How is Carney complex, type 1 inherited?

Carney complex, type 1 follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Carney complex, type 1 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Carney complex, type 1?

Information about treatment is currently limited for this condition.

What are the potential complications of Carney complex, type 1?

Carney complex, type 1 can lead to various complications due to its impact on multiple body systems. While specific complications are not detailed, the mutation in the PRKAR1A gene may affect how different organs function. It's important for patients to have regular check-ups to monitor for any potential issues related to this condition.

How might Carney complex, type 1 affect daily life?

Living with Carney complex, type 1 may require some adjustments in daily life, especially with regular medical check-ups and monitoring. Since the symptoms and complications can vary, families may need to be prepared for different health challenges. Support from healthcare providers and family can help manage these daily impacts.

What is the prognosis for someone with Carney complex, type 1?

Currently, information about the prognosis for Carney complex, type 1 is limited. Because this condition can affect multiple systems, the outcomes can vary widely among individuals. Ongoing research aims to provide better insights into the long-term outlook for those affected by this rare condition.

Are there any specialists recommended for managing Carney complex, type 1?

While specific specialist recommendations are not provided, it is generally advisable for patients with Carney complex, type 1 to see healthcare providers who are familiar with genetic conditions. This may include geneticists, endocrinologists, or other specialists who can help monitor and manage the various aspects of the condition.

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Carney complex, type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Hormones	4	Pituitary adenoma, Thyroid carcinoma, Elevated circulating growth hormone concentration
Skin	2	Myxoid subcutaneous tumors, Profuse pigmented skin lesions
Heart and blood vessels	2	Cardiac myxoma, Congestive heart failure
Growth and development	1	Elevated circulating growth hormone concentration
Lab test results	1	Elevated circulating growth hormone concentration

GeneReviews

Clinical Guidance

The Carney complex (CNC) of skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas may be evident at birth, although the median age of diagnosis is 20 years. To date, more than 750 individuals have been identified with a pathogenic variant in PRKAR1A. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Carney Complex: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Skin pigment abnormalities	70%	—
Myxomas (cutaneous mucosal)	50%	—
Cardiac myxoma	30%-50%	—
Breast myxoma	30%-50%	—
PPNAD	~25%	—
Somatomammotroph hyperplasia/ GH-producing adenoma	≤75%	—
LCCSCT	50% of males	—
Thyroid tumor(s)	≤75%	Mostly nonfunctioning thyroid follicular adenomas
PMS	~10%	LCCSCT = large cell calcifying Sertoli cell tumor; GH = growth hormone; PMS = psammomatous melanotic schwannoma; PPNAD = primary pigmented nodular adrenocortical disease; Pale brown to black lentigines are the most common presenting feature of CNC and may be present at birth.

Source: GeneReviews — "Carney Complex"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus clinical diagnostic criteria for Carney complex (CNC) have been published . Criteria are reprinted with permission from Elsevier Publishing.

Suggestive Findings

CNC should be suspected in individuals with any of the following major diagnostic criteria with or without additional common findings.

Major diagnostic criteria

Source: GeneReviews — "Carney Complex"

GeneReviews

Differential Diagnosis

Genes of interest in the differential diagnosis of Carney complex (CNC) are summarized in . Table 3. Genes of Interest in the Differential Diagnosis of Carney Complex

Gene/ Genetic Mechanism	Disorder	MOI	Selected Features of Disorder Overlapping w/Carney Complex	Distinguishing Features/ Comment
Abnormal regulation of gene transcription in BWS critical region1	Beckwith-Wiedemann syndrome (BWS)	See footnote 1.	Adrenal cortical tumors

Genetic testing for PRKAR1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Carney complex, type 1 has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Carney complex, type 1. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Carney complex (CNC), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Carney Complex: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Cardiac myxomas	Echocardiogram	Beginning in childhood
Cutaneous myxomas	Clinical exam for cutaneous myxomas	—
PPNAD	Urinary free cortisol levels	Beginning in adolescence; Diurnal cortisol levels (11:30 pm, 12:00 am, 7:30 am; 8:00 am sampling); Dexamethasone stimulation test (modified Liddle's test)1; Adrenal CT exam
Pituitary adenomas	Serum IGF-1 levels	Beginning in adolescence; Pituitary MRI; Three-hour oral glucose tolerance test; 90-minute thyrotropin-releasing hormone testing
Thyroid tumors	Thyroid ultrasonography	Beginning in adolescence Testicular tumors
Ovarian tumors	In females, transabdominal US of ovaries	Beginning in adolescence
Psammomatous melanotic schwannoma	Clinical assessment	These tumors may occur anywhere, present w/mass effect signs/symptoms. MRI (brain, spine, chest, abdomen, retroperitoneum, pelvis)
Pancreatic tumors	Abdominal imaging may be required if suggestive clinical signs.	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of Carney complex to facilitate medical personal decision making IGF-1 = insulin-like growth factor 1; MOI = mode of inheritance; PPNAD = primary pigmented nodular adrenocortical disease; US = ultrasound 1. 2.
Carney Complex: Recommended Surveillance System/Concern	Evaluation	Frequency
Cardiac myxomas	Echocardiogram	Annually beginning in childhood (prior to puberty); Biannually for those w/history of excised cardiac myxoma
Cutaneous myxomas	Clinical exam for cutaneous myxomas	As needed
PPNAD	Urinary free cortisol levels	Annually beginning in adolescence; Diurnal cortisol levels (11:30 pm, 12:00 am, 7:30 am; 8:00 am sampling); Dexamethasone stimulation test (modified Liddle's test)1; Adrenal CT exam
Pituitary adenomas	Serum IGF-1	Annually beginning in adolescence; Pituitary MRI; Three-hour oral glucose tolerance test; 90-minute thyrotropin-releasing hormone testing
Thyroid tumors	Thyroid US	Annually beginning in adolescence
Testicular tumors	Monitoring of growth rate pubertal staging	At each visit beginning in childhood in males Testicular US
Ovarian tumors	Transabdominal US of ovaries	As needed to follow up abnormal findings in females Psammomatous melanotic schwannoma
Pancreatic tumors	Clinical exam for mass effects	As needed IGF-1 = insulin-like growth factor 1; PPNAD = primary pigmented nodular adrenocortical disease; US = ultrasound 1.

