1, NF1, PTCH1, RB1, SUFU 14 2 Despoina Kalfakakou
00020883 - F Asia Minor Pontus Greek no - Pheo - - ATM, BMPR1A, CHEK2, EGFR, ERCC2, FANCB, PMS2, TP53, TSC2, XPA 13 1 Despoina Kalfakakou
00020909 - M Ariada, Etolia-Akarnania - Greek no - PGL2, Pheo - - CYLD, ERCC3, ERCC4, FANCA, FANCD2, FANCE, KIT, NSD1, RET 11 1 Despoina Kalfakakou
00020940 - M Syria - Syrian no - Pheo - - AIP, APC, BRCA2, FANCA, FANCC, FANCD2, FANCL, MLH1, MSH6, NBN, PTCH1, RB1, RHBDF2, WT1 15 1 Despoina Kalfakakou
00020944 - F Limni, Euboea - Greek no - Pheo - - ALK, APC, ATM, BRCA2, PMS2, RECQL4, TSC2, WRN 10 1 Despoina Kalfakakou
00020949 - M Astros, Kynouria Amfilochia Greek no - Pheo - - AIP, BLM, CHEK2, DIS3L2, EXT1, FANCE, MSH6, PTCH1, RB1, RECQL4, SMARCB1 12 1 Despoina Kalfakakou
00021994 - M Negades, Zagori Ioannina Greek - - Pheo - - BAP1, BRCA1, BUB1B, CDC73, ERCC2, FANCA, FLCN, PRKAR1A, RECQL4 10 1 Despoina Kalfakakou
Legend  

  Powered by LOVD v.3.0 Build 23
LOVD software ©2004-2020 Leiden University Medical Center 		There is an LOVD update available.