pheochromocytoma/paraganglioma syndrome 3
Findings
No curated finding names pheochromocytoma/paraganglioma syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
Definition from the Mondo Disease Ontology (MONDO:0011544), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
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
- 5 of 5 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.
- SDHCHGNC:10682
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: pheochromocytoma/paraganglioma syndrome 3
- Also called
- paraganglioma caused by mutation in SDHCparagangliomas 3paragangliomas type 3SDHC paragangliomaSDHC-related tumor predisposition