Raras
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Síndrome do complexo de Carney-trismus-pseudocamptodactilia
ORPHA:319340CID-10 · Q68.8CID-11 · 5A70.YOMIM 608837DOENÇA RARA

A síndrome do complexo de Carney-trismo-pseudocamptodactilia é uma síndrome genética rara do coração-mão caracterizada por manifestações típicas do complexo de Carney (pigmentação manchada da pele, mixomas cardíacos e cutâneos familiares e endocrinopatia) associada a trismo e artrogripose distal (apresentando-se como contração involuntária das articulações interfalângicas distais e proximais das mãos, evidente apenas na dorsiflexão do punho e contraturas semelhantes dos membros inferiores, produzindo deformidades nos pés).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome do complexo de Carney-trismo-pseudocamptodactilia é uma síndrome genética rara do coração-mão caracterizada por manifestações típicas do complexo de Carney (pigmentação manchada da pele, mixomas cardíacos e cutâneos familiares e endocrinopatia) associada a trismo e artrogripose distal (apresentando-se como contração involuntária das articulações interfalângicas distais e proximais das mãos, evidente apenas na dorsiflexão do punho e contraturas semelhantes dos membros inferiores, produzindo deformidades nos pés).

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
3
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q68.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

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Preparando trilha educativa...

Sinais e sintomas

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

Características mais comuns

Trismo
Artrogripose distal
Mixoma cardíaco
Herança autossômica dominante
4sintomas
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 4 características clínicas mais associadas, ordenadas por frequência.

TrismoTrismus
Artrogripose distalDistal arthrogryposis
Mixoma cardíacoCardiac myxoma
Herança autossômica dominanteAutosomal dominant inheritance

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202452 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano 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

1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.

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

Variantes genéticas (ClinVar)

41 variantes patogênicas registradas no ClinVar.

🧬 MYH8: NM_002472.3(MYH8):c.500del (p.Phe167fs) ()
🧬 MYH8: NM_002472.3(MYH8):c.4082A>G (p.Gln1361Arg) ()
🧬 MYH8: NM_002472.3(MYH8):c.370T>C (p.Phe124Leu) ()
🧬 MYH8: NM_002472.3(MYH8):c.2618G>C (p.Arg873Pro) ()
🧬 MYH8: NM_002472.3(MYH8):c.2242C>T (p.Leu748Phe) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 12 variantes classificadas pelo ClinVar.

3
5
4
Patogênica (25.0%)
VUS (41.7%)
Benigna (33.3%)
VARIANTES MAIS SIGNIFICATIVAS
MYHAS: NM_002472.3(MYH8):c.3320del (p.Leu1107fs) [Conflicting classifications of pathogenicity]
LOC126862494: NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys) [Conflicting classifications of pathogenicity]
MYH8: NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) [Pathogenic]
MYH8: NM_002472.3(MYH8):c.4094C>G (p.Ser1365Cys) [Uncertain significance]
MYH8: NM_002472.3(MYH8):c.1640C>T (p.Thr547Met) [Uncertain significance]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome do complexo de Carney-trismus-pseudocamptodactilia

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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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Extracellular vesicles from mesenchymal stromal cells primed with synthetic toll-like receptor 4 agonists treat hematopoietic acute radiation syndrome.

Stem cells translational medicine2026 Jan 09

Whole-body exposure to ionizing radiation can lead to cellular DNA damage to bone marrow (BM), causing lethal hematopoietic acute radiation syndrome (H-ARS). Extracellular vesicles (EVs) from human BM-derived mesenchymal stromal cells were primed with CRX-527 (CRX), a synthetic TLR4 agonist, characterized and tested as a radiomitigator therapy. Using a xenogeneic H-ARS mouse model, a single in vivo treatment with CRX-EVs administered 4 or 24 hours after lethal irradiation significantly improved weight loss, clinical scores and prolonged survival compared to control treatments. Ex vivo generation of CRX-EV educated monocytes (CRX-EEMos) were also effective in a H-ARS model when administered 24 hours after lethal irradiation. CRX-EVs or CRX-EEMos significantly promoted hematopoiesis in BM and potentially the spleen, leading to restoration of peripheral complete blood counts. CRX-EEMos showed increased gene expression of IL-6 and IL-10: enriched for PD-L1 but low for CD16 in CD14-expressing monocytes. Antisense inhibition of Let-7 microRNAs in CRX-EEMos suppressed IL-10 gene expression and protein secretion, implicating a novel role for Let-7 in radioprotection. CRX-EVs can effectively treat H-ARS by increasing the secretion of anti-inflammatory molecules while stimulating monocytes to promote hematopoiesis in BM. The potential for large-scale production of CRX-EVs as an "off-the-shelf" treatment for H-ARS makes them a potential medical countermeasure for radiological and nuclear threats.

