ORPHA:29072
Hereditary pheochromocytoma-paraganglioma
Synonyms: Familial pheochromocytoma-paraganglioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary pheochromocytoma-paraganglioma | Familial pheochromocytoma-paraganglioma |
| fr | Phéochromocytome-paragangliome héréditaire | Phéochromocytome-paragangliome familial |
| de | Phäochromozytom-Paragangliom-Syndrom, hereditäres | Phaeochromozytom-Paragangliom-Syndrom, familiäres |
| es | Feocromocitoma-paraganglioma hereditario | Feocromocitoma-paraganglioma familiar |
| it | Feocromocitoma - paraganglioma, ereditario | Feocromocitoma - paraganglioma, familiare |
| nl | Hereditair feochromocytoom-paraganglioom | Erfelijk feochromocytoom-paraganglioom · Familiaal feochromocytoom-paraganglioom |
| pt | Feocromocitomas-paraganglioma hereditário | |
| pl | Dziedziczny zespół guza chromochłonnego i przyzwojaków | Rodzinny guz chromochłonny - przyzwojak |
| cs | Hereditární feochromocytom a paragangliom | Familiární feochromocytom a paragangliom |
| uk | Спадкова феохромоцитома-парагангліома | Сімейна феохромоцитома-парагангліома |
| zh | 遗传性嗜铬细胞瘤-副神经节瘤 | 家族性嗜铬细胞瘤-副神经节瘤 |
| tr | Kalıtsal feokromositoma-paraganglioma | Ailesel feokromositoma-paraganglioma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115310 | BTNT | validated | |
| OMIM | 168000 | BTNT | validated | |
| OMIM | 171300 | BTNT | validated | |
| OMIM | 601650 | BTNT | validated | |
| OMIM | 605373 | BTNT | validated | |
| OMIM | 614165 | BTNT | validated | |
| OMIM | 618464 | BTNT | validated | |
| OMIM | 618475 | BTNT | validated | |
| ICD-10 | C74.1 | NTBT | attributed | validated |
| ICD-10 | C75.5 | NTBT | attributed | validated |
| ICD-10 | D35.0 | NTBT | attributed | validated |
| ICD-10 | D35.6 | NTBT | attributed | validated |
| ICD-11 | 5A75 | NTBT | attributed | validated |
| MONDO | 0017366 | E | validated | |
| UMLS | C4274332 | E | validated | |
| GARD | 11984 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:271847Genetic neuroendocrine tumor
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:573163Pheochromocytoma-paraganglioma
rare endocrine diseases; rare neoplastic diseases - ORPHA:183637Rare genetic adrenal disease
rare genetic diseases
No children.
4
Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RET | Candidate gene tested in | Not yet assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 23551045[PMID]_24375508[PMID] |
| TMEM127 | Candidate gene tested in | Not yet assessed | HGNC:26038 | ENSG00000135956 | 613403 | 2q11.2 | transmembrane protein 127 | 21156949[PMID] |
| FH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3700 | ENSG00000091483 | 136850 | 1q43 | fumarate hydratase | 24334767[PMID]_25004247[PMID] |
| KIF1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16636 | ENSG00000054523 | 605995 | 1p36.22 | kinesin family member 1B | 18334619[PMID] |
| DLST | Disease-causing germline mutation(s) in | Assessed | HGNC:2911 | ENSG00000119689 | 126063 | 14q24.3 | dihydrolipoamide S-succinyltransferase | 31051110[PMID] |
| MAX | Disease-causing germline mutation(s) in | Assessed | HGNC:6913 | ENSG00000125952 | 154950 | 14q23.3 | MYC associated transcriptional regulator X | 20301715[PMID] |
| MDH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6971 | ENSG00000146701 | 154100 | 7q11.23 | malate dehydrogenase 2 | 25766404[PMID] |
| NF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 30536464[PMID] |
| SDHA | Disease-causing germline mutation(s) in | Assessed | HGNC:10680 | ENSG00000073578 | 600857 | 5p15.33 | succinate dehydrogenase complex flavoprotein subunit A | 20301715[PMID] |
