PRKACA

protein kinase cAMP-activated catalytic subunit alpha

4 disorders 2 somatic driver 2 causative 19p13.12 gene with protein product

HGNC:9380 Monarch NCBI Gene 5566 ENSG00000072062 UniProt P17612 OMIM 601639

Aliases: PKACa.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Adrenal Cortex Adenoma	somatic driver somatic	mechanism: PRKACA Catalytic Subunit Activation subtype: Cortisol-Producing scoped to subtype: Cortisol-Producing
Fibrolamellar Hepatocellular Carcinoma	somatic driver somatic	mechanism: Chromosome 19 Deletion Creating the DNAJB1-PRKACA Fusion
Hypothalamic Hamartoma with Gelastic Seizures	causative somatic	mechanism: Somatic Sonic Hedgehog Pathway Mutation
Primary Pigmented Nodular Adrenocortical Disease	causative germline	mechanism: PRKACA Copy-Number Gain and Constitutive PKA Catalytic Activation subtype: PPNAD4 scoped to subtype: PPNAD4

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
cardioacrofacial dysplasia MONDO:0031386	AD	Moderate 2026-09-02	no dismech entry

Mechanism modules · computed from kb/

cardiac_camp_pka_calcium_handling named in the module itself
sustaining_proliferative_signaling via Fibrolamellar Hepatocellular Carcinoma

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.