EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome
Synonyms: EPAS1-related polycythemia-PPGL syndrome · Paraganglioma-somatostatinoma-polycythemia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome | EPAS1-related polycythemia-PPGL syndrome · Paraganglioma-somatostatinoma-polycythemia syndrome |
| fr | Syndrome de polycythémie-phéochromocytome/paragangliome associé à EPAS1 | Syndrome de polycythémie-PPGL associé à EPAS1 · Syndrome de paragangliome-somatostatinome-polycythémie |
| de | Polyzythämie-Phäochromozytom-/Paragangliom-Syndrom, EPAS1-assoziierts | Paragangliom-Somatostatinom-Polyzythämie-Syndrom · EPAS1-assoziiertes Polyzythämie-PPGL-Syndrom |
| es | Síndrome de policitemia-feocromocitoma/paraganglioma asociado al gen EPAS1 | Síndrome de policitemia-FPGL asociado al gen EPAS1 · Síndrome de paraganglioma-somatostatinoma-policitemia |
| it | Sindrome policitemia-feocromocitoma/paraganglioma correlata a EPAS1 | Sindrome paraganglioma-somatostatinoma-policitemia · Sindrome policitemia-PPGL correlata a EPAS1 |
| nl | EPAS1-gerelateerd polycytemie - feochromocytoom/paraganglioom-syndroom | EPAS1-gerelateerd polycytemie - PPGL-syndroom · Paraganglioom - somatostatinoom - polycytemie-syndroom |
| pt | Paragangliomas múltiplos associados a policitémia | |
| pl | Mnogie przyzwojaki z towarzyszącą policytemią | Mnogie przyzwojaki z towarzyszącą erytrocytozą · Paraganglioma - somatostatinoma - policytemia |
| cs | Mnohočetné paragangliomy asociované s polycytémií | Syndrom zahrnující paragangliom, somatostatinom a polycytémii · Mnohočetné paragangliomy asociované s erytrocytózou |
| uk | Множинні парагангліоми, повязані з поліцитемією | Множинні парагангліоми, повязані з еритроцитозом · Синдром парагангліоми-соматостатиноми-поліцитемії |
| zh | 多发性副神经节瘤伴红细胞增多症 | 副神经节瘤-生长抑素瘤-红细胞增多综合征 |
| tr | Polisitemi ile seyreden bağlı çoklu paragangliomlar | Paraganglioma-somatostatinoma-polisitemi sendromu · Eritrositoz ile ilişkili çoklu paragangliomalar |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D75.1 | NTBT | attributed | validated |
| ICD-11 | 3A81.Y | NTBT | attributed | validated |
| MONDO | 0017926 | E | validated | |
| UMLS | C5679884 | 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 (5):
- ORPHA:98427Erythrocytosis
rare hematological diseases - ORPHA:271847Genetic neuroendocrine tumor
rare genetic diseases - ORPHA:250165Genetic polycythemia
rare genetic diseases - ORPHA:573163Pheochromocytoma-paraganglioma
rare endocrine diseases; rare neoplastic diseases - ORPHA:183637Rare genetic adrenal disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPAS1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3374 | ENSG00000116016 | 603349 | 2p21 | endothelial PAS domain protein 1 | 22931260[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22931260[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324299
- This record as JSON: /data/d/324299.json