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carney-complex
Carney Complex
Carney complex is caused by germline PRKAR1A mutations; spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease (PPNAD) causing Cushing syndrome, pituitary GH adenomas, and Sertoli cell tumors; annual cardiac MRI surveillance.
Entry Metadata
| Field | Value |
|---|---|
| ID | carney-complex |
| Name | Carney Complex |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toPrkar1A
connects-toCortisol
connects-toNeuroendocrine Tumors
connects-toPheochromocytoma Paraganglioma
connects-toHeart
connects-toAdrenal Gland
connects-toIgf 1
connects-toEndocrine System
connects-toSkin
connects-toMen1 Syndrome
connects-toThyroid Cancer
connects-toSchwannomatosis
connects-toGrowth Hormone
Sources
- Bertherat J, Horvath A, Groussin L, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009;94(6):2085-2091. · PubMed 19293268
- Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26(1):89-92. · PubMed 10973256