Raras
Buscar doenças, sintomas, genes...
Doença Danon
ORPHA:34587CID-10 · E74.0CID-11 · 5C51.3OMIM 300257DOENÇA RARA

Doença de armazenamento lisossômico de glicogênio caracterizada por cardiomiopatia grave e graus variáveis ​​de fraqueza muscular, frequentemente associada a déficit intelectual.

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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.

Pesquisas ativas
4 ensaios
7 total registrados no ClinicalTrials.gov
Publicações científicas
341 artigos
Último publicado: 2026 Mar 31

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
84
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 20%
Triagem neonatal (Fase 1)CID-10: E74.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (7)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)enzyme_replacement
0202080013
Teste do pezinho (triagem neonatal)rehabilitation
0303050152
Infusão de alfaglicosidase (Pompe)
+1 outros procedimentos
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

❤️
Coração
11 sintomas
💪
Músculos
8 sintomas
🧠
Neurológico
3 sintomas
🦴
Ossos e articulações
1 sintomas
👁️
Olhos
1 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

100%prev.
Cardiomiopatia hipertrófica
Muito frequente (99-80%)
100%prev.
Cardiomiopatia dilatada
Muito frequente (99-80%)
100%prev.
Insuficiência cardíaca congestiva
Frequência: 2/2
100%prev.
Concentração elevada de creatina quinase circulante
Frequência: 2/2
100%prev.
Acúmulo de autofagossomos no músculo esquelético
Frequência: 10/10
100%prev.
Fraqueza muscular
Frequência: 10/10
37sintomas
Muito frequente (11)
Frequente (14)
Muito raro (1)
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.

Cardiomiopatia hipertróficaHypertrophic cardiomyopathy
Muito frequente (99-80%)100%
Cardiomiopatia dilatadaDilated cardiomyopathy
Muito frequente (99-80%)100%
Insuficiência cardíaca congestivaCongestive heart failure
Frequência: 2/2100%
Concentração elevada de creatina quinase circulanteElevated circulating creatine kinase concentration
Frequência: 2/2100%
Acúmulo de autofagossomos no músculo esqueléticoSkeletal muscle autophagosome accumulation
Frequência: 10/10100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico341PubMed
Últimos 10 anos200publicações
Pico202531 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: Atividade de biotinidase
Fase 1 do PNTN
Incidência no Brasil: 1:60.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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: X-linked dominant.

LAMP2Lysosome-associated membrane glycoprotein 2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Lysosome membraneEndosome membraneCell membraneCytoplasmic vesicle, autophagosome membrane

VIAS BIOLÓGICAS (1)
Chaperone Mediated Autophagy
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
148.1 TPM
Fibroblastos
112.4 TPM
Cervix Ectocervix
74.3 TPM
Sangue
71.8 TPM
Glândula salivar
70.5 TPM
OUTRAS DOENÇAS (1)
Danon disease
HGNC:6501UniProt:P13473

Variantes genéticas (ClinVar)

398 variantes patogênicas registradas no ClinVar.

🧬 LAMP2: NM_002294.3(LAMP2):c.631del (p.Thr211fs) ()
🧬 LAMP2: NM_002294.3(LAMP2):c.271C>T (p.Gln91Ter) ()
🧬 LAMP2: NM_002294.3(LAMP2):c.628del (p.Thr210fs) ()
🧬 LAMP2: NM_002294.3(LAMP2):c.590dup (p.Ala198fs) ()
🧬 LAMP2: NM_002294.3(LAMP2):c.542_543del (p.Thr181fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 656 variantes classificadas pelo ClinVar.

