Statements (34)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
syndrome |
gptkbp:affects |
gptkb:skin
gptkb:nervous_system heart endocrine glands |
gptkbp:alsoKnownAs |
LAMB syndrome
NAME syndrome |
gptkbp:associatedWith |
gptkb:Cushing_syndrome
acromegaly |
gptkbp:diagnosedBy |
genetic testing
clinical criteria |
gptkbp:eponymOf |
J. Aidan Carney
|
gptkbp:firstDescribed |
1985
J. Aidan Carney |
https://www.w3.org/2000/01/rdf-schema#label |
Carney complex
|
gptkbp:ICD-10_code |
Q87.8
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:mutationAssociatedWith |
PRKAR1A gene
|
gptkbp:OMIM |
160980
|
gptkbp:prevalence |
rare
|
gptkbp:riskFactor |
increased risk of malignancy
|
gptkbp:symptom |
pituitary adenoma
adrenal tumors cardiac myxoma endocrine overactivity myxomas schwannomas spotty skin pigmentation testicular tumors |
gptkbp:treatment |
hormonal therapy
surgical removal of tumors |
gptkbp:bfsParent |
gptkb:Carney
|
gptkbp:bfsLayer |
6
|