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Carney complex
Pathology:
1) myxomas, cardiac & skin
2) pituitary adenoma
a) Cushing's syndrome (ACTH)
b) acromegaly (GH-secreting) {20%}
3) testicular Sertoli cell tumors
4) pigmented micronodular adrenal hyperplasia
5) spotty cutaneous pigmentation
6) myxoid fibroadenomas, breast
7) psammomatous melanotic schwannomas
Genetics:
1) type 1 associated with defects in PRKAR1A gene
2) chromosomal aberration (microsatellite instability) 2p16 (type 2)
3) variant form associated with defects in MYH8
4) telomere alteration ?
Specific
Carney complex 1
Carney complex 2
General
hereditary neoplastic syndrome; cancer susceptibility syndrome
Properties
ASSOCIATED-NEOPLASM[S]: myxoma
pituitary adenoma
schwannoma
fibroadenoma
pheochromocytoma
Database Correlations
OMIM correlations
References
- Harrison's Online, Chapter 328, McGraw-Hill, 2002
- UniProt :accession P10644