#2

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.

#3

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.

#4

Endosome maturation is orchestrated by inside-out proton signaling through a Na+/H+ exchanger and pH-dependent Rab GTPase cycling.

Research square2026 Feb 04

Endosome maturation requires lumen acidification. Is progressive lumen acidification sensed by cytosolic-side molecules driving maturation? We show here that proton efflux through the endosomal Na+/H+ Exchanger (NHE6) activates the late endosome master regulator Rab7. Importantly, NHE6 is mutated in the childhood neurologic disorder Christianson Syndrome. We demonstrate that NHE6 interacts with the Rab7 GTPase-activating protein (GAP) TBC1D5 in a complex with Rab7 on the late endosome. This interaction and proton efflux are both required for Rab7 activation. TBC1D5 is potently inactivated with decreasing pH. A conserved histidine in the TBC1D5 GAP domain mediates pH-dependence. Furthermore, we show that neurons from mice engineered with a selective defect in NHE6 proton efflux exhibit blocked endosome maturation and disrupted Rab7 GTP-GDP cycling. In addition, knock-down of TBC1D5, thereby reducing Rab7 GAP activity, in NHE6 mutant neurons rescues Rab7 GTP-GDP cycling and endosome maturation. Finally, we present a biophysical model of proton signaling through acidic pH microdomains within the NHE6-TBC1D5-Rab7 protein complex upon endosome acidification. In conclusion, our studies provide evidence supporting a mechanism involving "inside-out" proton signaling, whereby lumen acidification drives endosome maturation through pH-dependent Rab GTPase cycling. Failure in this mechanism may have broad impact in neurodegenerative disease.

#5

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

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

Endosome maturation is orchestrated by inside-out proton signaling through a Na+/H+ exchanger and pH-dependent Rab GTPase cycling.

Research square
2026

Two in one: paraganglioma and gastrointestinal stromal tumor presentation of Carney-Stratakis syndrome.

Polish archives of internal medicine
2026

Extracellular vesicles from mesenchymal stromal cells primed with synthetic toll-like receptor 4 agonists treat hematopoietic acute radiation syndrome.

Stem cells translational medicine
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

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
2025

Phenotypic Carney-Stratakis syndrome with DIS3L2 variant: a case challenging the current genetic paradigm.

Proceedings (Baylor University. Medical Center)
2025

UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome.

Molecular autism
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

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

Cureus
2025

Discovery of Highly Potent Noncovalent Inhibitors of SARS-CoV-2 Main Protease through Computer-Aided Drug Design.

Journal of medicinal chemistry
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

FX ENTRAIN: scientific context, study design, and biomarker driven brain-computer interfaces in neurodevelopmental conditions.

Frontiers in neuroscience
2025

Precision Genomics: A Reality Having Universal Impact in a New Era of Psychiatry - Lessons Learned, Past and Present.

Journal of addiction psychiatry
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

Genetic suppression features ABHD18 as a Barth syndrome therapeutic target.

Nature
2025

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

Frontiers in oncology
2025

A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.

Molecular syndromology
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

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

JACC. Case reports
2025

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

Advances in anatomic pathology
2025

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.

Genome biology
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

A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions.

Molecular genetics and metabolism
2025

Multidisciplinary Approach to Familial Pulmonary Fibrosis.

Radiographics : a review publication of the Radiological Society of North America, Inc
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

Impact of Chilled Versus Room Temperature Saline on Procedure Time and Postoperative Outcomes Following Coblation Intracapsular Tonsillectomy and Adenoidectomy in Children With Sleep Disordered Breathing: A Randomised Control Trial.

ANZ journal of surgery
2025

SLC25A11, a Novel Gene Associated With Carney-Stratakis Syndrome.

