pheochromocytoma/paraganglioma syndrome 1
Findings
No curated finding names pheochromocytoma/paraganglioma syndrome 1 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 SDHD 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:0008192), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 features
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.
- Adrenal pheochromocytomaHPOHP:0006748
- 27 of 49 reported patients
- Extraadrenal pheochromocytomaHPOHP:0006737
- 12 of 24 reported patients
- Paraganglioma of head and neckHPOHP:0002864
- 6 of 49 reported patients
- Carotid paragangliomaHPOHP:0100635
- 2 of 25 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.
- SDHDHGNC:10683
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
6 names
Resolves to: pheochromocytoma/paraganglioma syndrome 1
- Also called
- paraganglioma caused by mutation in SDHDparagangliomas 1paragangliomas 1, with or without deafnessparagangliomas type 1SDHD paragangliomaSDHD-related tumor predisposition