Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the endocrine system (HP:0100568)help
Grandparent Node:
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Neoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
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Neuroendocrine neoplasm (HP:0100634)help
..Starting node
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Pheochromocytoma (HP:0002666)help
Term ID: 2666
Name: Pheochromocytoma
Synonym: Chromaffin tumors; Chromaffin tumours
Definition: Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Comments:
Reference: HP:0002666
Genes and Diseases:
 
       Child Nodes:
........expandExtraadrenal pheochromocytoma (HP:0006737) help
........expandAdrenal pheochromocytoma (HP:0006748) help

 Sister Nodes: 
..expandCarcinoid tumor (HP:0100570) help
..expandPancreatic endocrine tumor (HP:0030405) help
..expandParaganglioma (HP:0002668) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002666HP:0002666Pheochromocytoma0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0002666HP:0002666Pheochromocytoma0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0002666HP:0002666Pheochromocytoma0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0002666HP:0002666Pheochromocytoma0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0002666HP:0002666Pheochromocytoma0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0002666HP:0002666Pheochromocytoma0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0002666HP:0002666Pheochromocytoma0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0002666HP:0002666Pheochromocytoma0DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0002666HP:0002666Pheochromocytoma0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0002666HP:0002666Pheochromocytoma0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0002666HP:0002666Pheochromocytoma0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0002666HP:0002666Pheochromocytoma0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0002666HP:0002666Pheochromocytoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0002666HP:0002666Pheochromocytoma0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0002666HP:0002666Pheochromocytoma0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0002666HP:0002666Pheochromocytoma0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0002666HP:0002666Pheochromocytoma0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0002666HP:0002666Pheochromocytoma0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0002666HP:0002666Pheochromocytoma0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0002666HP:0002666Pheochromocytoma0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0002666HP:0002666Pheochromocytoma0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0002666HP:0002666Pheochromocytoma0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0002666HP:0002666Pheochromocytoma0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0002666HP:0002666Pheochromocytoma0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0002666HP:0002666Pheochromocytoma0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0002666HP:0002666Pheochromocytoma0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0002666HP:0002666Pheochromocytoma0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0002666HP:0002666Pheochromocytoma0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0002666HP:0002666Pheochromocytoma0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0002666HP:0002666Pheochromocytoma0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0002666HP:0002666Pheochromocytoma0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0002666HP:0002666Pheochromocytoma0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0002666HP:0002666Pheochromocytoma0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0002666HP:0002666Pheochromocytoma0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0002666HP:0002666Pheochromocytoma0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0002666HP:0002666Pheochromocytoma0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0002666HP:0002666Pheochromocytoma0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0002666HP:0002666Pheochromocytoma0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0002666HP:0002666Pheochromocytoma0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0002666HP:0002666Pheochromocytoma0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0002666HP:0002666Pheochromocytoma0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0002666HP:0002666Pheochromocytoma0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0002666HP:0002666Pheochromocytoma0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0002666HP:0002666Pheochromocytoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0002666HP:0002666Pheochromocytoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0002666HP:0002666Pheochromocytoma0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0002666HP:0002666Pheochromocytoma0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0002666HP:0002666Pheochromocytoma0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0002666HP:0002666Pheochromocytoma0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0002666HP:0002666Pheochromocytoma0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0002666HP:0006748Adrenal pheochromocytoma1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0002666HP:0006748Adrenal pheochromocytoma1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0002666HP:0006737Extraadrenal pheochromocytoma1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0002666HP:0006737Extraadrenal pheochromocytoma1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent44
HP:0002666HP:0006748Adrenal pheochromocytoma1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent44
HP:0002666HP:0006748Adrenal pheochromocytoma1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent112
HP:0002666HP:0006737Extraadrenal pheochromocytoma1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent112
HP:0002666HP:0006737Extraadrenal pheochromocytoma1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent301
HP:0002666HP:0006748Adrenal pheochromocytoma1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent301
HP:0002666HP:0006737Extraadrenal pheochromocytoma1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent202
HP:0002666HP:0006748Adrenal pheochromocytoma1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent202
HP:0002666HP:0006748Adrenal pheochromocytoma1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent84
HP:0002666HP:0006737Extraadrenal pheochromocytoma1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent84
HP:0002666HP:0006737Extraadrenal pheochromocytoma1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent4
HP:0002666HP:0006748Adrenal pheochromocytoma1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent4
HP:0002666HP:0006748Adrenal pheochromocytoma1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent1952
HP:0002666HP:0006737Extraadrenal pheochromocytoma1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent1952
HP:0002666HP:0006748Adrenal pheochromocytoma1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent572
HP:0002666HP:0006737Extraadrenal pheochromocytoma1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent572
HP:0002666HP:0006748Adrenal pheochromocytoma1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent572
HP:0002666HP:0006737Extraadrenal pheochromocytoma1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent572
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent304
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent304
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent55
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent55
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent237
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent237
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent237
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent237
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent147
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent147
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent129
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent129
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0002666HP:0006748Adrenal pheochromocytoma1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent129
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent129
HP:0002666HP:0006737Extraadrenal pheochromocytoma1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0002666HP:0006748Adrenal pheochromocytoma1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0002666HP:0006737Extraadrenal pheochromocytoma1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent131
HP:0002666HP:0006748Adrenal pheochromocytoma1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent131
HP:0002666HP:0006748Adrenal pheochromocytoma1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent490
HP:0002666HP:0006737Extraadrenal pheochromocytoma1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent490
HP:0002666HP:0006737Extraadrenal pheochromocytoma1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent490
HP:0002666HP:0006748Adrenal pheochromocytoma1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent490
HP:0002666HP:0006748Adrenal pheochromocytoma1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490


Genes (28) :CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DLST DNMT3A EPAS1 FH HRAS IFNG KIF1B MAX MDH2 MEN1 NF1 PRKAR1A RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TSC1 TSC2 VHL

Diseases (17) :ORPHA:892 OMIM:193300 ORPHA:652 ORPHA:29072 OMIM:618475 ORPHA:276621 ORPHA:2874 ORPHA:805 OMIM:171300 ORPHA:97685 OMIM:162200 OMIM:160980 OMIM:171400 OMIM:162300 OMIM:115310 OMIM:605373 OMIM:168000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.