Details of Disease

General Information of Disease (ID: DISP3P3F)

Disease Name Carney-Stratakis syndrome
Synonyms
paraganglioma and gist; paraganglioma and gastrointestinal stromal tumour; paraganglioma and gastrointestinal stromal tumor; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; paraganglioma and gastric stromal sarcoma; Carney-Stratakis dyad; gist-paraganglioma dyad; Carney dyad; Carney-Stratakis syndrome
Definition Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
Disease Hierarchy
DISQNN82: Multiple polyglandular tumor
DISGXLG5: Hereditary neoplastic syndrome
DISP3P3F: Carney-Stratakis syndrome
Disease Identifiers
MONDO ID
MONDO_0011740
MESH ID
C564650
UMLS CUI
C1847319
OMIM ID
606864
MedGen ID
376098
Orphanet ID
97286
SNOMED CT ID
722377004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE11A TTTWC79 Strong Genetic Variation [1]
SDHD TTVH9W8 Strong Autosomal dominant [2]
SDHD TTVH9W8 Strong Genetic Variation [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE8B OT4217NK Strong Genetic Variation [1]
SDHC OTC8G2MX Strong Autosomal dominant [2]
SDHD OTYZ8XRH Strong Autosomal dominant [2]
SDHB OTRE1M1T Definitive Mitochondrial [4]
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References

1 Multiple endocrine neoplasias: advances and challenges for the future.J Intern Med. 2009 Jul;266(1):1-4. doi: 10.1111/j.1365-2796.2009.02108.x.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With SDHC Germline Mutation and Bilateral Renal and Neck Cysts.Pediatr Dev Pathol. 2019 May-Jun;22(3):265-268. doi: 10.1177/1093526618805354. Epub 2018 Oct 9.
4 Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):380-4. doi: 10.1007/s10024-004-8090-y. Epub 2004 Jul 15.