33
426
197
Patogênica (5.0%)
VUS (64.9%)
Benigna (30.0%)
VARIANTES MAIS SIGNIFICATIVAS
LAMP2: NM_002294.3(LAMP2):c.631del (p.Thr211fs) [Pathogenic]
LAMP2: NM_002294.3(LAMP2):c.26T>C (p.Val9Ala) [Uncertain significance]
LAMP2: NM_002294.3(LAMP2):c.489TGT[1] (p.Val165del) [Uncertain significance]
LAMP2: NM_002294.3(LAMP2):c.658G>A (p.Ala220Thr) [Uncertain significance]
LAMP2: NM_002294.3(LAMP2):c.587C>T (p.Thr196Ile) [Uncertain significance]

Vias biológicas (Reactome)

3 vias biológicas associadas 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

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
1Fase 11
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 7 ensaios
Carregando informações de tratamento...

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

🟢 Recrutando agora

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

Outros ensaios clínicos

7 ensaios clínicos encontrados, 4 ativos.

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

Timeline de publicações
230 papers (10 anos)
#1

Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.

Stem cell research2026 Apr

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.

#2

[A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].

Zhonghua er ke za zhi = Chinese journal of pediatrics2026 Mar 02

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。.

#3

Danon disease associated multiple manifestations of arrhythmias in a child.

European heart journal2026 Mar 05
#4

Danon Disease Diagnosed by Multimodal Imaging.

JACC. Case reports2026 Mar 18

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.

#5

Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.

Current cardiology reviews2026 Mar 11

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

Ver todas no PubMed

📚 EuropePMC251 artigos no totalmostrando 197

2026

Danon Disease Diagnosed by Multimodal Imaging.

JACC. Case reports
2026

Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.

Current cardiology reviews
2026

Danon disease presenting with transient stroke-like weakness in a young woman: a case report.

Frontiers in cardiovascular medicine
2026

Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.

Stem cell research
2026

[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
2026

[A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Regression of massive left ventricular hypertrophy in Danon disease.

Acta cardiologica
2026

Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.

Acta ophthalmologica
2026

Danon disease: Two case reports and literature review.

Medicine
2025

Danon disease without hypertrophy: a phenotypic paradox driven by a de novo LAMP2 mutation.

European heart journal. Case reports
2025

Genetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation.

Journal of cardiovascular development and disease
2025

Danon disease presenting with atypical non-septal sparing LGE on cardiac MRI: a case report.

European heart journal. Case reports
2025

Misdiagnosis of 99mTc-PYP-positive Danon disease as ATTR-CA: a case report and molecular imaging pitfalls.

BMC cardiovascular disorders
2026

Danon disease associated multiple manifestations of arrhythmias in a child.

European heart journal
2025

Current Achievements in Gene Therapy Strategies and Delivery Systems in Preclinical and Clinical Models of Heart Failure.

Current heart failure reports
2025

Cardiac MRI in Danon's Disease-A Phenocopy of Hypertrophic Cardiomyopathy in Young Adults.

Echocardiography (Mount Kisco, N.Y.)
2025

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 Organs
2025

Early-onset severe cardiomyopathy in a Danon disease patient with a novel LAMP2 mutation.

Cardiology journal
2025

A novel LAMP2 initiation codon mutation causes Danon Disease: a case report.

Frontiers in cardiovascular medicine
2025

Atypical late gadolinium enhancement pattern in danon disease: a case report.

QJM : monthly journal of the Association of Physicians
2025

Danon disease in male patients: a prospective natural history study to augment understanding of the phenotype.

Orphanet journal of rare diseases
2025

Danon disease: From genetic origins and molecular defects to therapeutic advances.

Disease-a-month : DM
2025

Drug-Refractory Peripartum Cardiomyopathy With Novel Loss-of-function Variants in LAMP2 and TTN.

Circulation. Heart failure
2025

Foreword danon disease: From genetic origins and molecular defects to therapeutic advances.

Disease-a-month : DM
2026

Danon Disease Diagnosed by Multimodal Imaging: A Case Report.

Journal of clinical ultrasound : JCU
2025

LAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.

Cardiology in the young
2026

Sex-Specific Cardiac Magnetic Resonance Phenotypes in Danon Disease: A Retrospective Cohort Study.

