Disease #01503

Official abbreviation pheochromocytoma
Name pheochromocytoma
OMIM ID 171300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 143
Phenotype entries for this disease 139
Associated with 8 genes GDNF, KIF1B, MAX, RET, SDHB, SDHD, TMEM127, VHL
Associated tissues -
Disease features -
Remarks -


Individuals

143 entries on 2 pages. Showing entries 1 - 100.
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00072388 - - 1 family 1 affected - - France - - 0 - - pheochromocytoma - SDHB SDHB 1 2 Jean-Pierre Bayley
00072406 - - 1 family 1 affected - - Australia - - 0 - - pheochromocytoma Metastatic SDHB SDHB 1 1 Jean-Pierre Bayley
00072431 - - - F - Italy - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Tonino Ercolino
00072439 - - 2 families 7 affected - - United States - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Jean-Pierre Bayley
00072446 - - 1 isolated case - - Serbia - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Jovana Vignjevic
00072736 - - - - - Netherlands - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Esther Korpershoek
00072737 - - - - - - - - 0 - - pheochromocytoma Malignant SDHB SDHB 1 1 Esther Korpershoek
00072776 - - 5 SDHB heterozygotes in this family have remained clinically asymptomatic to at least age 68y. The index case is the only affected individual with extra-adrenal pheo at age 37. - - Netherlands; United States; Canada - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Laura Palma
00072778 - - 1 family 10 affected; 1 isolated case - - Italy - - 0 - - pheochromocytoma Malignant SDHB SDHB 1 1 Francesca Schiavi
00072779 - - 1 family 4 affected - - Italy - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Francesca Schiavi
00072781 - - 1 family - - Italy - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Francesca Schiavi
00072792 - - 1 isolated case - - Spain - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Jean-Pierre Bayley
00072793 - - 1 isolated case - - Spain - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Jean-Pierre Bayley
00072949 - - 1 isolated case - - Japan - - 0 - - pheochromocytoma - SDHB SDHB 1 1 Jean-Pierre Bayley
00089016 - PubMed: Schlisio 2008, PubMed: Yeh 2008 3-generation family, 2 affecteds - - United States - - 0 - - pheochromocytoma see paper; pheochromocytoma, ... KIF1B KIF1B 1 2 Johan den Dunnen
00090181 - PubMed: Hoekstra Adrenal pheocromocytoma F ? Germany Caucasian - 0 - - pheochromocytoma - SDHB SDHB 1 1 Jean-Pierre Bayley
00096031 - PubMed: Qin 2010 - F no ? (unknown) white - 0 yes surgery pheochromocytoma - TMEM127 TMEM127 1 1 Patricia Dahia
00100332 25800244-FamProband PubMed: Hernandez 2015, Journal: Hernandez 2015 2-generation family, affected mother and 3 heterozygous carrier sons F ? Canada - - 0 - left adrenalectomy and partial nephrectomy pheochromocytoma, RCC multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son SDHB, TMEM127, VHL SDHB, TMEM127 2 4 Shahida Flores
00103834 21685915-FamCPat924 PubMed: Comino-Méndez2011 3-generation family, affected brother/sister F no Italy white - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; malignant; Unkown familial antecedents; Tumor 2nd hit: uniparental disomy; Exclusive paternal MEG3 allele detection MAX MAX 1 2 Alberto Cascon
00103835 21685915-FamCPat922 PubMed: Comino-Méndez2011 - M no - - - 0 - - pheochromocytoma Non-malignant MAX MAX 1 1 Alberto Cascon
00103836 21685915-FamDPat190 PubMed: Comino-Méndez2011 - M - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; non-malignant; No familial antecedents; Tumor 2nd hit: 14q loss; exclusive paternal MEG3 allele detection MAX MAX 1 1 Alberto Cascon
00103837 21685915-FamFPat368 PubMed: Comino-Méndez2011 no familial antecedents F - - - - 0 - - pheochromocytoma Malignant MAX MAX 1 1 Alberto Cascon
00103838 21685915-FamAPat3121 PubMed: Comino-Méndez2011 3-generation family, 4 affecteds (2F, 2M) M - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; non-malignant MAX MAX 1 4 Alberto Cascon
00103839 21685915-FamAPat3119 PubMed: Comino-Méndez2011 - M - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; non-malignant MAX MAX 1 1 Alberto Cascon
00103840 21685915-FamAPat1090 PubMed: Comino-Méndez2011 - F - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; non-malignant MAX MAX 1 1 Alberto Cascon
