Doença de armazenamento lisossômico de glicogênio caracterizada por cardiomiopatia grave e graus variáveis de fraqueza muscular, frequentemente associada a déficit intelectual.
Introdução
O que você precisa saber de cara
Doença de armazenamento lisossômico de glicogênio caracterizada por cardiomiopatia grave e graus variáveis de fraqueza muscular, frequentemente associada a déficit intelectual.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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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: X-linked dominant.
Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:37390818, PubMed:8662539). Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity (PubMed:37390818). Plays an important role in chaperone-media
Lysosome membraneEndosome membraneCell membraneCytoplasmic vesicle, autophagosome membrane
Danon disease
DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes.
Variantes genéticas (ClinVar)
398 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 656 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença Danon
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
Ensaios em destaque
🟢 Recrutando agora
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
7 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.
Danon disease (DD) is a rare, X-linked dominant autophagic vacuolar myopathy caused by deficiency of lysosomal-associated membrane protein 2 (LAMP2) and is characterized by cardiomyopathy, skeletal myopathy, and intellectual disability. However, the underlying mechanisms remain unclear. In this study, we report the generation of two induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells of patients with DD. These lines were validated for pluripotency markers expression, genomic integrity, vector clearance, and trilineage differentiation potential. Finally, these cell lines provide a good model to study pathological features of the disease and to evaluate potential therapeutic strategies for DD.
[A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].
患儿,男,3月龄,临床表现为肥厚型心肌病伴左心室流出道狭窄,心肌酶、肝酶异常,全外显子组测序LAMP2基因外显子4半合子嵌合变异c.467T>A(p.L156*),嵌合比例83%(167/201),为无义变异、新发致病性变异,确诊为Danon病,予口服普萘洛尔、辅酶Q10治疗。随访至8月龄,患儿生长发育正常,未出现心律失常、心力衰竭等并发症。.
Danon disease associated multiple manifestations of arrhythmias in a child.
Danon Disease Diagnosed by Multimodal Imaging.
Danon disease is a rare X-linked dominant disorder caused by loss-of-function mutations in lysosome-associated membrane protein-2 (LAMP2). We report an 18-year-old male patient in which multimodal imaging revealed left ventricular hypertrophy, reduced myocardial perfusion, electrocardiographic evidence of pre-excitation, abnormal serologic parameters, and histopathologic abnormalities. Genetic testing identified a variant in LAMP2, confirming the diagnosis of Danon disease. Testing of his mother and 3 children also revealed the LAMP2 variant. Patients with Danon disease primarily present with cardiac manifestations, including hypertrophic cardiomyopathy, arrhythmia, and heart failure. Young men exhibiting myocardial hypertrophy, elevated plasma creatine kinase, pre-excitation on electrocardiography, and/or characteristic late gadolinium enhancement on cardiac magnetic resonance should be evaluated for Danon disease. Multimodal imaging (echocardiography, cardiac magnetic resonance) combined with genetic testing is key to accurate diagnosis. Family screening and genetic counseling are crucial given the X-linked dominant-inheritance pattern.
Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.
Recent progress in unraveling the molecular mechanisms of infiltrative Cardiomyopathies (CMPs) has created exciting opportunities for targeted therapies. These conditions, which include cardiac amyloidosis, sarcoidosis, Danon disease, Fabry disease, Mucopolysaccharidoses (MPS), and cardiac oxalosis, significantly impair cardiac function through complex pathogenic mechanisms. In cardiac amyloidosis, the accumulation of misfolded proteins into fibrillary amyloids disrupts myocardial structure, leading to inflammation, oxidative stress, and apoptosis. New treatments such as Antisense Oligonucleotides [ASOs], small interfering RNA [siRNA], and monoclonal antibodies have shown promising results in preclinical and clinical settings for managing amyloid deposition. Gene editing technologies, particularly CRISPR-Cas9, also have significant potential to deliver lasting therapeutic benefits by precisely correcting pathogenic mutations. Furthermore, managing Fabry disease with Enzyme Replacement Therapies [ERT] and chaperone molecules has improved cardiac outcomes; however, challenges remain in advanced stages due to ongoing myocardial involvement. Immunomodulatory strategies and innovative antibody-based therapies targeting pathological protein aggregates represent groundbreaking approaches that have shown efficacy in preclinical and earlyphase clinical trials. Despite these advancements, challenges remain, including the efficiency of drug delivery, possible off-target effects, and inconsistent clinical responses among different patient groups. Future research should focus on improving these therapies to increase their specificity and safety, ultimately enhancing patient outcomes and quality of life in infiltrative cardiomyopathies.