Journal of magnetic resonance imaging : JMRI
2025

A Fasciculoventricular Accessory Pathway Featuring Functional Decremental Conduction and QRS Variability.

Arrhythmia &amp; electrophysiology review
2025

Danon disease mimicking myocarditis.

The international journal of cardiovascular imaging
2025

Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.

Diagnostics (Basel, Switzerland)
2025

Myocardial hypertrabeculation: a rare manifestation of Danon disease.

European heart journal. Cardiovascular Imaging
2025

A 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 medicine
2025

An 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 Association
2025

Rat 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 Society
2025

Genetic Medicine for Danon Disease.

The New England journal of medicine
2025

Hypertrophic cardiomyopathy: prevalence of disease-specific red flags.

European heart journal
2025

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

Cellular &amp; molecular biology letters
2024

Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies.

International journal of molecular sciences
2025

Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.

The New England journal of medicine
2025

Randomized Study Comparing a Novel Intranasal Formulation of Bumetanide With Oral and Intravenous Formulations.

Circulation
2025

NEJM at AHA - Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.

The New England journal of medicine
2024

Focusing in on the Danon Disease Heart.

JACC. Case reports
2024

Danon Disease in a 14-Year-Old: An Exclusively Cardiac Phenotype.

JACC. Case reports
2024

History and Perspective of LAMP-2 Deficiency (Danon Disease).

Biomolecules
2025

Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.

The Canadian journal of cardiology
2024

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Ophthalmic genetics
2024

A tale of two phenotypes: transition from hypertrophic to dilated cardiomyopathy in Danon disease.

European heart journal. Case reports
2024

Altered fatty acid distribution in lysosome-associated membrane protein-2 deficient mice.

Biochemistry and biophysics reports
2025

Danon 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)
2024

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 journal
2024

Corrigendum: Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.

Frontiers in cardiovascular medicine
2024

Endovascular treatment in Danon disease: a case report.

Journal of medical case reports
2024

Efficient 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 Transplantation
2024

Case Report: Multiple types of arrhythmias in a late-confirmed Danon disease.

Frontiers in cardiovascular medicine
2024

A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study.

Cell journal
2024

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.

Medicina (Kaunas, Lithuania)
2024

A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.

Circulation journal : official journal of the Japanese Circulation Society
2024

A Deep Learning Pipeline for Assessing Ventricular Volumes from a Cardiac MRI Registry of Patients with Single Ventricle Physiology.

Radiology. Artificial intelligence
2024

Danon disease manifesting as dilated cardiomyopathy in a 37-year-old woman.

European heart journal. Cardiovascular Imaging
2023

Hypertrophic cardiomyopathy secondary to deficiency in lysosome-associated membrane protein-2: A case report.

World journal of cardiology
2024

Paediatric hypertrophic cardiomyopathy secondary to Danon disease.

Cardiology in the young
2024

Applications of Gene Therapy in Cardiomyopathies.

JACC. Heart failure
2024

Multimodal imaging in Danon disease.

Journal francais d'ophtalmologie
2023

Cerebral Blood Flow, Brain Injury, and Aortic-Pulmonary Collateral Flow After the Fontan Operation.

The American journal of cardiology
2023

International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.

Journal of the American College of Cardiology
2023

Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.

International journal of molecular sciences
2023

Danon disease: Rare cause of cardiomyopathy.

Kardiologia polska
2023

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Genes
2023

A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms.

Pharmacogenomics and personalized medicine
2023

Mitochondria are secreted in extracellular vesicles when lysosomal function is impaired.

Nature communications
2023

Effect of pharmacological heart failure drugs and gene therapy on Danon's cardiomyopathy.

Biochemical pharmacology
2023

Clinical manifestations and MRI features of Danon disease: a case series.

BMC cardiovascular disorders
2023

A modified extended Morrow procedure to relieve symptoms of the patient with Danon disease: a case report.

European heart journal. Case reports
2023

Dropped Head Syndrome Secondary to Danon Disease: A Case Report.

