U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Carney-Stratakis syndrome

Carney-Stratakis syndrome

Synonyms
Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Paraganglioma and GIST; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; SDHB-Related Paraganglioma and Gastric Stromal Sarcoma; SDHC-Related Paraganglioma and Gastric Stromal Sarcoma; SDHD-Related Paraganglioma and Gastric Stromal Sarcoma
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. [from SNOMEDCT_US]

Available tests

84 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (83 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP, SDHB
    Summary: succinate dehydrogenase complex iron sulfur subunit B

  • Also known as: CYB560, CYBL, PGL3, PPGL3, QPS1, SDH3, SDHC
    Summary: succinate dehydrogenase complex subunit C

  • Also known as: CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS, SDHD
    Summary: succinate dehydrogenase complex subunit D

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

Reviews

Suggested reading

Clinical resources

Practice guidelines

  • NCCN, 2024
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.