Disease #01503 (pheochromocytoma (pheochromocytoma), OMIM:171300)

Official abbreviation pheochromocytoma
Name pheochromocytoma
OMIM ID 171300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 146
Phenotype entries for this disease 142
Associated with 8 genes GDNF, KIF1B, MAX, RET, SDHB, SDHD, TMEM127, VHL
Associated tissues -
Disease features -
Remarks -


Individuals

146 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 white - 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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