Cureus
2023

Clinical features of pediatric Danon disease and the importance of early diagnosis.

International journal of cardiology
2023

Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.

Neuropathology and applied neurobiology
2023

Identification 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 &amp; genomic medicine
2023

Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.

ESC heart failure
2023

Danon disease in a Sardinian family: different aspects of the same mutation-a case report.

European heart journal. Case reports
2023

Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.

Frontiers in cardiovascular medicine
2023

Danon Disease Presenting as Eosinophilic Myocarditis: Key Role of Endomyocardial Biopsy.

JACC. Case reports
2022

New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.

Folia medica
2023

The Small GTPase Rab7 Regulates Release of Mitochondria in Extracellular Vesicles in Response to Lysosomal Dysfunction.

bioRxiv : the preprint server for biology
2022

Metabolic Maturation Exaggerates Abnormal Calcium Handling in a Lamp2 Knockout Human Pluripotent Stem Cell-Derived Cardiomyocyte Model of Danon Disease.

Biomolecules
2023

[Clinical characteristics of Danon disease].

Zhonghua xin xue guan bing za zhi
2023

Myocardial Tissue Characterization in Danon Disease.

Radiology
2023

A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease.

Cardiology in the young
2023

Genetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments.

European heart journal
2022

Dilated Cardiomyopathy and Systolic Heart Failure in a Female Patient With Danon Disease.

Cureus
2022

Danon Cardiomyopathy: Specific Imaging Signs.

JACC. Case reports
2022

DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.

Retinal cases &amp; brief reports
2022

De novo LAMP2 insertion mutation causes cardiac-only Danon disease: A case report.

Frontiers in cardiovascular medicine
2022

X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.

Neurology India
2022

Autophagy guided interventions to modify the cardiac phenotype of Danon disease.

Biochemical pharmacology
2022

Case Report: Danon Disease: Six Family Members and Literature Review.

Frontiers in cardiovascular medicine
2022

Relationship Between Fragmented QRS Complex and Left Ventricular Fibrosis and Function in Patients With Danon Disease.

Frontiers in cardiovascular medicine
2022

Cardiac MRI of Hereditary Cardiomyopathy.

Radiographics : a review publication of the Radiological Society of North America, Inc
2022

Familial Hypertrophic Cardiomyopathy With Fasciculoventricular Accessory Pathway.

JACC. Case reports
2022

A Frequent Observation of Wolff-Parkinson-White Syndrome and Fasciculoventricular Pathways in Patients With Danon Disease.

Circulation journal : official journal of the Japanese Circulation Society
2021

Four-dimensional echocardiography and left ventricular systolic strain measured via two-dimensional speckle-tracking for Danon disease: a case series.

European heart journal. Case reports
2021

Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease.

Frontiers in cardiovascular medicine
2021

Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies.

Journal of the American Heart Association
2022

Cardiac Transplantation in Danon Disease.

Journal of cardiac failure
2023

Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.

Trends in cardiovascular medicine
2021

Mild form of Danon disease: two case reports.

Neuromuscular disorders : NMD
2021

LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart.

Journal of the American Heart Association
2021

Scintigraphy false-positive results for cardiac amyloidosis in a patient with Danon disease.

Clinical case reports
2021

Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.

International journal of molecular sciences
2021

Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series.

European heart journal. Case reports
2021

Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies.

Current cardiology reports
2021

Danon disease: a case report and literature review.

Diagnostic pathology
2021

Cardiac MRI in Danon Disease: Sex-specific Differences and Characteristic Imaging Findings.

Radiology
2021

Cardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series.

Radiology
2021

Fasciculoventricular and atrioventricular accessory pathways in patients with Danon disease and preexcitation: A multicenter experience.

Heart rhythm
2021

Clinical and molecular characterization of seven patients with Danon disease.

Experimental and therapeutic medicine
2021

Progression of Danon disease with medical imaging: two case reports.

The Journal of international medical research
2020

Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease.