| SDHAF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26034 | ENSG00000167985 | 613019 | 11q12.2 | succinate dehydrogenase complex assembly factor 2 | 20301715[PMID] |
| SDHB | Disease-causing germline mutation(s) in | Assessed | HGNC:10681 | ENSG00000117118 | 185470 | 1p36.13 | succinate dehydrogenase complex iron sulfur subunit B | 20301715[PMID] |
| SDHC | Disease-causing germline mutation(s) in | Assessed | HGNC:10682 | ENSG00000143252 | 602413 | 1q23.3 | succinate dehydrogenase complex subunit C | 20301715[PMID] |
| SDHD | Disease-causing germline mutation(s) in | Assessed | HGNC:10683 | ENSG00000204370 | 602690 | 11q23.1 | succinate dehydrogenase complex subunit D | 20301715[PMID] |
| SLC25A11 | Disease-causing germline mutation(s) in | Assessed | HGNC:10981 | ENSG00000108528 | 604165 | 17p13.2 | solute carrier family 25 member 11 | 29431636[PMID] |
| VHL | Disease-causing germline mutation(s) in | Assessed | HGNC:12687 | ENSG00000134086 | 608537 | 3p25.3 | von Hippel-Lindau tumor suppressor | 9215674[PMID]_19574279[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | Not yet validated | 20301715[PMID]_23162105[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
51 annotations · validated 2026-01-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006748 | Adrenal pheochromocytoma | |
| HP:0006737 | Extraadrenal pheochromocytoma | |
| HP:0002668 | Paraganglioma | |
| Frequent (79-30%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0100749 | Chest pain | |
| HP:0001618 | Dysphonia | |
| HP:0011979 | Elevated urinary dopamine | |
| HP:0003639 | Elevated urinary epinephrine | |
| HP:0003345 | Elevated urinary norepinephrine | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0001069 | Episodic hyperhidrosis | |
| HP:0000740 | Episodic paroxysmal anxiety | |
| HP:0012378 | Fatigue | |
| HP:0031284 | Flushing | |
| HP:0000096 | Glomerulosclerosis | |
| HP:0003072 | Hypercalcemia | |
| HP:0000822 | Hypertension | |
| HP:0002640 | Hypertension associated with pheochromocytoma | |
| HP:0001095 | Hypertensive retinopathy | |
| HP:0002018 | Nausea | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0001962 | Palpitations | |
| HP:0002864 | Paraganglioma of head and neck | |
| HP:0010532 | Paroxysmal vertigo | |
| HP:0003574 | Positive regitine blocking test | |
| HP:0000093 | Proteinuria | |
| HP:0008629 | Pulsatile tinnitus | |
| HP:0002331 | Recurrent paroxysmal headache | |
| HP:0011703 | Sinus tachycardia | |
| HP:0001279 | Syncope | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0031500 | Abdominal mass | |
| HP:0012222 | Arachnoid hemangiomatosis | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0002019 | Constipation | |
| HP:0001293 | Cranial nerve compression | |
| HP:0003528 | Elevated calcitonin | |
| HP:0000790 | Hematuria | |
| HP:0003074 | Hyperglycemia | |
| HP:0100735 | Hypertensive crisis | |
| HP:0012819 | Myocarditis | |
| HP:0000980 | Pallor | |
| HP:0025269 | Panic attack | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0000083 | Renal insufficiency | |
| HP:0009711 | Retinal capillary hemangioma | |
| HP:0001337 | Tremor | |
| HP:0001605 | Vocal cord paralysis | |
| Very rare (<4-1%) | ||
| HP:0000526 | Aniridia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 39735644[PMID]_36218060[PMID]_37115176[PMID]_17200167[PMID]_24893135[PMID]_19628817[PMID]_22948026[PMID]_17102067[PMID]_9509062[PMID]_17940110[PMID]_12000821[PMID]_17940110[PMID]_20503330[PMID]_12574179[PMID]_11502790[PMID]_9509062[PMID]_5015920[PMID]_20260947[PMID]_4340974[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/29072
- This record as JSON: /data/d/29072.json