Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm of the endocrine system (HP:0100568)help
Grandparent Node:
expand
Neoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
expand
Neuroendocrine neoplasm (HP:0100634)help
..Starting node
..expand
Paraganglioma (HP:0002668)help
Term ID: 2668
Name: Paraganglioma
Synonym: Carotid body tumors; Carotid body tumours; Paragangliomas
Definition: A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Comments:
Reference: HP:0002668
Genes and Diseases:
 
       Child Nodes:
........expandParaganglioma of head and neck (HP:0002864) help
................... HP:0002886 Vagal paraganglioma
................... HP:0003001 Glomus jugular tumor
................... HP:0006715 Glomus tympanicum paraganglioma
................... HP:0100635 Carotid paraganglioma
........expandChemodectoma (HP:0030074) help
........expandPulmonary paraglioma (HP:0100636) help

 Sister Nodes: 
..expandCarcinoid tumor (HP:0100570) help
..expandPancreatic endocrine tumor (HP:0030405) help
..expandPheochromocytoma (HP:0002666) 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:0002668HP:0002668Paraganglioma0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0002668HP:0002668Paraganglioma0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare1
HP:0002668HP:0002668Paraganglioma0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0002668HP:0002668Paraganglioma0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0002668HP:0002668Paraganglioma0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0002668HP:0002668Paraganglioma0DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0002668HP:0002668Paraganglioma0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent44
HP:0002668HP:0002668Paraganglioma0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent112
HP:0002668HP:0002668Paraganglioma0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent301
HP:0002668HP:0002668Paraganglioma0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent202
HP:0002668HP:0002668Paraganglioma0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent84
HP:0002668HP:0002668Paraganglioma0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent4
HP:0002668HP:0002668Paraganglioma0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0002668HP:0002668Paraganglioma0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent1952
HP:0002668HP:0002668Paraganglioma0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent572
HP:0002668HP:0002668Paraganglioma0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent572
HP:0002668HP:0002668Paraganglioma0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent304
HP:0002668HP:0002668Paraganglioma0SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0002668HP:0002668Paraganglioma0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent55
HP:0002668HP:0002668Paraganglioma0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0002668HP:0002668Paraganglioma0SDHB CL E G H639010681OMIM:606864Carney-Stratakis syndrome.237
HP:0002668HP:0002668Paraganglioma0SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndromeHP:0040281 - Very frequent237
HP:0002668HP:0002668Paraganglioma0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent237
HP:0002668HP:0002668Paraganglioma0SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002668HP:0002668Paraganglioma0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent237
HP:0002668HP:0002668Paraganglioma0SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndromeHP:0040281 - Very frequent147
HP:0002668HP:0002668Paraganglioma0SDHC CL E G H639110682OMIM:606864Carney-Stratakis syndrome.147
HP:0002668HP:0002668Paraganglioma0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent147
HP:0002668HP:0002668Paraganglioma0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0002668HP:0002668Paraganglioma0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040284 - Very rare129
HP:0002668HP:0002668Paraganglioma0SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndromeHP:0040281 - Very frequent129
HP:0002668HP:0002668Paraganglioma0SDHD CL E G H639210683OMIM:606864Carney-Stratakis syndrome.129
HP:0002668HP:0002668Paraganglioma0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent129
HP:0002668HP:0002668Paraganglioma0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0002668HP:0002668Paraganglioma0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent129
HP:0002668HP:0002668Paraganglioma0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0002668HP:0002668Paraganglioma0SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0002668HP:0002668Paraganglioma0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent131
HP:0002668HP:0002668Paraganglioma0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent490
HP:0002668HP:0002668Paraganglioma0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent490
HP:0002668HP:0002668Paraganglioma0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare490
HP:0002668HP:0002668Paraganglioma0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0002668HP:0100636Pulmonary paraglioma1 CL E G H
HP:0002668HP:0002864Paraganglioma of head and neck1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002668HP:0002864Paraganglioma of head and neck1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0002668HP:0002864Paraganglioma of head and neck1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0002668HP:0002864Paraganglioma of head and neck1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0002668HP:0002864Paraganglioma of head and neck1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0002668HP:0002864Paraganglioma of head and neck1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0002668HP:0002864Paraganglioma of head and neck1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0002668HP:0002864Paraganglioma of head and neck1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0002668HP:0002864Paraganglioma of head and neck1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0002668HP:0002864Paraganglioma of head and neck1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0002668HP:0002864Paraganglioma of head and neck1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0002668HP:0002864Paraganglioma of head and neck1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0002668HP:0002864Paraganglioma of head and neck1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0002668HP:0030074Chemodectoma1SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0002668HP:0002864Paraganglioma of head and neck1SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0002668HP:0002864Paraganglioma of head and neck1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0002668HP:0030074Chemodectoma1SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002668HP:0002864Paraganglioma of head and neck1SDHB CL E G H639010681OMIM:115310Paragangliomas 4HP:0040283 - Occasional237
HP:0002668HP:0002864Paraganglioma of head and neck1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0002668HP:0002864Paraganglioma of head and neck1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0002668HP:0002864Paraganglioma of head and neck1SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0002668HP:0030074Chemodectoma1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0002668HP:0002864Paraganglioma of head and neck1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0002668HP:0002864Paraganglioma of head and neck1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0002668HP:0030074Chemodectoma1SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0002668HP:0002864Paraganglioma of head and neck1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0002668HP:0002864Paraganglioma of head and neck1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002668HP:0002864Paraganglioma of head and neck1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0002668HP:0002864Paraganglioma of head and neck1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0002668HP:0002864Paraganglioma of head and neck1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0002668HP:0100635Carotid paraganglioma2 CL E G H
HP:0002668HP:0003001Glomus jugular tumor2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0002668HP:0006715Glomus tympanicum paraganglioma2SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0002668HP:0002886Vagal paraganglioma2SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0002668HP:0003001Glomus jugular tumor2SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0002668HP:0003001Glomus jugular tumor2SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002668HP:0003001Glomus jugular tumor2SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0002668HP:0003001Glomus jugular tumor2SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0002668HP:0006715Glomus tympanicum paraganglioma2SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0002668HP:0002886Vagal paraganglioma2SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129


Genes (20) :ATRX CCND1 DAXX DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (16) :ORPHA:100075 ORPHA:892 OMIM:193300 ORPHA:29072 OMIM:618475 ORPHA:276621 ORPHA:97685 OMIM:614165 OMIM:601650 OMIM:606864 ORPHA:97286 OMIM:115310 OMIM:605373 ORPHA:100093 OMIM:168000 OMIM:618464
 

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