Frontiers in genetics
2021

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Orphanet journal of rare diseases
2021

Impaired autophagy: The collateral damage of lysosomal storage disorders.

EBioMedicine
2020

[Pathological diagnosis of Danon disease by endomyocardial biopsy].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2021

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.

Clinical genetics
2020

Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.

Genes
2020

Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.

Circulation. Genomic and precision medicine
2020

Generation of induced pluripotent stem cells (NJDTHi001-A) from a Danon disease child with mutation of c.467 T > G in LAMP2 gene.

Stem cell research
2020

A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene.

Medicine
2021

Cardiac Magnetic Resonance Imaging in Danon Disease Cardiomyopathy.

JACC. Cardiovascular imaging
2020

An unusual case of severe myocarditis in a genetic cardiomyopathy: a case report.

European heart journal. Case reports
2020

Wolff Parkinson white pattern in Danon disease: When preexcitation is not what it seems.

Journal of electrocardiology
2022

Outer Retinal Abnormalities in a Patient with Danon Disease.

Retinal cases &amp; brief reports
2020

Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes.

Journal of clinical medicine
2020

Apical Sparing Strain Pattern in Danon Disease: Insights From a Global Registry.

JACC. Cardiovascular imaging
2020

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

ESC heart failure
2021

The multiple faces of Danon disease.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
2021

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Acta ophthalmologica
2020

Clinical features and cardiovascular magnetic resonance characteristics in Danon disease.

Clinical radiology
2020

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.

BMC cardiovascular disorders
2020

Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.

Science translational medicine
2020

Thrombotic microangiopathy following heart transplant in pediatric Danon disease.

Pediatric transplantation
2020

Danon Disease with Internal Carotid Artery Occlusion Showing Good Clinical Outcome Due to Robust Collaterals.

Annals of Indian Academy of Neurology
2020

Lysosomal Abnormalities in Cardiovascular Disease.

International journal of molecular sciences
2020

Diagnostic 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 Cardiology
2020

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

American journal of medical genetics. Part A
2019

Multimodality Imaging of Danon Disease in a Patient with a Novel LAMP2 Mutation.

CASE (Philadelphia, Pa.)
2020

Review: Danon disease: Review of natural history and recent advances.

Neuropathology and applied neurobiology
2020

Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.

Biochemical and biophysical research communications
2019

Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series.

European heart journal. Case reports
2019

Left ventricular assist device implantation in an adult male with Danon disease.

Journal of cardiology cases
2019

A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.

Molecular genetics &amp; genomic medicine
2019

Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.

Experimental and therapeutic medicine
2019

A 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.

Cells
2019

Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation.

Anaesthesiology intensive therapy
2019

Danon 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 genetics
2019

Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience.

Journal of cardiovascular electrophysiology
2019

Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy.

Journal of molecular and cellular cardiology
2018

Repeat Cardiac Transplant Indicated by Severe Cardiac Allograft Vasculopathy in a Patient With Danon Disease.

Reviews in cardiovascular medicine
2019

Twenty-five-year-old woman with palpitations and hypertrophic cardiomyopathy.

Heart Asia
2020

Heart transplantation in Danon disease: Long term single centre experience and review of the literature.

European journal of medical genetics
2019

Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.

Molecular genetics &amp; genomic medicine
2019

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circulation. Genomic and precision medicine
2019

Danon disease: Gender differences in presentation and outcomes.

International journal of cardiology
2020

Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium.

European journal of ophthalmology
2019

A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.

Molecular genetics &amp; genomic medicine
2019

Lysosomal storage disorders affecting the heart: a review.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2019

LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion.

Proceedings of the National Academy of Sciences of the United States of America
2019

Heart transplantation in two adolescents with Danon disease.

Pediatric transplantation
2019

Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene.

Revue neurologique
2018

Cardiac Resynchronization Therapy-Pacemaker Implantation Guided by Three-Dimensional Electroanatomic Mapping for a Chinese Young Man with Danon Disease.