Publicações recentes
Danon Disease: Clinical Manifestations, Pathophysiology, and Treatment.
Ophthalmic manifestations of Danon disease: A systematic review.
Danon Disease Diagnosed by Multimodal Imaging.
Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.
Danon disease presenting with transient stroke-like weakness in a young woman: a case report.
📚 EuropePMC251 artigos no totalmostrando 197
Danon Disease Diagnosed by Multimodal Imaging.
JACC. Case reportsAdvancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.
Current cardiology reviewsDanon disease presenting with transient stroke-like weakness in a young woman: a case report.
Frontiers in cardiovascular medicineGeneration and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.
Stem cell research[A 14-year management of an early-onset female Danon disease carrier: analysis of family clinical phenotype and transplant efficacy].
Zhonghua xin xue guan bing za zhi[A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].
Zhonghua er ke za zhi = Chinese journal of pediatricsRegression of massive left ventricular hypertrophy in Danon disease.
Acta cardiologicaOuter nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.
Acta ophthalmologicaDanon disease: Two case reports and literature review.
MedicineDanon disease without hypertrophy: a phenotypic paradox driven by a de novo LAMP2 mutation.
European heart journal. Case reportsGenetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation.
Journal of cardiovascular development and diseaseDanon disease presenting with atypical non-septal sparing LGE on cardiac MRI: a case report.
European heart journal. Case reportsMisdiagnosis of 99mTc-PYP-positive Danon disease as ATTR-CA: a case report and molecular imaging pitfalls.
BMC cardiovascular disordersDanon disease associated multiple manifestations of arrhythmias in a child.
European heart journalCurrent Achievements in Gene Therapy Strategies and Delivery Systems in Preclinical and Clinical Models of Heart Failure.
Current heart failure reportsCardiac MRI in Danon's Disease-A Phenocopy of Hypertrophic Cardiomyopathy in Young Adults.
Echocardiography (Mount Kisco, N.Y.)Bridge to heart transplantation with nearly 800-day intracorporeal biventricular assistance in a pediatric patient with Danon disease: a case report.
Journal of artificial organs : the official journal of the Japanese Society for Artificial OrgansEarly-onset severe cardiomyopathy in a Danon disease patient with a novel LAMP2 mutation.
Cardiology journalA novel LAMP2 initiation codon mutation causes Danon Disease: a case report.
Frontiers in cardiovascular medicineAtypical late gadolinium enhancement pattern in danon disease: a case report.
QJM : monthly journal of the Association of PhysiciansDanon disease in male patients: a prospective natural history study to augment understanding of the phenotype.
Orphanet journal of rare diseasesDanon disease: From genetic origins and molecular defects to therapeutic advances.
Disease-a-month : DMDrug-Refractory Peripartum Cardiomyopathy With Novel Loss-of-function Variants in LAMP2 and TTN.
Circulation. Heart failureForeword danon disease: From genetic origins and molecular defects to therapeutic advances.
Disease-a-month : DMDanon Disease Diagnosed by Multimodal Imaging: A Case Report.
Journal of clinical ultrasound : JCULAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.
Cardiology in the youngSex-Specific Cardiac Magnetic Resonance Phenotypes in Danon Disease: A Retrospective Cohort Study.
Journal of magnetic resonance imaging : JMRIA Fasciculoventricular Accessory Pathway Featuring Functional Decremental Conduction and QRS Variability.
Arrhythmia & electrophysiology reviewDanon disease mimicking myocarditis.
The international journal of cardiovascular imagingBroad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.
Diagnostics (Basel, Switzerland)Myocardial hypertrabeculation: a rare manifestation of Danon disease.
European heart journal. Cardiovascular ImagingA 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.
Case reports in medicineAn International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes.
Journal of the American Heart AssociationRat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.
Mammalian genome : official journal of the International Mammalian Genome SocietyGenetic Medicine for Danon Disease.
The New England journal of medicineHypertrophic cardiomyopathy: prevalence of disease-specific red flags.
European heart journalVEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cellular & molecular biology lettersUnveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies.
International journal of molecular sciencesPhase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.
The New England journal of medicineRandomized Study Comparing a Novel Intranasal Formulation of Bumetanide With Oral and Intravenous Formulations.
CirculationNEJM at AHA - Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.
