Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
Carney-Stratakis dyad
|
| gptkbp:characterizedBy |
gptkb:gastrointestinal_stromal_tumor
paraganglioma |
| gptkbp:differentialDiagnosis |
gptkb:Carney_triad
|
| gptkbp:firstDescribed |
2002
J. Aidan Carney Constantine Stratakis |
| gptkbp:hasOrphanetID |
ORPHA:209980
|
| https://www.w3.org/2000/01/rdf-schema#label |
Carney-Stratakis syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SDHB_gene
gptkb:SDHC_gene gptkb:SDHD_gene |
| gptkbp:OMIM |
606864
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
abdominal pain
hypertension gastrointestinal bleeding palpitations |
| gptkbp:bfsParent |
gptkb:gastrointestinal_stromal_tumor
|
| gptkbp:bfsLayer |
7
|