Chinese medical journal
2018

A Nationwide Survey on Danon Disease in Japan.

International journal of molecular sciences
2018

Fasciculoventricular Pathways Responsible for Ventricular Preexcitation in Patients With Danon Disease.

Circulation. Arrhythmia and electrophysiology
2018

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

American journal of medical genetics. Part A
2019

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.

Revista espanola de cardiologia (English ed.)
2018

The Major Lysosomal Membrane Proteins LAMP-1 and LAMP-2 Participate in Differentiation of C2C12 Myoblasts.

Biological &amp; pharmaceutical bulletin
2019

A 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 genetics
2018

Characterisation of Lamp2-deficient rats for potential new animal model of Danon disease.

Scientific reports
2018

A Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2 Gene.

Cureus
2018

Genetic Infiltrative Cardiomyopathies.

Heart failure clinics
2018

Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction.

International journal of cardiology
2018

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.

Scientific reports
2018

A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy.

European heart journal
2018

Characteristics of induced pluripotent stem cells from clinically divergent female monozygotic twins with Danon disease.

Journal of molecular and cellular cardiology
2017

Heart 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 Transplantation
2017

Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function.

Case reports in pediatrics
2017

Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice.

Circulation. Heart failure
2017

Cardiac Danon disease: Insights and challenges.

International journal of cardiology
2017

Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).

International journal of cardiology
2018

Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management.

Molecular genetics and metabolism
2017

Danon disease for the cardiologist: case report and review of the literature.

Journal of community hospital internal medicine perspectives
2017

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).

American journal of medical genetics. Part A
2019

Neuropsychological functioning following cardiac transplant in Danon disease.

Developmental neurorehabilitation
2017

Impaired mitophagy facilitates mitochondrial damage in Danon disease.

Journal of molecular and cellular cardiology
2016

Hypertrophic Cardiomyopathy with Unusual Extensive Scarring Pattern: Danon Disease.

Methodist DeBakey cardiovascular journal
2017

Human-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders.

Current cardiology reports
2017

A 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 &amp; immunology
2017

Autophagy dysregulation in Danon disease.

Cell death &amp; disease
2017

Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy.

The Annals of thoracic surgery
2016

Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.

Neuromuscular disorders : NMD
Ver todos os 251 no EuropePMC

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.
    Stem cell research· 2026· PMID 41713383mais citado
  2. [A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].
    Zhonghua er ke za zhi = Chinese journal of pediatrics· 2026· PMID 41674428mais citado
  3. Danon disease associated multiple manifestations of arrhythmias in a child.
    European heart journal· 2026· PMID 41342361mais citado
  4. Danon Disease Diagnosed by Multimodal Imaging.
    JACC. Case reports· 2026· PMID 41854324mais citado
  5. Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.
    Current cardiology reviews· 2026· PMID 41830166mais citado
  6. Danon Disease: Clinical Manifestations, Pathophysiology, and Treatment.
    Cardiol Rev· 2026· PMID 41913263recente
  7. Ophthalmic manifestations of Danon disease: A systematic review.
    Am J Ophthalmol· 2026· PMID 41895389recente
  8. Danon disease presenting with transient stroke-like weakness in a young woman: a case report.
    Front Cardiovasc Med· 2026· PMID 41815899recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:34587(Orphanet)
  2. OMIM OMIM:300257(OMIM)
  3. MONDO:0010281(MONDO)
  4. GARD:9730(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Doença Danon
Compêndio · Raras BR

Doença Danon

ORPHA:34587 · MONDO:0010281
🇧🇷 Brasil SUS
Triagem
Atividade de biotinidase
PNTN
Fase 1
Incidência BR
1:60.000
Geral
Prevalência
<1 / 1 000 000
Casos
84 casos conhecidos
Herança
X-linked dominant
CID-10
E74.0 · Doença de depósito de glicogênio
CID-11
Ensaios
4 ativos
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0878677
EuropePMC
Wikidata
Papers 10a
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