The New England journal of medicineFocusing in on the Danon Disease Heart.
JACC. Case reportsDanon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype.
JACC. Case reportsHistory and Perspective of LAMP-2 Deficiency (Danon Disease).
BiomoleculesClinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.
The Canadian journal of cardiologyA novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.
Ophthalmic geneticsA tale of two phenotypes: transition from hypertrophic to dilated cardiomyopathy in Danon disease.
European heart journal. Case reportsAltered fatty acid distribution in lysosome-associated membrane protein-2 deficient mice.
Biochemistry and biophysics reportsDanon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) Gene.
Internal medicine (Tokyo, Japan)Frameshift mutation of LAMP2:c.667delT in a 17-year-old male with hypertrophic cardiomyopathy and dyslexia: a novel pathogenic variant for Danon disease.
Singapore medical journalCorrigendum: Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.
Frontiers in cardiovascular medicineEndovascular treatment in Danon disease: a case report.
Journal of medical case reportsEfficient measurement of multiple ventricular assist device patient-reported outcomes: Creation of a 20-item profile from the MCS A-QOL study.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationCase Report: Multiple types of arrhythmias in a late-confirmed Danon disease.
Frontiers in cardiovascular medicineA Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study.
Cell journalAltered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.
Medicina (Kaunas, Lithuania)A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.
Circulation journal : official journal of the Japanese Circulation SocietyA Deep Learning Pipeline for Assessing Ventricular Volumes from a Cardiac MRI Registry of Patients with Single Ventricle Physiology.
Radiology. Artificial intelligenceDanon disease manifesting as dilated cardiomyopathy in a 37-year-old woman.
European heart journal. Cardiovascular ImagingHypertrophic cardiomyopathy secondary to deficiency in lysosome-associated membrane protein-2: A case report.
World journal of cardiologyPaediatric hypertrophic cardiomyopathy secondary to Danon disease.
Cardiology in the youngApplications of Gene Therapy in Cardiomyopathies.
JACC. Heart failureMultimodal imaging in Danon disease.
Journal francais d'ophtalmologieCerebral Blood Flow, Brain Injury, and Aortic-Pulmonary Collateral Flow After the Fontan Operation.
The American journal of cardiologyInternational Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Journal of the American College of CardiologyHypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.
International journal of molecular sciencesDanon disease: Rare cause of cardiomyopathy.
Kardiologia polskaDanon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
GenesA Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.
Pharmacogenomics and personalized medicineMitochondria are secreted in extracellular vesicles when lysosomal function is impaired.
Nature communicationsEffect of pharmacological heart failure drugs and gene therapy on Danon's cardiomyopathy.
Biochemical pharmacologyClinical manifestations and MRI features of Danon disease: a case series.
BMC cardiovascular disordersA modified extended Morrow procedure to relieve symptoms of the patient with Danon disease: a case report.
European heart journal. Case reportsDropped Head Syndrome Secondary to Danon Disease: A Case Report.
CureusClinical features of pediatric Danon disease and the importance of early diagnosis.
International journal of cardiologyBeyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.
Neuropathology and applied neurobiologyIdentification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.
Molecular genetics & genomic medicineIdentification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.
ESC heart failureDanon disease in a Sardinian family: different aspects of the same mutation-a case report.
European heart journal. Case reportsCardiovascular magnetic resonance findings in Danon disease: a case series of a family.
Frontiers in cardiovascular medicineDanon Disease Presenting as Eosinophilic Myocarditis: Key Role of Endomyocardial Biopsy.
JACC. Case reportsNew deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
Folia medicaThe Small GTPase Rab7 Regulates Release of Mitochondria in Extracellular Vesicles in Response to Lysosomal Dysfunction.
bioRxiv : the preprint server for biologyMetabolic Maturation Exaggerates Abnormal Calcium Handling in a Lamp2 Knockout Human Pluripotent Stem Cell-Derived Cardiomyocyte Model of Danon Disease.
Biomolecules[Clinical characteristics of Danon disease].
Zhonghua xin xue guan bing za zhiMyocardial Tissue Characterization in Danon Disease.
RadiologyA rare and fatal cause of hypertrophic cardiomyopathy: Danon disease.
Cardiology in the youngGenetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments.
European heart journalDilated Cardiomyopathy and Systolic Heart Failure in a Female Patient With Danon Disease.
CureusDanon Cardiomyopathy: Specific Imaging Signs.
JACC. Case reportsDANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.
Retinal cases & brief reportsDe novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report.
