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Complexo de Carney
ORPHA:1359CID-10 · D44.8CID-11 · 5A70.YDOENÇA RARA

O Complexo de Carney (CNC) é caracterizado por manchas na pele, excesso de atividade hormonal e tumores benignos.

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Introdução

O que você precisa saber de cara

📋

O Complexo de Carney (CNC) é caracterizado por manchas na pele, excesso de atividade hormonal e tumores benignos.

Pesquisas ativas
2 ensaios
8 total registrados no ClinicalTrials.gov
Publicações científicas
920 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
750
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D44.8
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
16 sintomas
🧬
Pele e cabelo
8 sintomas
🫃
Digestivo
4 sintomas
😀
Face
3 sintomas
❤️
Coração
2 sintomas
🧠
Neurológico
2 sintomas

+ 37 sintomas em outras categorias

Características mais comuns

90%prev.
Doença adrenocortical micronodular pigmentada
Muito frequente (99-80%)
55%prev.
Aumento da concentração circulante de fator de crescimento semelhante à insulina 1
Frequente (79-30%)
55%prev.
Múltiplas lentigens
Frequente (79-30%)
55%prev.
Adenoma de células produtoras de hormônio do crescimento hipofisárias
Frequente (79-30%)
55%prev.
Neoplasia de células de Sertoli
Frequente (79-30%)
55%prev.
Cisto ovariano
Frequente (79-30%)
77sintomas
Muito frequente (1)
Frequente (17)
Ocasional (37)
Muito raro (9)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 77 características clínicas mais associadas, ordenadas por frequência.

Doença adrenocortical micronodular pigmentadaPigmented micronodular adrenocortical disease
Muito frequente (99-80%)90%
Aumento da concentração circulante de fator de crescimento semelhante à insulina 1Increased circulating insulin-like growth factor 1 concentration
Frequente (79-30%)55%
Múltiplas lentigensMultiple lentigines
Frequente (79-30%)55%
Adenoma de células produtoras de hormônio do crescimento hipofisáriasPituitary growth hormone cell adenoma
Frequente (79-30%)55%
Neoplasia de células de SertoliSertoli cell neoplasm
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico920PubMed
Últimos 10 anos200publicações
Pico202544 papers
Linha do tempo
2026Hoje · 2026🧪 1995Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

PRKAR1AcAMP-dependent protein kinase type I-alpha regulatory subunitDisease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (10)
PKA activationGPER1 signalingCREB1 phosphorylation through the activation of Adenylate CyclaseDARPP-32 eventsHigh laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
MECANISMO DE DOENÇA

Carney complex 1

CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
152.7 TPM
Ovário
151.5 TPM
Aorta
138.6 TPM
Útero
138.3 TPM
Tecido adiposo
129.4 TPM
OUTRAS DOENÇAS (9)
familial atrial myxomapigmented nodular adrenocortical disease, primary, 1Acrodysostosis 1 with or without hormone resistanceCarney complex, type 1
HGNC:9388UniProt:P10644
MYH8Myosin-8Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Muscle contraction

LOCALIZAÇÃO

Cytoplasm, myofibril

VIAS BIOLÓGICAS (1)
Striated Muscle Contraction
MECANISMO DE DOENÇA

Carney complex variant

Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

EXPRESSÃO TECIDUAL(Baixa expressão)
Músculo esquelético
3.9 TPM
Rim - Medula
1.2 TPM
Testículo
0.5 TPM
Rim - Córtex
0.1 TPM
Baço
0.1 TPM
OUTRAS DOENÇAS (2)
trismus-pseudocamptodactyly syndromeCarney complex - trismus - pseudocamptodactyly syndrome
HGNC:7578UniProt:P13535
PDE11ADual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11AModifying germline mutation inTolerante
FUNÇÃO

Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively (PubMed:10725373, PubMed:10906126, PubMed:11050148)

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (2)
G alpha (s) signalling eventscGMP effects
MECANISMO DE DOENÇA

Primary pigmented nodular adrenocortical disease 2

A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.

EXPRESSÃO TECIDUAL(Baixa expressão)
Próstata
4.6 TPM
Brain Spinal cord cervical c-1
3.0 TPM
Testículo
1.8 TPM
Pituitária
1.6 TPM
Músculo esquelético
1.5 TPM
OUTRAS DOENÇAS (4)
pigmented nodular adrenocortical disease, primary, 2isolated micronodular adrenocortical diseaseisolated primary pigmented nodular adrenocortical diseaseCarney complex
HGNC:8773UniProt:Q9HCR9

Variantes genéticas (ClinVar)

350 variantes patogênicas registradas no ClinVar.