Journal of the Endocrine Society
2025

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

Acta cytologica
2025

Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

Journal of child neurology
2025

Cardiovascular mortality increases with stage of cardiovascular-kidney-metabolic syndrome.

Nature reviews. Nephrology
2025

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

Hormone research in paediatrics
2025

Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.

International journal of molecular sciences
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
2025

In Silico Pharmacogenomic Assessment of Glucagon-like Peptide-1 (GLP1) Agonists and the Genetic Addiction Risk Score (GARS) Related Pathways: Implications for Suicidal Ideation and Substance Use Disorder.

Current neuropharmacology
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

Solving the Global Opioid Crisis: Incorporating Genetic Addiction Risk Assessment with Personalized Dopaminergic Homeostatic Therapy and Awareness Integration Therapy.

Journal of addiction psychiatry
2024

Pathologic diagnosis and molecular features of gastrointestinal stromal tumors: a mini-review.

Frontiers in oncology
2025

Antibiotic Treatment for 7 versus 14 Days in Patients with Bloodstream Infections.

The New England journal of medicine
2025

Conserved transcription factors coordinate synaptic gene expression through repression.

bioRxiv : the preprint server for biology
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

The First Pilot Epigenetic Type Improvement of Neuropsychiatric Symptoms in a Polymorphic Dopamine D2 (-DRD2/ANKK (Taq1A)), OPRM1 (A/G), DRD3 (C/T), and MAOA (4R) Compromised Preadolescence Male with Putative PANDAS/CANS: Positive Clinical Outcome with Precision-Guided DNA Testing and Pro-Dopamine Regulation (KB220) and Antibacterial Therapies.

Open journal of immunology
2024

Post-acute sequelae of SARS-CoV-2 cardiovascular symptoms are associated with trace-level cytokines that affect cardiomyocyte function.

Nature microbiology
2024

Gastrointestinal Stromal Tumors: Variants and Some Pitfalls That They Create.

Advances in anatomic pathology
2025

Gastrointestinal stromal tumours (GIST) in children: An update of this orphan disease.

Bulletin du cancer
2024

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

Clinical medicine insights. Endocrinology and diabetes
2024

Gastrointestinal stromal tumor in Carney's triad with laparoscopic total gastrectomy: a case report.

Surgical case reports
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
2024

Case Report: Primary Squamous Cell Carcinoma of the Orbit in a Patient With Carney's Syndrome Treated With Multidisciplinary Approaches.

Cancer reports (Hoboken, N.J.)
2024

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

Cureus
2024

Plasma-derived extracellular vesicles (EVs) as biomarkers of sepsis in burn patients via label-free Raman spectroscopy.

Journal of extracellular vesicles
2024

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

Science (New York, N.Y.)
2024

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Journal of medical genetics
2024

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

Endocrine
2025

Myxoma: An Unusual Aggressive Orbital Lesion.

Ophthalmic plastic and reconstructive surgery
2024

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.

Current issues in molecular biology
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

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

Frontiers in endocrinology
2024

Treating Depression to Improve Survival in Coronary Heart Disease: What Have We Learned?

Journal of the American College of Cardiology
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

Interlinked destinies: How ubiquitin-proteasome and autophagy systems underpin neurocognitive outcomes.

Experimental neurology
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

Atrial Myxoma: Presenting as a Large Splenic Infarction.

Cureus
2024

BONE Break: A Hot Debrief Tool to Reduce Second Victim Syndrome for Nurses.

Joint Commission journal on quality and patient safety
2024

Identification of stress-induced epigenetic methylation onto dopamine D2 gene and neurological and behavioral consequences.

Gene &amp; protein in disease
2024

Addressing cortex dysregulation in youth through brain health check coaching and prophylactic brain development.

INNOSC theranostics &amp; pharmacological sciences
2024

Knowledge domain and emerging trends in anxiety and depression after myocardial infarction research during 2002-2022: Bibliometric and visualized analysis.

Heliyon
2024

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

Case reports in plastic surgery &amp; hand surgery
2024

A giant left atrial myxoma transits across patent foramen ovale a PFO mimicking biatrial myxoma: a case report.

European heart journal. Case reports
2024

Unveiling the Chilaiditi Syndrome: A Case Report and Management Implications.

