Preferred Name |
Carney-Stratakis syndrome |
|
Synonyms |
Carney dyad |
|
Definitions |
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_97286 |
|
alternative_term |
Carney dyad Paraganglioma and gastric stromal sarcoma Carney-Stratakis dyad GIST-paraganglioma dyad |
|
definition |
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 |
|
has_age_of_onset |
Adolescent Adult |
|
has_inheritance |
Autosomal dominant |
|
hasDbXref |
ICD-11:2F7A.0 OMIM:606864 MeSH:C564650 ICD-10:D44.8 UMLS:C1847319 |
|
label |
Carney-Stratakis syndrome |
|
notation |
ORPHA:97286 |
|
part_of | ||
prefixIRI |
ORDO:Orphanet_97286 |
|
prefLabel |
Carney-Stratakis syndrome |
|
present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 20.0 (Family) |
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treeView | ||
subClassOf |