🧬 PRKAR1A: NM_002734.5(PRKAR1A):c.192_193del (p.Gln64fs) ()
🧬 PRKAR1A: NM_002734.5(PRKAR1A):c.417_418insGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGTGCTGTTTTCA (p.His140fs) ()
🧬 PRKAR1A: NM_017565.4(FAM20A):c.1310del (p.Arg437fs) ()
🧬 PRKAR1A: NM_002734.5(PRKAR1A):c.440+1del ()
🧬 PRKAR1A: NM_002734.5(PRKAR1A):c.502+2T>C ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,017 variantes classificadas pelo ClinVar.

51
407
559
Patogênica (5.0%)
VUS (40.0%)
Benigna (55.0%)
VARIANTES MAIS SIGNIFICATIVAS
PRKAR1A: NM_002734.5(PRKAR1A):c.192_193del (p.Gln64fs) [Pathogenic]
PRKAR1A: NM_002734.5(PRKAR1A):c.119C>G (p.Thr40Ser) [Uncertain significance]
PRKAR1A: NM_002734.5(PRKAR1A):c.348+5T>G [Uncertain significance]
PRKAR1A: NM_002734.5(PRKAR1A):c.550-5delinsCTA [Uncertain significance]
PRKAR1A: NM_002734.5(PRKAR1A):c.475A>G (p.Ile159Val) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Complexo de Carney

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

8 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
438 papers (10 anos)
#1

cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.

Frontiers in endocrinology2026

The cyclic adenosine monophosphate (cAMP)-protein kinase A (PKA) signaling pathway plays a central role in adrenal function, steroidogenesis, and blood pressure regulation. Increasing evidence suggests that dysregulation of this pathway contributes to several forms of hypertension, both endocrine and non-endocrine. A growing number of germline and somatic alterations affecting components of the cAMP/PKA axis have been implicated as key drivers of hypertensive disorders. Among these, activating pathogenic variants (PV) in GNAS, which encodes the stimulatory G protein α-subunit (Gsα) responsible for cAMP production, have been linked to cortisol excess. Mosaic GNAS PV cause McCune-Albright syndrome, which may present with ACTH-independent Cushing syndrome, while somatic GNAS PV have been identified in cortisol-producing adrenal adenomas. Germline inactivating variants in PRKAR1A are associated with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD). Furthermore, germline alterations in phosphodiesterases such as PDE11A and PDE8B, which impair cAMP degradation, have been associated with Cushing syndrome and micronodular adrenal hyperplasia. Somatic activating PV in PRKACA, the gene encoding the catalytic subunit of PKA, have also been described in cortisol-producing adenomas. In primary aldosteronism, recent studies-including data from our group-suggest that germline variants in PDE2A and PDE3B may contribute to bilateral adrenal hyperplasia and autonomous aldosterone production by modulating intracellular cAMP levels. Additionally, gain-of-function PV in PDE3A have been associated with a familial form of salt-independent hypertension characterized by enhanced PKA signaling and vascular remodeling. This expanding body of evidence underscores the critical role of the cAMP/PKA pathway in the pathophysiology of distinct hypertensive phenotypes and highlights novel molecular mechanisms and potential therapeutic targets that merit further investigation.

#2

A urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.

Urology case reports2026 Mar

Carney complex (CNC) is a rare tumor syndrome caused by mutations in the PRKAR1A gene, characterized by endocrine tumors, cardiac and cutaneous myxomas, pigmented lesions, and testicular tumors. One to two thirds of affected males develop large cell calcifying Sertoli cell tumors (LCCSCTs), with rare involvement of scrotal soft tissues. We present a case of CNC in an adolescent male with bilateral LCCSCTs and a very large scrotal myxoma, resulting in azoospermia and pain requiring surgical management. This report highlights the urologic manifestations of CNC and outlines appropriate evaluation, treatment, and surveillance strategies relevant to pediatric and adolescent urologic practice.

#3

Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.

