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Trait

Paraganglioma

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.

HPO HP:0002668

Summary

Also called
Carotid body tumors, Carotid body tumours, Paragangliomas
Body system
Abnormality of the endocrine systemAbnormality of the nervous systemAbnormal tissue mass

19 genes linked to Paraganglioma

Changes in these genes cause rare conditions in which Paraganglioma is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
SDHAsuccinate dehydrogenase complex flavoprotein subunit AAlwaysIn 4 conditions
SDHCsuccinate dehydrogenase complex subunit CAlwaysIn 5 conditions
SLC25A11solute carrier family 25 member 11AlwaysIn 2 conditions
DLSTdihydrolipoamide S-succinyltransferaseVery often (80–99%)In 2 conditions
DNMT3ADNA methyltransferase 3 alphaVery often (80–99%)In 1 condition
EPAS1endothelial PAS domain protein 1Very often (80–99%)In 1 condition
FHfumarate hydrataseVery often (80–99%)In 1 condition
KIF1Bkinesin family member 1BVery often (80–99%)In 1 condition
MAXMYC associated transcriptional regulator XVery often (80–99%)In 1 condition
MDH2malate dehydrogenase 2Very often (80–99%)In 1 condition
NF1neurofibromin 1Very often (80–99%)In 1 condition
RETret proto-oncogeneVery often (80–99%)In 2 conditions
SDHAF2succinate dehydrogenase complex assembly factor 2Very often (80–99%)In 1 condition
SDHBsuccinate dehydrogenase complex iron sulfur subunit BVery often (80–99%)In 6 conditions
SDHDsuccinate dehydrogenase complex subunit DVery often (80–99%)In 5 conditions
TMEM127transmembrane protein 127Very often (80–99%)In 1 condition
VHLvon Hippel-Lindau tumor suppressorVery often (80–99%)In 4 conditions
ATRXATRX chromatin remodelerRarely (1–4%)In 1 condition
CCND1cyclin D1Rarely (1–4%)In 2 conditions

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Neuroendocrine neoplasm

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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