Carney complex
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Pathology
- myxomas, cardiac & skin
- pituitary adenoma
- Cushing's syndrome (ACTH)
- acromegaly (GH-secreting) {20%}
- testicular Sertoli cell tumors
- pigmented micronodular adrenal hyperplasia
- spotty cutaneous pigmentation
- myxoid fibroadenomas, breast
- psammomatous melanotic schwannomas
Genetics
- type 1 associated with defects in PRKAR1A gene
- chromosomal aberration (microsatellite instability) 2p16 (type 2)
- variant form associated with defects in MYH8
- telomere alteration ?
More general terms
More specific terms
References
- ↑ Harrison's Online, Chapter 328, McGraw-Hill, 2002
- ↑ UniProt http://www.uniprot.org/uniprot/P10644.html
Patient information
Carney complex patient information