Journal of clinical research in pediatric endocrinology2026 Jan 05

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplasms, primarily driven by mutations in the PRKAR1A gene. This study explores the clinical heterogeneity in CNC patients, with a focus on adrenal and extra adrenal involvement and its impact on patient outcomes. We present three pediatric cases with unique clinical manifestations. Case 1: A 12-year-old female with ACTH-independent cyclic Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). The patient's condition progressed, leading to complications such as obesity, depression, and short stature, ultimately requiring bilateral adrenalectomy. Case 2: A 9-year-old male presented with an intranasal osteochondromyxoma and a large cell calcifying sertoli cell tumor. In the followup he developed hypocortisolism secondary to ACTH deficiency, with further complications including central precocious puberty and a growth hormone-secreting pituitary adenoma. Case 3: A 12-year-old female with adrenal insufficiency due to ACTH deficiency, complicated by a pituitary adenoma and a recurrent cardiac myxoma. Over time, the patient developed ACTH-independent Cushing syndrome secondary to PPNAD, necessitating bilateral adrenalectomy. Multiple fusiform aneurysms were also discovered after the recurrence of atrial myxoma. All cases highlight the absence of a consistent genotype-phenotype correlation in CNC, emphasizing the need for individualized management strategies. The findings underscore the complexity of diagnosing and treating CNC, particularly in pediatric populations, and call for further research into the underlying molecular mechanisms to develop more targeted therapies.

#4

ST-Segment Elevation Myocardial Infarction From Carney Complex Familial Myxoma Embolization.

JACC. Case reports2026 Jan 14

Carney complex (CNC) is a rare condition associated with multiorgan system tumors. Cardiac myxomas are a frequent complication of this disease. A 20-year old man with CNC presented with 3 days of dyspnea. Echocardiography revealed a rapidly growing left atrial myxoma. He developed chest pain (score: 10/10) during his hospitalization and was found to have an acute inferior ST-segment elevation myocardial infarction (STEMI). Emergent percutaneous balloon angioplasty and aspiration thrombectomy were performed, with eventual surgical myxoma excision. STEMI due to myxoma embolization is rare and poorly understood. This case highlights the pathophysiology and complications associated with CNC, the acute therapeutic interventions for STEMI from myxoma embolization, and the long-term management of atrial myxomas. In young patients with CNC, STEMI is often embolic from cardiac myxomas; acute treatment typically involves percutaneous coronary intervention with thrombectomy rather than stent placement. Definitive treatment involves surgical excision of the myxoma using a multidisciplinary approach, although recurrence rates are high in CNC.

#5

Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.

International journal of dermatology2026 Mar

Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development. Alongside endocrine neoplasms, these syndromes present with diverse cutaneous manifestations, offering valuable diagnostic clues for early recognition and management. This systematic review and meta-analysis aimed to evaluate and synthesize the dermatologic features associated with these syndromes. Following PRISMA 2020 guidelines, a systematic search of MEDLINE, Cochrane Library, and Embase databases was conducted. Eligible publications included original articles, case reports, and case series with detailed dermatological descriptions of patients with the aforementioned syndromes. Data extraction and risk of bias assessment were performed independently by multiple reviewers. Statistical analyses and data visualization were conducted using program package R. A total of 217 studies comprising 833 patients were included: 276 MEN1, 48 MEN2A, 9 MEN2B, 121 CNC, and 452 PHTS cases. Distinct dermatologic patterns emerged within each syndrome: angiofibromas, collagenomas, and lipomas in MEN1; cutaneous lichen amyloidosis in MEN2A; mucosal neuromas in MEN2B; lentiginosis and cutaneous myxomas in CNC; and trichilemmomas, papillomatous papules, and acral keratoses in PHTS. Melanoma prevalence was 2.2% in PHTS and 2.5% in MEN1 patients, underscoring the need for dermatologic vigilance. This review highlights the role of dermatologic assessment in identifying endocrine tumor syndromes, with cutaneous findings often serving as early, accessible markers of systemic disease. Enhanced awareness of these manifestations can facilitate timely genetic evaluation, cancer surveillance, and multidisciplinary intervention. Trial Registration: PROSPERO registration number: CRD42024558093.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC418 artigos no totalmostrando 200

2026

cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.

Frontiers in endocrinology
2026

A urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.

Urology case reports
2026

Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.

Journal of clinical research in pediatric endocrinology
2025

Orbitoconjunctival Myxoma: A Case Report and a Brief Literature Review.

International medical case reports journal
2025

Familial hereditary cardiac myxoma: report of three cases and literature review.

BMC cardiovascular disorders
2025

PRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease.

European journal of endocrinology
2025

From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.

Pituitary
2026

ST-Segment Elevation Myocardial Infarction From Carney Complex Familial Myxoma Embolization.