Frontiers in cardiovascular medicineX-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.
Neurology IndiaAutophagy guided interventions to modify the cardiac phenotype of Danon disease.
Biochemical pharmacologyCase Report: Danon Disease: Six Family Members and Literature Review.
Frontiers in cardiovascular medicineRelationship Between Fragmented QRS Complex and Left Ventricular Fibrosis and Function in Patients With Danon Disease.
Frontiers in cardiovascular medicineCardiac MRI of Hereditary Cardiomyopathy.
Radiographics : a review publication of the Radiological Society of North America, IncFamilial Hypertrophic Cardiomyopathy With Fasciculoventricular Accessory Pathway.
JACC. Case reportsA Frequent Observation of Wolff-Parkinson-White Syndrome and Fasciculoventricular Pathways in Patients With Danon Disease.
Circulation journal : official journal of the Japanese Circulation SocietyFour-dimensional echocardiography and left ventricular systolic strain measured via two-dimensional speckle-tracking for Danon disease: a case series.
European heart journal. Case reportsCase Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease.
Frontiers in cardiovascular medicineMyocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies.
Journal of the American Heart AssociationCardiac Transplantation in Danon Disease.
Journal of cardiac failureClinical features of Danon disease and insights gained from LAMP-2 deficiency models.
Trends in cardiovascular medicineMild form of Danon disease: two case reports.
Neuromuscular disorders : NMDLAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart.
Journal of the American Heart AssociationScintigraphy false-positive results for cardiac amyloidosis in a patient with Danon disease.
Clinical case reportsApplication of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.
International journal of molecular sciencesDetection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series.
European heart journal. Case reportsEarly diagnosis of infantile Danon disease complicated by tetralogy of Fallot.
Pediatrics international : official journal of the Japan Pediatric SocietyUtility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies.
Current cardiology reportsDanon disease: a case report and literature review.
Diagnostic pathologyCardiac MRI in Danon Disease: Sex-specific Differences and Characteristic Imaging Findings.
RadiologyCardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series.
RadiologyFasciculoventricular and atrioventricular accessory pathways in patients with Danon disease and preexcitation: A multicenter experience.
Heart rhythmClinical and molecular characterization of seven patients with Danon disease.
Experimental and therapeutic medicineProgression of Danon disease with medical imaging: two case reports.
The Journal of international medical researchCase Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease.
Frontiers in geneticsA new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Orphanet journal of rare diseasesImpaired autophagy: The collateral damage of lysosomal storage disorders.
EBioMedicine[Pathological diagnosis of Danon disease by endomyocardial biopsy].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMolecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Clinical geneticsLong-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
GenesClinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.
Circulation. Genomic and precision medicineGeneration of induced pluripotent stem cells (NJDTHi001-A) from a Danon disease child with mutation of c.467 T > G in LAMP2 gene.
Stem cell researchA case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene.
MedicineCardiac Magnetic Resonance Imaging in Danon Disease Cardiomyopathy.
JACC. Cardiovascular imagingAn unusual case of severe myocarditis in a genetic cardiomyopathy: a case report.
European heart journal. Case reportsWolff Parkinson white pattern in Danon disease: When preexcitation is not what it seems.
Journal of electrocardiologyOuter Retinal Abnormalities in a Patient with Danon Disease.
Retinal cases & brief reportsDanon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes.
Journal of clinical medicineApical Sparing Strain Pattern in Danon Disease: Insights From a Global Registry.
JACC. Cardiovascular imagingDanon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
ESC heart failureThe multiple faces of Danon disease.
Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheoresePigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Acta ophthalmologicaClinical features and cardiovascular magnetic resonance characteristics in Danon disease.
Clinical radiologyClinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
BMC cardiovascular disordersSystemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.
Science translational medicineThrombotic microangiopathy following heart transplant in pediatric Danon disease.
Pediatric transplantationDanon Disease with Internal Carotid Artery Occlusion Showing Good Clinical Outcome Due to Robust Collaterals.
Annals of Indian Academy of NeurologyLysosomal Abnormalities in Cardiovascular Disease.
International journal of molecular sciencesDiagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyAlu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
American journal of medical genetics. Part AMultimodality Imaging of Danon Disease in a Patient with a Novel LAMP2 Mutation.
CASE (Philadelphia, Pa.)Review: Danon disease: Review of natural history and recent advances.
Neuropathology and applied neurobiologyLysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.
