Carney complex, type 1
MONDO:0008057Mondo
Findings
No curated finding names Carney complex, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.
Definition from the Mondo Disease Ontology (MONDO:0008057), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal obesityHPOHP:0012743
- 1 of 1 reported patient
- Adrenocorticotropic hormone deficiencyHPOHP:0011748
- 1 of 1 reported patient
- Cutaneous myxomaHPOHP:0030428
- 1 of 1 reported patient
- Dermal translucencyHPOHP:0010648
- 1 of 1 reported patient
- Dorsocervical fat padHPOHP:0025383
- 1 of 1 reported patient
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
Show the remaining 13
- Lip hyperpigmentationHPOHP:0100816
- 1 of 1 reported patient
- Macronodular adrenal hyperplasiaHPOHP:0008231
- 1 of 1 reported patient
- Moon faciesHPOHP:0500011
- 1 of 1 reported patient
- Palatine myxomaHPOHP:0034941
- 1 of 1 reported patient
- Pigmented micronodular adrenocortical diseaseHPOHP:0001580
- 2 of 2 reported patients
- Pituitary hypothyroidismHPOHP:0008245
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRKAR1AHGNC:9388
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Carney complex, type 1
- Also called
- Carney complex caused by mutation in PRKAR1APRKAR1A Carney complex