JACC. Case reports
2025

Sinonasal Tract Osteochondromyxoma: Future Directions Beyond Morphologic Description.

Head and neck pathology
2025

Large Right Atrial Myxoma With Endocrine Abnormalities as a Possible Case of a Syndromic Disease: A Case Report.

Clinical case reports
2025

Perioperative Care of a Patient With Carney Complex.

Cardiology research
2026

Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.

International journal of dermatology
2025

Right Atrial Myxoma in a Young Patient with a DSG-2 Genetic Mutation: A Case Report.

Case reports in oncology
2025

Carney Complex During Six-Year Follow-Up and Its Association With Attention-Deficit Hyperactivity Disorder: A Case Report.

Cureus
2025

Sinonasal Tract Osteochondromyxoma: An Underrecognized Tumor Easily Mistaken for Nasal Chondromesenchymal Hamartoma.

Head and neck pathology
2024

A RARE CAUSE OF CUSHING'S SYNDROME: BILATERAL PRIMARY PIGMENTED MICRONODULAR ADRENAL DISEASE.

Acta endocrinologica (Bucharest, Romania : 2005)
2025

Case Report: The carney complex led to the tragic passing of a young girl in the prime of her life.

Frontiers in cardiovascular medicine
2025

Familial Carney complex with embolic ischemic stroke: a case report and literature review.

Frontiers in oncology
2025

Keeping Up With Carney Complex: A Case of Recurrent Cardiac Myxomas.

JACC. Case reports
2025

Cushing's syndrome due to Carney complex in two siblings.

BMJ case reports
2026

Cyclic Cushing syndrome and endocrine disorders in two children with Carney complex.

Archivos argentinos de pediatria
2025

A Case of Carney Complex with Pontine Glioma.

Journal of clinical research in pediatric endocrinology
2025

A Case of Myxoid Malignant Peripheral Nerve Sheath Tumor in a Patient With Carney Complex.

Case reports in pathology
2025

Recurrent Atrial Myxoma in a Patient With Carney Complex 26 Years After Heart Transplantation.

JACC. Case reports
2025

Isolated Myxoma of the External Auditory Canal: A Rare Case Report.

Journal of audiology &amp; otology
2025

The Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.

Advances in anatomic pathology
2025

Uncharted Territory: The First Case of Cardiac Myxoma in a Patient With NF2.

JACC. Case reports
2025

Cardiac Complications in Carney Complex: Right Ventricular Outflow Tract Obstruction and Pulmonary Hypertension.

CASE (Philadelphia, Pa.)
2025

Unilateral Adrenalectomy for Pediatric Cyclical Cushing Syndrome with Novel PRKAR1A Variant Associated Carney Complex.

JCEM case reports
2025

Recurrent Cardiac Myxoma: Insights From a Fourth Recurrence.

JACC. Case reports
2025

Case Report: Cardiac myxomas and Carney complex: a case of recurrent embolic strokes and intracranial tumor growth.

Frontiers in oncology
2025

Superficial angiomyxoma affecting the buccal mucosa: A detailed immunohistochemical study and literature review.

Oral oncology
2025

Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.

Clinical cancer research : an official journal of the American Association for Cancer Research
2025

Sporadic Coexistence of Parathyroid Adenoma, Papillary Thyroid Carcinoma, Pheochromocytoma, and Cardiac Myxoma: A Multidisciplinary Approach to an Extremely Rare Tumor Constellation.

Cureus
2025

Right Ventricle Myxoma Masquerading as a Thrombus in a Pediatric Patient.

JACC. Case reports
2025

Child With Painful Purpuric Rash of the Hands and Feet.

Pediatric dermatology
2025

Carney complex: A rare diagnosis at hand.

Journal of pediatric nursing
2025

Subtle Symptoms of Large Biatrial Myxomas: A Case Study and Surgical Insights.

The American journal of case reports
2025

Oncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives.

Acta cytologica
2025

Nonmalignant Adrenocorticotrophic Hormone-Independent Cushing's Syndrome in Pediatric Patients: A Retrospective Observational Cohort Study.

Hormone research in paediatrics
2025

Cardiac myxoma: a comprehensive review.

Journal of cardiothoracic surgery
2025

A Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease.

JCEM case reports
2025

Hybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature.

Journal of medical case reports
2025

Detection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases.

Virchows Archiv : an international journal of pathology
2025

A Case of Recurrent Eyelid Cutaneous Myxoma With Basaloid Proliferation in a Child.

