Search for a rare disease
Other search option(s)
Multiple paragangliomas associated with polycythemia
Disease definition
A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.
ORPHA:324299
Classification level: Disorder- Synonym(s):
- Multiple paragangliomas associated with erythrocytosis
- Paraganglioma-somatostatinoma-polycythemia syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Childhood
- ICD-10: D75.1
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2005) - Br J Haematol
- Français (2021) - PNDS
- Anesthesia guidelines
- English (2016) - Orphananesthesia
Disease review articles
- Review article
- English (2006) - Orphanet J Rare Dis
Genetic Testing
- Guidance for genetic testing
- Français (2015, pdf) - ANPGM
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.