Acrodysostosis 1 with or without hormone resistance: genes and variants
Acrodysostosis 1 with or without hormone resistance is linked to 1 analyzed protein (PRKAR1A). 2 DNA variants are known to cause it; 28 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Acrodysostosis 1 with or without hormone resistance
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.
2 disease-causing and 28 uncertain variants in PRKAR1A are linked to Acrodysostosis 1 with or without hormone resistance.
Known disease-causing variants in Acrodysostosis 1 with or without hormone resistance
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRKAR1A Y207C | 207 | Disease-causing | |
| PRKAR1A R335P | 335 | Disease-causing |
Same protein, different disease
- Carney complex is also caused by PRKAR1A variants; they fall mostly in different places as the Acrodysostosis 1 with or without hormone resistance variants (5 disease-causing).
Diseases related to Acrodysostosis 1 with or without hormone resistance
- Amelogenesis imperfecta, also linked to PRKAR1A
- Carney complex, also linked to PRKAR1A
Frequently asked questions
Which genes are linked to Acrodysostosis 1 with or without hormone resistance?
In CATVariant, Acrodysostosis 1 with or without hormone resistance is linked to 1 analyzed protein: PRKAR1A (cAMP-dependent protein kinase type I-alpha regulatory subunit).
How many genetic variants are linked to Acrodysostosis 1 with or without hormone resistance?
37 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 28 are of uncertain significance or have conflicting reports.
Which uncertain variants in Acrodysostosis 1 with or without hormone resistance 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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