The American Journal of dermatopathology
2024

Synchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.

European journal of endocrinology
2024

[Superficial angiomyxoma in the scrotum].

Medicina
2024

Right Atrial Myxoma Removal Followed by COVID-19 Infection and Possibly Related Late Pericardial Effusion in a 31-Year-Old Male.

Cureus
2025

The "Pigmented Side" of Nerve Sheaths: Malignant Melanotic Nerve Sheath Tumor.

International journal of surgical pathology
2024

Carney complex was diagnosed following the recurrence of cardiac myxoma: A case report.

Asian journal of surgery
2024

Total resection via right mini-thoracotomy for left atrial myxoma in juvenile Carney complex: a case report.

General thoracic and cardiovascular surgery cases
2024

Male Infertility associated with a Novel PRKAR1A Mutation in Carney Complex.

Clinical medicine insights. Endocrinology and diabetes
2024

The molecular genetics of adrenal cushing.

Hormones (Athens, Greece)
2024

Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.

JCEM case reports
2025

Cushing syndrome in paediatric population: who and how to screen.

Journal of endocrinological investigation
2025

Recurrent left ventricular myxoma with Carney complex.

Acta cardiologica
2024

Solitary Superficial Angiomyxoma in an Uncommon Location: A Case Report and Literature Review.

Cureus
2024

Germline mutations in a G protein identify signaling cross-talk in T cells.

Science (New York, N.Y.)
2024

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex.

Endocrine
2024

Surgical recurrence of cardiac myxomas in patients with the Carney complex condition: A literature review.

Asian journal of surgery
2025

Myxoma: An Unusual Aggressive Orbital Lesion.

Ophthalmic plastic and reconstructive surgery
2024

Cardiac Myxomas in Carney Complex: Single Institution Multidecade Experience.

The Annals of thoracic surgery
2024

Nasal Osteochondromyxoma Without Carney Complex: A Case Report and a Literature Review.

Cureus
2024

[Superficial angiomyxoma on the sole of the foot].

Dermatologie (Heidelberg, Germany)
2025

Adrenal Cushing Syndrome: Diagnosis and Management in a 10-Year-Old Boy with Carney Complex.

Hormone research in paediatrics
2023

[Molecular genetic abnormalities in ACTH-secreting pituitary tumors (corticotropinomas): fundamental research and prospects for use in clinical practice].

Problemy endokrinologii
2024

Right atrial cardiac myxoma with malignant transformation to undifferentiated sarcoma: A case report.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2024

Novel PRKAR1A mutation in Carney complex: a case report and literature review.

Frontiers in endocrinology
2024

Squamous Metaplasia in a Schwannoma: A Unique Histologic Finding.

Cureus
2024

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Frontiers in endocrinology
2024

Right ventricular myxoma and pulmonary embolism in an adolescent with Carney complex.

JTCVS techniques
2024

Bilateral Adrenocortical Nodular Disease and Cushing's Syndrome.

The Journal of clinical endocrinology and metabolism
2024

Diagnosis and cardiac transplantation of a Carney syndrome-induced cardiac myxoma combined with dilated cardiomyopathy: a case report.

BMC cardiovascular disorders
2024

Carney complex: a case report of bilateral breast myxoid fibroadenomas.

Case reports in plastic surgery &amp; hand surgery
2024

Recurrent, polycystic myxoma in a Carney complex patient undergoing medical control of acromegaly.

The international journal of cardiovascular imaging
2025

The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.

The Journal of clinical endocrinology and metabolism
2024

Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review.

Virchows Archiv : an international journal of pathology
2024

Pulmonary embolism from right ventricular myxoma in a child with undiagnosed Carney complex.

Cardiology in the young
2024

Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2024

Sudden Death in a Child With Ocular Lesions.

JAMA ophthalmology
2024

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.

JCI insight
2024

Carney Complex with Left Atrial Myxoma - A Vasculitis Mimicker.

Acta Cardiologica Sinica
2024

Carney complex predisposes to breast cancer: prospective study of 50 women.

European journal of endocrinology
2023

Superficial Angiomyxoma in an Uncommon Area: A Case Report.

Cureus
2024

Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors.

Human pathology
2023

Recurrent Biatrial Myxomas in Carney Complex with a Spinal Melanotic Schwannoma: Advocacy for a Rigorous Multidisciplinary Follow-Up.