00103841 21685915-FamAPat3122 PubMed: Comino-Méndez2011 - F - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; non-malignant MAX MAX 1 1 Alberto Cascon
00103842 21685915-FamEPat1016 PubMed: Comino-Méndez2011 - F - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; non-malignant; Paternal familial antecedents; Tumor 2nd hit: 14q loss; Exclusive paternal MEG3 allele detection MAX MAX 1 1 Alberto Cascon
00103843 21685915-FamHPatF31S PubMed: Comino-Méndez2011 - F - - - - 0 - - pheochromocytoma Non-malignant; Paternal familial antecedents; Tumor 2nd hit; uniparental disomy; exclusive paternal MEG3 allele detection MAX MAX 1 1 Alberto Cascon
00103844 21685915-FamB PubMed: Comino-Méndez2011 - M - - - - 0 - - pheochromocytoma bilateral adrenal pheochromocytoma; malignant MAX MAX 1 1 Alberto Cascon
00103845 21685915-FamG PubMed: Comino-Méndez2011 no familial antecedents F - - - - 0 - - pheochromocytoma Non-malignant MAX MAX 1 1 Alberto Cascon
00103956 15_PD PubMed: Yao 2010 - F - United States - - 0 - - pheochromocytoma no family history, benign adrenal tumor, tumor DNA not tested for LOH RET, SDHB, SDHC, SDHD, TMEM127, VHL TMEM127 1 1 Shahida Flores
00103957 9_PD PubMed: Yao 2010 - F - United States - - 0 - - pheochromocytoma benign adrenal tumor, LOH in tumor RET, SDHB, SDHC, SDHD, TMEM127, VHL TMEM127 1 1 Shahida Flores
00103958 2_PD PubMed: Yao 2010 - F - United States - - 0 - - pheochromocytoma benign adrenal tumor, no family history, acrocyanosis RET, SDHB, SDHC, SDHD, TMEM127, VHL TMEM127 1 1 Shahida Flores
00144452 - PubMed: Yu 2017 - F ? United States - 64y 0 - Rt adrenalectomy pheochromocytoma Breast Cancer Diabetes mellitus type 2 Hypertension Hypothyroidism - - 0 1 Patricia Dahia
00144456 - PubMed: Yao 2010 - F ? Italy - - 0 - - pheochromocytoma - - - 0 1 Patricia Dahia
00144457 - PubMed: Yao 2010 - F ? Italy - - 0 - - pheochromocytoma - - - 0 1 Patricia Dahia
00144458 - PubMed: Yao 2010 - M - Italy - - 0 - - pheochromocytoma - - - 0 1 Patricia Dahia
00144459 - PubMed: Yao 2010 - F ? Spain - - 0 - - pheochromocytoma - - - 0 1 Patricia Dahia
00144514 - PubMed: Yao 2010 - M ? United Kingdom (Great Britain) - - 0 - - pheochromocytoma - - - 0 1 Patricia Dahia
00144630 - PubMed: Yao 2010 - F ? Belgium - - 0 - - pheochromocytoma - - - 0 1 Patricia Dahia
00144664 - PubMed: Qin 2010 - F ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144665 - PubMed: Yao 2010 - F ? Italy - - 0 - - pheochromocytoma Papillary thyroid carcinoma, medullary thyroid hyperplasia - - 0 1 Gustavo Armaiz-Pena
00144666 - PubMed: Qin 2010 - F ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144667 - PubMed: Qin 2010 - F ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144668 - PubMed: Yao 2010 - M ? Italy - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144669 - PubMed: Yao 2010 - M ? Italy - - 0 - - pheochromocytoma Bone marrow failure - - 0 1 Gustavo Armaiz-Pena
00144670 - PubMed: Yao 2010 - F ? Brazil - - 0 - - pheochromocytoma Macrovascular disease - - 0 1 Gustavo Armaiz-Pena
00144679 - PubMed: Qin 2010 - F ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144885 - PubMed: Qin 2010 - F ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144886 - PubMed: Qin 2010 - M ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144920 - PubMed: Qin 2010 - F ? ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00144921 - PubMed: Qin 2010 - M ? ? (unknown) - - 0 - - pheochromocytoma - TMEM127 - 0 1 Gustavo Armaiz-Pena
00152696 - PubMed: Flynn 2016 - M - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152697 - - - M - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152699 - PubMed: Takeichi 2012 - M - Japan - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152700 - PubMed: Flynn 2016 - ? - - - - 0 - - pheochromocytoma - TMEM127 - 0 1 Gustavo Armaiz-Pena
00152701 - PubMed: Papathomas 2015 - F - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152708 - PubMed: Lefebvre 2012 - ? - ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152709 - PubMed: Lefebvre 2012 - ? - ? (unknown) - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152710 - PubMed: Lefebvre 2012 - ? - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00152711 - PubMed: Lefebvre 2012 - - - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154379 - PubMed: Lefebvre 2012 - - - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154380 - PubMed: Abemil 2012 - F - - - - 0 - - pheochromocytoma Epinephrine secreter - - 0 1 Gustavo Armaiz-Pena