Cureus
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

Case report: detection of multiple sporadic gastrointestinal stromal tumors by dual-time 18 F-FDG PET/CT.

Frontiers in oncology
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

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

JCI insight
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
2023

Adrenal Cushing's syndrome in children.

Frontiers in endocrinology
2024

Genetics of Cardiac Tumours: A Narrative Review.

Heart, lung &amp; circulation
2024

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

Human pathology
2024

Disruption of circadian rhythms promotes alcohol use: a systematic review.

Alcohol and alcoholism (Oxford, Oxfordshire)
2023

Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report.

Journal of medical case reports
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
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

Three Cases of Carney-Stratakis Syndrome: A Genetically Heterogeneous Disease.

JCEM 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
2023

The MuSK-BMP pathway regulates synaptic Nav1.4 localization and muscle excitability.

bioRxiv : the preprint server for biology
2024

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

AJNR. American journal of neuroradiology
2023

Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors.

Science (New York, N.Y.)
2024

Sustained elimination of parenteral support in adult patients with under 60 cm of small intestine: A case series.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition
2024

wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis.

Developmental dynamics : an official publication of the American Association of Anatomists
2023

Paraneoplastic Hypercholesterolemia Identified in an Adult Male Diagnosed With Metastatic Yolk Sac Tumor.

Cureus
2023

Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.

Biology open
2023

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

No shinkei geka. Neurological surgery
2023

A multi-country analysis of COVID-19 hospitalizations by vaccination status.

Med (New York, N.Y.)
2024

Sleep apnea multi-level surgery trial: long-term observational outcomes.

Sleep
2023

Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors.

Endocrine-related cancer
2023

Multiple myeloma and its rare paraneoplastic manifestations simmering under the surface.

Pathology, research and practice
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

Futuristic Thinking about Engineering "Geneospirituality" to Help Prevent Relapse of Reward Deficiency Syndrome (RDS) Behaviors.

EC psychology and psychiatry
2023

Severe osteoporosis in a young man with bilateral Cushing's syndrome: a case report.

Journal of medical case reports
2023

Elsberg Syndrome with Mixed Presentation as Meningitis Retention Syndrome: A Pediatric Case Report and Comprehensive Review of the Literature.

Children (Basel, Switzerland)
2023

Pituitary Tumorigenesis-Implications for Management.

Medicina (Kaunas, Lithuania)
2023

Congenital melanocytic naevus syndrome and Dandy-Walker malformation - a mistaken association: case report and literature review.

Neuroradiology
2023

Recognition and epileptology of protracted CLN3 disease.

Epilepsia
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

Management of severe scoliosis in patients with Turner's syndrome: A case series.

Journal of orthopaedics
2023

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

Histopathology
2023

Utility of monocyte HLA-DR and rationale for therapeutic GM-CSF in sepsis immunoparalysis.

Frontiers in immunology
2023

Scoliosis and Kyphosis Prevalence in Turner Syndrome: A Retrospective Review at a Pediatric Tertiary Care Medical Center.

Journal of pediatric orthopedics
2023

Atrial myxoma and associated Cushing syndrome: Carney complex.

Medicina
2022

Blood transcriptome responses in patients correlate with severity of COVID-19 disease.

Frontiers in immunology
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
2022

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

European journal of endocrinology
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

Efficacy of empagliflozin for syndrome of inappropriate antidiuresis.

Nature reviews. Nephrology
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
2024

Splanchnic Nerve Block: An Emerging Treatment for Heart Failure.

Cardiology in review
2023

The Spectrum of Familial Pituitary Neuroendocrine Tumors.

Endocrine pathology
2022

Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review.

Frontiers in oncology
2022

17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.

Disease models &amp; mechanisms
2022

SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.

Children (Basel, Switzerland)
2023

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

Endocrine
2022

Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.

Annals of oncology : official journal of the European Society for Medical Oncology
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

Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.

Stem cell reports
2022

A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature.

Medicina (Kaunas, Lithuania)
2022

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

Endocrine
2023

Malignant Melanotic Nerve Sheath Tumors: A Review of Clinicopathologic and Molecular Characteristics.

Journal of microscopy and ultrastructure
2022

A Rare Case of Horseshoe Kidney With Multiple Atrial Myxomas Presenting as Cerebrovascular Accident.