Case reports in cardiology
2023

The benign nature and rare occurrence of cardiac myxoma as a possible consequence of the limited cardiac proliferative/ regenerative potential: a systematic review.

BMC cancer
2023

Bilateral large cell calcifying Sertoli cell tumours: A testicular preservation approach in a young male.

Urology case reports
2026

Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families.

Journal of clinical research in pediatric endocrinology
2023

Carney Complex and Its Association With Thyroid Cancer, Molecular Pathway, and Treatment.

Cureus
2023

Superficial Angiomyxoma of Axilla: A Case Report.

Cureus
2024

Carney complex: A clinicopathologic study on a single family from several Canadian provinces.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2023

Osteochodromyxoma presenting as case of congenital nasolacrimal duct obstruction.

American journal of ophthalmology case reports
2023

Genetic Testing in Hereditary Pituitary Tumors.

Archives of medical research
2023

Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review.

Archives of endocrinology and metabolism
2024

Pigmented epithelioid melanocytoma arising from a teratoma of a Carney complex patient.

The journal of obstetrics and gynaecology research
2024

Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates.

AJNR. American journal of neuroradiology
2024

Surgical management of malignant melanotic nerve sheath tumors: an institutional experience and systematic review of the literature.

Journal of neurosurgery. Spine
2023

[Schwannoma, Neurofibromatosis Type 2, and Schwannomatosis in the 2021 WHO Classification of Tumors of the Central Nervous System].

No shinkei geka. Neurological surgery
2024

Cardiac myxomas: causes, presentations, diagnosis, and management.

Irish journal of medical science
2023

Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.

Scientific reports
2023

A rare case of cutaneous myxoma with trichofolliculoma-like features.

Journal of cutaneous pathology
2023

Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.

Advances in experimental medicine and biology
2023

[Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma].

Problemy endokrinologii
2023

Multiple cardiac myxomas and cutaneous pigmentation revealing carney complex.

Journal of clinical ultrasound : JCU
2022

Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.

Free neuropathology
2023

Case Report: Atrial myxoma combined with hyperthyroidism in an adolescent with literature review.

Frontiers in oncology
2023

Fourth Recurrence of Cardiac Myxoma in a Patient with Carney Complex.

Anatolian journal of cardiology
2023

Cardiac myxoma in a teenager with Carney complex.

Pediatric blood &amp; cancer
2023

Pituitary Tumorigenesis-Implications for Management.

Medicina (Kaunas, Lithuania)
2023

Case of Bilateral Atrial Myxomas in Carney Syndrome.

Journal of the Saudi Heart Association
2023

Laparoscopic right adrenalectomy in a patient with Carney syndrome: A case report.

International journal of surgery case reports
2023

Large cell calcifying Sertoli cell tumour: molecular and immunohistochemical assessment of a series comprising non-metastasising and metastasising neoplasms.

Histopathology
2023

Superficial angiomyxoma of the breast in a 25-year-old woman without Carney complex.

Asian journal of surgery
2023

Atrial myxoma and associated Cushing syndrome: Carney complex.

Medicina
2023

A case report and literature review of Carney complex with atrial adenomyxoma.

BMC endocrine disorders
2023

An adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Angiomyxoma of the Breast: A Clinicopathologic Analysis of 40 Cases.

The American journal of surgical pathology
2023

Recurrent multi-cameral cardiac myxomas in a child with Carney complex.

Cardiology in the young
2022

A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex.

The American journal of case reports
2022

Carney complex presenting as subclinical Cushing syndrome in a child due to a novel Phosphodiesterase 11A mutation.

Heliyon
2023

Surgical Outcomes of Cardiac Myxoma Resection Through Right Mini-Thoracotomy.

Journal of chest surgery
2022

Key changes in WHO classification 2022 of testicular tumors.

Ceskoslovenska patologie
2022

Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation.

Anticancer research
2023

The Spectrum of Familial Pituitary Neuroendocrine Tumors.

Endocrine pathology
2023

Bilateral tympanic myxoma: A CARE case report.

European annals of otorhinolaryngology, head and neck diseases
2022

The cAMP-signaling cancers: Clinically-divergent disorders with a common central pathway.

Frontiers in endocrinology
2022

Abnormal Fibroblasts Drive Pigmentary Skin Lesions in a Mouse Model of Carney Complex.

The Journal of investigative dermatology
2023

Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature.

Endocrine
2022

New Onset Cardiac Murmur and Exertional Dyspnea in an Apparently Healthy Child: A Rare Localization of Obstructive Myxoma in the Right Ventricle Outflow Tract without Pulmonary Embolization-A Case Report and Literature Review.

