Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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

http://www.orpha.net/ORDO/Orphanet_100094

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)

treeView

http://www.orpha.net/ORDO/Orphanet_100094

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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