pheochromocytoma/paraganglioma syndrome 5
Findings
No curated finding names pheochromocytoma/paraganglioma syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.
Definition from the Mondo Disease Ontology (MONDO:0013602), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- ParagangliomaHPOHP:0002668
- 2 of 2 reported patients
Genes
1 gene
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.
- SDHAHGNC:10680
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: pheochromocytoma/paraganglioma syndrome 5
- Also called
- paraganglioma caused by mutation in SDHAparagangliomas 5paragangliomas type 5SDHA paraganglioma