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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

94 tests are in the database for this condition.

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Clinical tests (93 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

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Imported from Human Phenotype Ontology (HPO)

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