Source: GeneReviews — "Carney Complex"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Carney Complex"

Clinical Trials

View trials for Carney complex, type 1

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended for individuals with CNC and at-risk relatives. Table 6. Carney Complex: Recommended Surveillance

System/Concern	Evaluation	Frequency
Cardiac myxomas	Echocardiogram	Annually beginning in childhood (prior to puberty); Biannually for those w/history of excised cardiac myxoma
Cutaneous myxomas	Clinical exam for cutaneous myxomas	As needed
PPNAD	Urinary free cortisol levels	Annually beginning in adolescence; Diurnal cortisol levels (11:30 pm, 12:00 am, 7:30 am; 8:00 am sampling); Dexamethasone stimulation test (modified Liddle's test)1; Adrenal CT exam
Pituitary adenomas	Serum IGF-1	Annually beginning in adolescence; Pituitary MRI; Three-hour oral glucose tolerance test; 90-minute thyrotropin-releasing hormone testing
Thyroid tumors	Thyroid US	Annually beginning in adolescence
Testicular tumors	Monitoring of growth rate pubertal staging	At each visit beginning in childhood in males Testicular US
Ovarian tumors	Transabdominal US of ovaries	As needed to follow up abnormal findings in females Psammomatous melanotic schwannoma
Pancreatic tumors	Clinical exam for mass effects	As needed IGF-1 = insulin-like growth factor 1; PPNAD = primary pigmented nodular adrenocortical disease; US = ultrasound 1.

Source: GeneReviews — "Carney Complex"

Phenotype severity distribution: 1 always present feature, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Carney complex, type 1.

111 publications have been identified in PubMed for Carney complex, type 1. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	47	45%
Research summaries	32	30%
Laboratory research	16	15%
Other research	3	3%
Disease patterns and progression	3	3%
Clinical study results	2	2%
Testing and diagnosis research	1	1%
New treatment approaches	1	1%

Recent Publications

Yüksek Acınıklı K (2026). [PMID: 38084047](https://pubmed.ncbi.nlm.nih.gov/38084047/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Walter E (2026). [PMID: 41768348](https://pubmed.ncbi.nlm.nih.gov/41768348/). *Urol Case Rep*. [Case Report / Case Series]
Maggacis RA (2026). [PMID: 42181030](https://pubmed.ncbi.nlm.nih.gov/42181030/). *Endocr Oncol*. [Review / Meta-Analysis]
Sivarajan R (2026). [PMID: 42093047](https://pubmed.ncbi.nlm.nih.gov/42093047/). *J Med Case Rep*. [Case Report / Case Series]
Feller A (2026). [PMID: 40827961](https://pubmed.ncbi.nlm.nih.gov/40827961/). *Arch Argent Pediatr*. [Case Report / Case Series]
Siegmund SE (2026). [PMID: 42151003](https://pubmed.ncbi.nlm.nih.gov/42151003/). *Semin Diagn Pathol*. [Review / Meta-Analysis]
Advant A (2026). [PMID: 41748126](https://pubmed.ncbi.nlm.nih.gov/41748126/). *J Sch Health*. [Clinical Trial Publication]
Abarca-Rozas B (2026). [PMID: 42205227](https://pubmed.ncbi.nlm.nih.gov/42205227/). *Case Rep Cardiol*. [Case Report / Case Series]
Matwiejuk M (2026). [PMID: 41907289](https://pubmed.ncbi.nlm.nih.gov/41907289/). *Front Med (Lausanne)*. [Review / Meta-Analysis]
Lima Sobrinho JAB (2026). [PMID: 41816209](https://pubmed.ncbi.nlm.nih.gov/41816209/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:160980

GARD

Genetic and Rare Diseases Info Center

GARD:15090

Questions for Your Care Team

→Should I pursue genetic testing for PRKAR1A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Carney complex, type 1

Carney complex, type 1 is a rare condition that is defined by the presence of a mutation in the PRKAR1A gene. This mutation leads to the development of features that may involve multiple body systems. The condition is sometimes referred to by other names such as Carney complex caused by mutation in PRKAR1A, Carney syndrome, and other related names, which reflects its varied clinical presentation.

Information about symptoms is currently limited for this condition.

Carney complex, type 1 is caused by a mutation in the PRKAR1A gene. This genetic change is the defining cause of the condition, although detailed information about other risk factors or the full range of genetic influences is limited. Associated genes include PRKAR1A.

Kisho

Carney complex, type 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Carney complex, type 1

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Carney complex, type 1?

What are the symptoms of Carney complex, type 1?

What causes Carney complex, type 1?

How is Carney complex, type 1 inherited?

How is Carney complex, type 1 diagnosed?

Are there treatments for Carney complex, type 1?

What are the potential complications of Carney complex, type 1?

How might Carney complex, type 1 affect daily life?

What is the prognosis for someone with Carney complex, type 1?

Are there any specialists recommended for managing Carney complex, type 1?