Genopathy
Gene-Disorder Association · Article
Gene
PRKAR1A
Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha
Disorder
Carney Complex, Type 1
First reported 2007
Supporting publications 49
Key publication · gene–disorder Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).Journal of pediatric endocrinology & metabolism : JPEM · 2007
Key publication · disorder Lentiginosis and left atrial myxoma.British heart journal · 1973
Manually curated
Association Review

In brief

The association between PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha) and Carney Complex, Type 1 is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 5
Clinical variants 940
Symptoms 33
Compounds 0
Trials 0
Publications 49
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PRKAR1A

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Carney Complex, Type 1

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

18 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

940 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

49 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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10
Provenance

References & sources

18 references

Every source and publication cited across this dossier, as one numbered reference list.

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