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.
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AscendingIndividual ID     

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Disease     

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00015430 - F Megara - Greek no - BrCa, Pheo - - - 0 1 Despoina Kalfakakou
00020475 - F - - Greek no - PanLes, Pheo, RCC, RenLes - - - 0 4 Despoina Kalfakakou
00020489 - M Amfilochia Arta Greek no - Pheo, RCC - - - 0 1 Despoina Kalfakakou
00020493 - F Nikisiani, Drama - Greek no - BBT, HMGM, PanLes, Pheo - - - 0 9 Despoina Kalfakakou
00020513 - M Pontokomi, Kozani Kordelio, Thessaloniki Greek no - ADNM, Pheo, RCC - - - 0 2 Despoina Kalfakakou
00020521 - F Naxos Crete Greek no - BBT, BKT, Pheo - - - 0 1 Despoina Kalfakakou
00020580 - M - - Greek no - MNGM, OBT, Pheo, TRC - - - 0 3 Despoina Kalfakakou
00020588 - M Klio, Mitilini - Greek no - HypPT, Pheo, TRC - - - 0 1 Despoina Kalfakakou
00020592 - F Kefalonia - Greek no - Pheo - - - 0 1 Despoina Kalfakakou
00020729 - F - - Greek no - Pheo - - - 0 1 Despoina Kalfakakou
00020734 - F Kozani - Greek no - CAL, GIST, NF, Pheo - - BAP1, ERCC4, FANCE, KIT, MLH1, MUTYH, NF1, PTCH1, SDHB, SUFU 12 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 17 1 Despoina Kalfakakou
00020776 - F Kalamata - Greek no - Pheo - - ATM, BRCA1, BRCA2, CEP57, ERCC3, EZH2, GATA2, GPC3, MLH1, NF1, PMS1, SLX4, TSC1 17 1 Despoina Kalfakakou
00020782 - F Epiniana, Evrytania - Greek no - HMGM, Pheo, PNCA2, RCC - - BLM, DIS3L2, EXT2, FANCA, FANCG, PTCH1, RAD51D, RECQL4, SDHAF2, TSC2 12 1 Despoina Kalfakakou
00020821 - F Mousoura, Missolonghi - Greek no - Pheo - - ATM, BRCA2, CHEK2, DICER1, FANCA, FANCD2, FANCI, NF1, SLX4 17 1 Despoina Kalfakakou
00020844 - M Rhodes - Greek no - Pheo - - BRCA2, ERCC4, EXT2, HNF1A, KIT, RECQL4 7 1 Despoina Kalfakakou
00020848 - F Albania - Greek no - Pheo - - ALK, CDH1, FANCM, RECQL4, RUNX1, SMAD4, WRN 11 1 Despoina Kalfakakou
00020873 - M Nisyros Constantinople Greek no - CAL, HypPT, NDL, Pheo - - ALK, BAP1, BRCA2, BUB1B, DIS3L2, ERCC2, MLH1, NF1, PTCH1, RB1, SUFU 15 2 Despoina Kalfakakou
00020883 - F Asia Minor Pontus Greek no - Pheo - - ATM, BMPR1A, CHEK2, EGFR, ERCC2, FANCB, PMS2, TP53, TSC2, XPA 14 1 Despoina Kalfakakou
00020909 - M Ariada, Etolia-Akarnania - Greek no - PGL2, Pheo - - CYLD, ERCC3, ERCC4, FANCA, FANCD2, FANCE, KIT, NF1, NSD1, RET 14 1 Despoina Kalfakakou
00020940 - M Syria - Syrian no - Pheo - - AIP, APC, BRCA2, FANCA, FANCC, FANCD2, FANCL, MLH1, MSH6, NBN, PTCH1, RB1, RHBDF2, WT1 16 1 Despoina Kalfakakou
00020944 - F Limni, Euboea - Greek no - Pheo - - ALK, APC, ATM, BRCA2, PMS2, RECQL4, TSC2, WRN 11 1 Despoina Kalfakakou
00020949 - M Astros, Kynouria Amfilochia Greek no - Pheo - - AIP, BLM, CHEK2, DIS3L2, EXT1, FANCE, MSH6, PTCH1, RB1, RECQL4, SMARCB1 13 1 Despoina Kalfakakou
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