Sporadic pheochromocytoma/secreting paraganglioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic pheochromocytoma/secreting paraganglioma | |
| fr | Phéochromocytome/paragangliome sécrétant sporadique | |
| de | Sporadisches Phaeochromozytom/sezernierendes Paragangliom | |
| es | Feocromocitoma esporádico/paraganglioma secretor | |
| it | Feocromocitoma/paraganglioma secernente sporadico | |
| nl | Sporadisch feochromocytoom/secreterend paraganglioom | |
| pt | Feocromocitoma esporádico/paraganglioma secretor | |
| pl | Guz chromochłonny/przyzwojak wydzielający sporadyczny | |
| cs | Sporadický feochromocytom/sekretující paragangliom | |
| uk | Спорадична феохромоцитома/секретуюча парагангліома | |
| zh | 散发性嗜铬细胞瘤/分泌性副神经节瘤 | |
| tr | Sporadik feokromositom/salgılayıcı paragangliom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C74.1 | NTBT | attributed | validated |
| ICD-10 | D35.0 | NTBT | attributed | validated |
| ICD-11 | 5A75 | NTBT | attributed | validated |
| MONDO | 0017190 | E | validated | |
| UMLS | C4707333 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:573163Pheochromocytoma-paraganglioma
rare endocrine diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:276624OBSOLETE: Sporadic pheochromocytoma referred to · inactive
- ORPHA:276627OBSOLETE: Sporadic secreting paraganglioma referred to · inactive
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNMT3A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2978 | ENSG00000119772 | 602769 | 2p23.3 | DNA methyltransferase 3 alpha | 29740169[PMID] |
| EPAS1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3374 | ENSG00000116016 | 603349 | 2p21 | endothelial PAS domain protein 1 | 23418310[PMID] |
| RET | Major susceptibility factor in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 12000816[PMID] |
| SDHB | Major susceptibility factor in | Assessed | HGNC:10681 | ENSG00000117118 | 185470 | 1p36.13 | succinate dehydrogenase complex iron sulfur subunit B | 12000816[PMID] |
| SDHD | Major susceptibility factor in | Assessed | HGNC:10683 | ENSG00000204370 | 602690 | 11q23.1 | succinate dehydrogenase complex subunit D | 12000816[PMID] |
| VHL | Major susceptibility factor in | Assessed | HGNC:12687 | ENSG00000134086 | 608537 | 3p25.3 | von Hippel-Lindau tumor suppressor | 12000816[PMID]_27539324[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
HPO phenotypes
46 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:0001638 | Cardiomyopathy | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0002019 | Constipation | |
| HP:0001293 | Cranial nerve compression | |
| HP:0000790 | Hematuria | |
| HP:0003074 | Hyperglycemia | |
| HP:0100735 | Hypertensive crisis | |
| HP:0012819 | Myocarditis | |
| HP:0000980 | Pallor | |
| HP:0025269 | Panic attack | |
| HP:0000083 | Renal insufficiency | |
| HP:0001337 | Tremor | |
| HP:0001605 | Vocal cord paralysis | |
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]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276621
- This record as JSON: /data/d/276621.json