International journal of environmental research and public health
2022

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.

Frontiers in endocrinology
2022

A Novel Missense PRKAR1A Variant Causes Carney Complex.

Endocrinology and metabolism (Seoul, Korea)
2022

Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2022

Trigeminal Nerve Melanotic Schwannoma in Carney Complex.

The Indian journal of radiology &amp; imaging
2022

Cardiac myxoma presenting with multisystem involvement.

Saudi medical journal
2022

Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma.

Frontiers in genetics
2022

Unilateral or bilateral adrenalectomy in PPNAD: six cases from a single family followed up over 40 years.

Endocrine
2022

Conjunctival myxoma masquerading as conjunctival lymphoma: A case report.

International journal of surgery case reports
2022

Carney complex with multiple breast tumours including breast cancer: a case report.

Oxford medical case reports
2022

Phenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A.

The Tohoku journal of experimental medicine
2022

Spotty skin pigmentation in Carney complex.

Cleveland Clinic journal of medicine
2022

Genetic Alterations in Benign Adrenal Tumors.

Biomedicines
2023

Gastrointestinal: Melanotic schwannoma of the pancreas associated with Carney complex: A cause of acute neoplastic symptom.

Journal of gastroenterology and hepatology
2022

Cardiac myxomas: A narrative review.

World journal of cardiology
2022

Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome.

The Journal of investigative dermatology
2022

Molecular genetic testing in the management of pituitary disease.

Clinical endocrinology
2022

A review of multiomics platforms in pituitary adenoma pathogenesis.

Frontiers in bioscience (Landmark edition)
2022

Conjunctival myxoid stromal tumor of the palpebral conjunctiva: A case report.

American journal of ophthalmology case reports
2022

A Case Presentation Based on Incidental Diagnosis of Atrial Myxoma in a Patient Presenting With Atrial Fibrillation and Suspected Carney Complex.

Cureus
2022

Thorahcic SMARCA4-deficient undifferentiated tumors with ganglioneuroma and enchondroma: implications for SLC7A11 and ARID1A expression: a case report.

Diagnostic pathology
2022

A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.

Molecular genetics &amp; genomic medicine
2021

Case Report: Two Myxomas of Different Echodensities on Transthoracic Echocardiography in One Patient.

Frontiers in cardiovascular medicine
2022

Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy.

Internal medicine (Tokyo, Japan)
2022

Novel CD63-PRKCB fusion in a case of pigmented epithelioid melanocytoma.

Pediatric dermatology
2022

A clinicopathologic analysis of 54 cases of cutaneous myxoma.

Human pathology
2022

Large Cell Calcifying Sertoli Cell Tumor: A Clinicopathologic Study of 18 Cases With Comprehensive Review of the Literature and Reappraisal of Prognostic Features.

The American journal of surgical pathology
2022

Superficial Angiomyxomas Frequently Demonstrate Loss of Protein Kinase A Regulatory Subunit 1 Alpha Expression: Immunohistochemical Analysis of 29 Cases and Cutaneous Myxoid Neoplasms With Histopathologic Overlap.

The American journal of surgical pathology
2021

Bloody nipple discharge in Carney complex: A case report.

The breast journal
2021

Protein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex.

The Journal of clinical investigation
2022

Large cell calcifying Sertoli cell tumour: a contemporary multi-institutional case series highlighting the diagnostic utility of PRKAR1A immunohistochemistry.

Histopathology
2021

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart.

Pediatric dermatology
2021

Case Report: An Atypical Case of Carney Complex.

The American journal of case reports
2021

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment.

Biomedicines
2021

[Carney complex characterized by jugular foramen myxoma: a case report].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2021

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.

Pharmacological reviews
2021

Peutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).

Experimental and therapeutic medicine
2022

Diagnosis of Carney complex following multiple recurrent cardiac myxomas.

General thoracic and cardiovascular surgery
2021

Dermatological and endocrine elements in Carney complex (Review).

Experimental and therapeutic medicine
2022

A novel PRKAR1A gene mutation in Carney complex.

Clinical and experimental dermatology
2022

Sporadic superficial angiomyxomas demonstrate loss of PRKAR1A expression.

Histopathology
2021

Ultrasonographic features of cutaneous myxomas in a patient with Carney complex.

Anais brasileiros de dermatologia
2022

Conjunctival myxoma: A systematic review of a rare tumor.

