Carney-Stratakis syndrome

Summary
Definition
A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0080533
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6391 SDHC succinate dehydrogenase complex subunit C
6392 SDHD succinate dehydrogenase complex subunit D
Displaying 1 entry
Gene ID Gene Symbol Description Source
66052 Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
298596 Sdhb succinate dehydrogenase complex iron sulfur subunit B
The Human Phenotype Ontology
Displaying entry 11 - 11 of 11 in total
HPO ID HPO Term
HP:0007378 Neoplasm of the gastrointestinal tract
Displaying all 3 entries
Gene ID Gene Symbol Description
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D
6391 SDHC succinate dehydrogenase complex subunit C

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024