hereditary pheochromocytoma-paraganglioma
Findings
No curated finding names hereditary pheochromocytoma-paraganglioma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).
Definition from the Mondo Disease Ontology (MONDO:0017366), read 2026-09-29. CC BY 4.0.
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adrenal pheochromocytomaHPOHP:0006748
- Very frequent (80% to 99% of cases)
- Extraadrenal pheochromocytomaHPOHP:0006737
- Very frequent (80% to 99% of cases)
- ParagangliomaHPOHP:0002668
- Very frequent (80% to 99% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- DysphoniaHPOHP:0001618
- Frequent (30% to 79% of cases)
- Elevated urinary dopamine levelHPOHP:0011979
- Frequent (30% to 79% of cases)
- Elevated urinary epinephrine levelHPOHP:0003639
- Frequent (30% to 79% of cases)
- Elevated urinary norepinephrine levelHPOHP:0003345
- Frequent (30% to 79% of cases)
- Episodic abdominal painHPOHP:0002574
- Frequent (30% to 79% of cases)
- Episodic hyperhidrosisHPOHP:0001069
- Frequent (30% to 79% of cases)
- Episodic paroxysmal anxietyHPOHP:0000740
- Frequent (30% to 79% of cases)
Show the remaining 39
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- FlushingHPOHP:0031284
- Frequent (30% to 79% of cases)
- Glomerular sclerosisHPOHP:0000096
- Frequent (30% to 79% of cases)
- HypercalcemiaHPOHP:0003072
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Hypertension associated with pheochromocytomaHPOHP:0002640
- Frequent (30% to 79% of cases)
Genes
16 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAXHGNC:6913
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- SDHAHGNC:10680
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- SDHAF2HGNC:26034
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- SDHBHGNC:10681
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (9)
- MAX-related tumor predisposition
- pheochromocytoma/paraganglioma syndrome 1
- pheochromocytoma/paraganglioma syndrome 2
- pheochromocytoma/paraganglioma syndrome 3
- pheochromocytoma/paraganglioma syndrome 4
- pheochromocytoma/paraganglioma syndrome 5
- pheochromocytoma/paraganglioma syndrome 6
- pheochromocytoma/paraganglioma syndrome 7
- TMEM127-related tumor predisposition
Other names
2 names
Resolves to: hereditary pheochromocytoma-paraganglioma
- Also called
- familial pheochromocytoma-paragangliomahereditary paraganglioma-pheochromocytoma syndrome