Survey of ophthalmology
2021

Multimodality Cardiac Imaging Enhances Diagnosis and Management of Recurrent Atrial Myxomas in Carney Complex.

CASE (Philadelphia, Pa.)
2021

PRKAR1A and Thyroid Tumors.

Cancers
2021

L3 rootlet recurrent melanocytic schwannoma - case report and literature review.

Folia medica
2021

Carney complex: left atrial myxoma in a patient with past pituitary microadenoma and lentiginosis.

BMJ case reports
2021

Incidentally discovered myelolipomatous adrenal adenomas, including six cases presenting with hypercortisolism.

Pathology, research and practice
2021

Imaging features of Carney complex with external auditory canal myxoma.

Japanese journal of clinical oncology
2021

Loss of PKA regulatory subunit 1α aggravates cardiomyocyte necrosis and myocardial ischemia/reperfusion injury.

The Journal of biological chemistry
2021

A most versatile kinase: The catalytic subunit of PKA in T-cell biology.

International review of cell and molecular biology
2021

Checkpoint inhibitors and radiotherapy in refractory malignant melanocytic schwannoma with Carney complex: first evidence of efficacy.

BMJ case reports
2022

Vulvar Cutaneous Myxoma in a Patient With Carney Complex: Avoiding Pitfalls of Myxoid Lesions of the Vulva.

International journal of surgical pathology
2021

Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations.

Proceedings of the National Academy of Sciences of the United States of America
2021

Hemorrhagic spinal melanotic schwannoma presenting as acute chest pain: A case report and literature review.

Surgical neurology international
2021

A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma.

Archives of endocrinology and metabolism
2021

Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene.

BMJ case reports
2021

Genetics of Acromegaly and Gigantism.

Journal of clinical medicine
2021

Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Frontiers in endocrinology
2021

Multiple cardiac myxomas and acromegaly revealing carney complex.

European heart journal. Cardiovascular Imaging
2021

Schwannoma with Psammoma Body.

Journal of the American Podiatric Medical Association
2021

Psammomatous melanotic schwannoma - a rare neck lump.

Annals of the Royal College of Surgeons of England
2021

[Cancer-associated genodermatoses].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2021

First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome.

Journal of the Endocrine Society
2020

Genetic and Epigenetic Causes of Pituitary Adenomas.

Frontiers in endocrinology
2021

The clinical aspects of pituitary tumour genetics.

Endocrine
2021

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Endocrine pathology
2020

Recurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex.

ARYA atherosclerosis
2021

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.

European journal of endocrinology
2021

Carney triad: A case report, characteristics and literature review of this rare entity.

International journal of surgery case reports
2021

Newborn infant with congenital lentigines as a manifestation of Carney Complex.

BMJ case reports
Ver todos os 418 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
    Frontiers in endocrinology· 2026· PMID 41816209mais citado
  2. A urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.
    Urology case reports· 2026· PMID 41768348mais citado
  3. Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.
    Journal of clinical research in pediatric endocrinology· 2026· PMID 41486943mais citado
  4. ST-Segment Elevation Myocardial Infarction From Carney Complex Familial Myxoma Embolization.
    JACC. Case reports· 2026· PMID 41258844mais citado
  5. Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
    International journal of dermatology· 2026· PMID 41165034mais citado
  6. Case Report: Hyperthyroidism in a patient with spotty skin pigmentation and atrial myxoma (Carney complex): coincidence, association or cause?
    Front Cardiovasc Med· 2026· PMID 41982221recente
  7. Fibrous dysplasia in a patient with Carney complex.
    Hormones (Athens)· 2026· PMID 41926071recente
  8. Acromegaly and genetics.
    Vitam Horm· 2026· PMID 41912295recente
  9. Skin lesions in patients treated with growth hormone and those with growth hormone excess: a current overview.
    Front Med (Lausanne)· 2026· PMID 41907289recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1359(Orphanet)
  2. MONDO:0015285(MONDO)
  3. GARD:1119(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q1044007(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Complexo de Carney
Compêndio · Raras BR

Complexo de Carney

ORPHA:1359 · MONDO:0015285
Prevalência
<1 / 1 000 000
Casos
750 casos conhecidos
Herança
Autosomal dominant
CID-10
D44.8 · Neoplasia de comportamento incerto ou desconhecido com comprometimento pluriglandular
CID-11
Ensaios
2 ativos
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0406810
EuropePMC
Wikidata
Papers 10a
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