Carney complex: genes and variants
Carney complex is linked to 1 analyzed protein (PRKAR1A). 5 DNA variants are known to cause it; 285 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Carney complex, type 1
Genes linked to Carney complex
PRKAR1A: cAMP-dependent protein kinase type I-alpha regulatory subunit
It restrains protein kinase A activity in the absence of cyclic AMP and thereby controls a wide range of endocrine and growth signals. Germline loss-of-function variants cause Carney complex, with endocrine overactivity, spotty pigmentation, myxomas, and multiple tumor predispositions.
5 disease-causing and 285 uncertain variants in PRKAR1A are linked to Carney complex.
Known disease-causing variants in Carney complex
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRKAR1A D269G | 269 | Disease-causing (★★) | |
| PRKAR1A R335C | 335 | Disease-causing (★★) | |
| PRKAR1A M1V | 1 | Dimerization and phosphorylation | Disease-causing (★★) |
| PRKAR1A T239A | 239 | Disease-causing (★) | |
| PRKAR1A F293I | 293 | Disease-causing (★) |
Diseases related to Carney complex
- Amelogenesis imperfecta, also linked to PRKAR1A
- Acrodysostosis 1 with or without hormone resistance, also linked to PRKAR1A
Frequently asked questions
Which genes are linked to Carney complex?
In CATVariant, Carney complex is linked to 1 analyzed protein: PRKAR1A (cAMP-dependent protein kinase type I-alpha regulatory subunit).
How many genetic variants are linked to Carney complex?
307 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 285 are of uncertain significance or have conflicting reports.
Which uncertain variants in Carney complex look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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