Previous symbols: PRKAR1, TSE1, PKR1, Prkar1alpha. Aliases: CNC1.
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 |
|---|---|---|
| Acrodysostosis | causative germline |
mechanism: PRKAR1A Activation-Resistant PKA Holoenzymes
subtype: Type 1
scoped to subtype: Type 1
|
| Carney Complex | causative germlinesomatic loss of function |
mechanism: Germline PRKAR1A First-Hit Inactivation; Somatic PRKAR1A Second-Hit Loss of Heterozygosity
|
| Familial Nonmedullary Thyroid Carcinoma | causative germline | |
| Primary Pigmented Nodular Adrenocortical Disease | causative germline |
mechanism: PRKAR1A Loss and Constitutive PKA Activation
subtype: PPNAD1
scoped to subtype: PPNAD1
|
| Testicular Sex Cord-Stromal Neoplasm | risk factor germline and somatic |
mechanism: cAMP/PKA Pathway Activation
subtype: Large-Cell Calcifying Sertoli Cell Tumor
|
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 |
|---|---|---|---|
| Carney complex, type 1 MONDO:0008057 | AD | Definitive 2018-12-21 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.