Cureus
2022

Defining and Assessing the Syndrome of Moral Injury: Initial Findings of the Moral Injury Outcome Scale Consortium.

Frontiers in psychiatry
2022

Conjunctival myxoma masquerading as conjunctival lymphoma: A case report.

International journal of surgery case reports
2022

Malignant psammomatous melanotic schwannoma mimicking adrenal cyst: case report.

Annals of pediatric surgery
2023

Laparoscopic resection for recurrent gastrointestinal stromal tumors and paraganglioma in a patient with Carney-Stratakis syndrome: A case report.

Asian journal of endoscopic surgery
2022

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

Oxford medical case reports
2022

Comparison of Transcriptional Signatures of Three Staphylococcal Superantigenic Toxins in Human Melanocytes.

Biomedicines
2022

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

The Tohoku journal of experimental medicine
2022

Multiplex Detection of Antibody Landscapes to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)/Influenza/Common Human Coronaviruses Following Vaccination or Infection With SARS-CoV-2 and Influenza.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2022

Genetic Alterations in Benign Adrenal Tumors.

Biomedicines
2022

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

The Journal of investigative dermatology
2022

Acute phase protein response and changes in lipoprotein particle size in dogs with systemic inflammatory response syndrome.

Journal of veterinary internal medicine
2022

Molecular genetic testing in the management of pituitary disease.

Clinical endocrinology
2022

Circulating osteopontin mediates acute kidney injury-induced respiratory failure.

Nature reviews. Nephrology
2022

Innate lymphoid cells and COVID-19 severity in SARS-CoV-2 infection.

eLife
2022

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

American journal of ophthalmology case reports
2022

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.

American journal of medical genetics. Part A
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

SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.

Frontiers in oncology
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
2021

Development of a Manually Operated Communication System (MOCS) for patients in intensive care units.

Augmentative and alternative communication (Baltimore, Md. : 1985)
2021

Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.

Journal of central nervous system disease
2022

A review of fenfluramine for the treatment of Dravet syndrome patients.

Current research in pharmacology and drug discovery
2022

A clinicopathologic analysis of 54 cases of cutaneous myxoma.

Human pathology
2022

Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.

Brain : a journal of neurology
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

Validated biomarker assays confirm that ARID1A loss is confounded with MMR deficiency, CD8+ TIL infiltration, and provides no independent prognostic value in endometriosis-associated ovarian carcinomas.

The Journal of pathology
2021

Bloody nipple discharge in Carney complex: A case report.

The breast journal
2021

Superficial angiomyxoma of the breast in a 16-year-old girl without carney's 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
2021

Carney's triad in an adult male from a tertiary care center in India: a case report.

Journal of medical case reports
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

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

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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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. Extracellular vesicles from mesenchymal stromal cells primed with synthetic toll-like receptor 4 agonists treat hematopoietic acute radiation syndrome.
    Stem cells translational medicine· 2026· PMID 41510819mais citado
  2. cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
    Frontiers in endocrinology· 2026· PMID 41816209mais citado
  3. A urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.
    Urology case reports· 2026· PMID 41768348mais citado
  4. Endosome maturation is orchestrated by inside-out proton signaling through a Na+/H+ exchanger and pH-dependent Rab GTPase cycling.
    Research square· 2026· PMID 41674817mais citado
  5. 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
  6. Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors.
    Hum Pathol· 2024· PMID 38154678recente
  7. [Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma].
    Probl Endokrinol (Mosk)· 2023· PMID 37448268recente
  8. Pituitary Tumorigenesis-Implications for Management.
    Medicina (Kaunas)· 2023· PMID 37109772recente
  9. Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation.
    Anticancer Res· 2022· PMID 36456122recente
  10. The Spectrum of Familial Pituitary Neuroendocrine Tumors.
    Endocr Pathol· 2023· PMID 36401106recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:319340(Orphanet)
  2. OMIM OMIM:608837(OMIM)
  3. MONDO:0012137(MONDO)
  4. GARD:17448(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q105544026(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

Compêndio · Raras BR

Síndrome do complexo de Carney-trismus-pseudocamptodactilia

ORPHA:319340 · MONDO:0012137
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Not applicable
CID-10
Q68.8 · Outras deformidades osteomusculares congênitas
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1837245
Wikidata
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