00154381 - PubMed: Abermil 2012 - F - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154382 - PubMed: Abermil 2012 - M - - - - 0 - - pheochromocytoma Epinephrine secreter - - 0 1 Gustavo Armaiz-Pena
00154383 - PubMed: Abermil 2012 - M - - - - 0 - - pheochromocytoma Epinephrine secreter - - 0 1 Gustavo Armaiz-Pena
00154384 - PubMed: Abermil 2012 - F - - - - 0 - - pheochromocytoma Epinephrine secreter - - 0 1 Gustavo Armaiz-Pena
00154387 - PubMed: Burnichon 2011 - F - - - - 0 - - pheochromocytoma Epinephrine secreter - - 0 1 Gustavo Armaiz-Pena
00154388 - PubMed: Papathomas 2015 - - - Spain - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154389 - PubMed: Papathomas 2015 - F - Netherlands - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154390 - PubMed: Patocs 2016 - ? - Hungary - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154391 - PubMed: Pactos 2016 - ? - Hungary - - 0 - - PGL, pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154392 - PubMed: Pactos 2016 - ? - Hungary - - 0 - - pheochromocytoma head and neck paragangliomas - - 0 1 Gustavo Armaiz-Pena
00154393 - PubMed: Pactos 2016 - ? - Hungary - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154394 - PubMed: Casey 2014 Dopamine secretor M - Ireland - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00154395 - PubMed: King 2015 - M - - - - 0 - - pheochromocytoma No pheochromocytoma. Craniopharyngioma - - 0 1 Gustavo Armaiz-Pena
00154396 - PubMed: Hernandez 2015 Epinephrine secreter F - - - - 0 - - pheochromocytoma Renal cell carcinoma - - 0 1 Gustavo Armaiz-Pena
00154397 - PubMed: Qin 2014 - ? - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00164780 - PubMed: Yao 2010 - M - United Kingdom (Great Britain) - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164782 - PubMed: Yao 2010 - F - Italy - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164783 - PubMed: Yao 2010 - M - Italy - - 0 - - pheochromocytoma Bone marrow failure TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164785 - PubMed: Yao 2010 - F - Brazil - - 0 - - pheochromocytoma Macrovascular disease TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164786 - PubMed: Qin 2010 - F - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164788 - PubMed: Yao 2010 - - - Italy - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164789 - PubMed: Qin 2010 - F - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164790 - PubMed: Qin 2010 - M - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164791 - PubMed: Qin 2010 - F - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164795 - PubMed: Yao 2010 - F - Spain - - 0 - - pheochromocytoma Breast Cancer TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164797 - PubMed: Qin 2010 - F - - - - 0 - - pheochromocytoma Epi, norepi secretion TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164798 - PubMed: Qin 2010 - F - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164799 - PubMed: Yao 2010 - F - Belgium - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164800 - PubMed: Yao 2010 - M - Italy - - 0 - - pheochromocytoma Diffuse metastases TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164801 - PubMed: Qin 2014 - ? - - - - 0 - - pheochromocytoma - - - 0 1 Gustavo Armaiz-Pena
00164803 - PubMed: Yao 2010 - F - Italy - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164806 - PubMed: Qin 2010 - F - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164807 - Journal: Deng 2017 - F - - - - 0 - - pheochromocytoma RCC Epinephrine secreter TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164808 - PubMed: Yao 2010 - F - Italy - - 0 - - pheochromocytoma Papillary thyroid carcinoma, medullary thyroid hyperplasia TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164809 - PubMed: Lefebvre 2012 - ? - - - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164811 - PubMed: Bausch 2017 - F - United States - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
00164812 - PubMed: Bausch 2017 - M - United States - - 0 - - pheochromocytoma - TMEM127 TMEM127 1 1 Gustavo Armaiz-Pena
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