Biochemical and biophysical research communicationsThree female patients with Danon disease presenting with predominant cardiac phenotype: a case series.
European heart journal. Case reportsLeft ventricular assist device implantation in an adult male with Danon disease.
Journal of cardiology casesA novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.
Molecular genetics & genomic medicineDanon disease: Two patients with atrial fibrillation in a single family and review of the literature.
Experimental and therapeutic medicineA Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy.
CellsPerioperative management of patients with genetic multisystem diseases associated with pre‑excitation.
Anaesthesiology intensive therapyDanon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.
Ophthalmic geneticsArrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience.
Journal of cardiovascular electrophysiologyPhenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy.
Journal of molecular and cellular cardiologyRepeat Cardiac Transplant Indicated by Severe Cardiac Allograft Vasculopathy in a Patient With Danon Disease.
Reviews in cardiovascular medicineTwenty-five-year-old woman with palpitations and hypertrophic cardiomyopathy.
Heart AsiaHeart transplantation in Danon disease: Long term single centre experience and review of the literature.
European journal of medical geneticsPrevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.
Molecular genetics & genomic medicineDelayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.
Circulation. Genomic and precision medicineDanon disease: Gender differences in presentation and outcomes.
International journal of cardiologyRetinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium.
European journal of ophthalmologyA family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.
Molecular genetics & genomic medicineLysosomal storage disorders affecting the heart: a review.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyLAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion.
Proceedings of the National Academy of Sciences of the United States of AmericaHeart transplantation in two adolescents with Danon disease.
Pediatric transplantationAbundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene.
Revue neurologiqueCardiac Resynchronization Therapy-Pacemaker Implantation Guided by Three-Dimensional Electroanatomic Mapping for a Chinese Young Man with Danon Disease.
Chinese medical journalA Nationwide Survey on Danon Disease in Japan.
International journal of molecular sciencesFasciculoventricular Pathways Responsible for Ventricular Preexcitation in Patients With Danon Disease.
Circulation. Arrhythmia and electrophysiologyLAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
American journal of medical genetics. Part AClinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.
Revista espanola de cardiologia (English ed.)The Major Lysosomal Membrane Proteins LAMP-1 and LAMP-2 Participate in Differentiation of C2C12 Myoblasts.
Biological & pharmaceutical bulletinA new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.
European journal of medical geneticsCharacterisation of Lamp2-deficient rats for potential new animal model of Danon disease.
Scientific reportsA Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2 Gene.
CureusGenetic Infiltrative Cardiomyopathies.
Heart failure clinicsCommon presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction.
International journal of cardiologySmall-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.
Scientific reportsA rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy.
European heart journalCharacteristics of induced pluripotent stem cells from clinically divergent female monozygotic twins with Danon disease.
Journal of molecular and cellular cardiologyHeart transplantation in Danon disease: A single family displaying diverse phenotypes.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationTransient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function.
Case reports in pediatricsActivation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice.
Circulation. Heart failureCardiac Danon disease: Insights and challenges.
International journal of cardiologyMalignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
International journal of cardiologyHeterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management.
Molecular genetics and metabolismDanon disease for the cardiologist: case report and review of the literature.
Journal of community hospital internal medicine perspectivesPsychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).
American journal of medical genetics. Part ANeuropsychological functioning following cardiac transplant in Danon disease.
Developmental neurorehabilitationImpaired mitophagy facilitates mitochondrial damage in Danon disease.
Journal of molecular and cellular cardiologyHypertrophic Cardiomyopathy with Unusual Extensive Scarring Pattern: Danon Disease.
Methodist DeBakey cardiovascular journalHuman-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders.
Current cardiology reportsA Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.
Clinical reviews in allergy & immunologyAutophagy dysregulation in Danon disease.
Cell death & diseaseImplantation of a Left Ventricular Assist Device for Danon Cardiomyopathy.
The Annals of thoracic surgeryIschemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.
Neuromuscular disorders : NMDAssociações
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.
- [A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].
- Danon disease associated multiple manifestations of arrhythmias in a child.
- Danon Disease Diagnosed by Multimodal Imaging.
- Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.
- Danon Disease: Clinical Manifestations, Pathophysiology, and Treatment.
- Ophthalmic manifestations of Danon disease: A systematic review.
- Danon disease presenting with transient stroke-like weakness in a young woman: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:34587(Orphanet)
- OMIM OMIM:300257(OMIM)
- MONDO:0010281(MONDO)
- GARD:9730(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5220984(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
