# Carney complex

> autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity

**Wikidata**: [Q1044007](https://www.wikidata.org/wiki/Q1044007)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Carney_complex)  
**Source**: https://4ort.xyz/entity/carney-complex


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients
4. A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer
5. Monarch Disease Ontology release 2018-06-29
6. Freebase Data Dumps. 2013
7. UniProt
8. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/fc16b2a9-c8dc-4a04-a029-2f6af049404d--2018-12-21T15:40:44)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc16b2a9-c8dc-4a04-a029-2f6af049404d-2018-12-21T154044.801Z)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108946/MONDO_0008057)
12. Mutation of perinatal myosin heavy chain associated with a Carney complex variant
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)