pheochromocytoma/paraganglioma syndrome 2
MONDO:0011121Mondo
Findings
No curated finding names pheochromocytoma/paraganglioma syndrome 2 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 SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.
Definition from the Mondo Disease Ontology (MONDO:0011121), read 2026-09-29. CC BY 4.0.
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.
- SDHAF2HGNC:26034
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: pheochromocytoma/paraganglioma syndrome 2
- Also called
- paraganglioma caused by mutation in SDHAF2paragangliomas 2paragangliomas type 2SDHAF2 paragangliomaSDHAF2-related tumor predisposition