{"Name":"Danon disease","DiseaseID__c":"GARD:0009730","id":9730,"encodedName":"danon-disease","IsDeleted":false,"Disease_Name_Full__c":"Danon disease","Xref_IDs__c":"419097006; C0878677; C84735; D052120; DOID:0050437; MEDGEN:209235; MONDO:0010281; NBK554742; OMIM:300257; ORPHA:34587","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010281","Disease_Description__c":"A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).","GARD_Name__c":"Danon disease","GARD_Synonym__c":"antopol disease; danon disease, x-linked dominant; glycogen storage disease due to lamp-2 deficiency; glycogen storage disease due to lysosomal associated membrane protein 2 deficiency; glycogen storage disease type iib; glycogenosis due to lamp-2 deficiency; gsd due to lamp-2 deficiency; gsd iib; lamp2 lysosomal glycogen storage disease; lysosomal glycogen storage disease caused by mutation in lamp2; lysosomal glycogen storage disease with normal acid maltase activity; lysosomal glycogen storage disease without acid maltase deficiency; pseudoglycogenosis ii","Curated_Disease_Description_Source__c":"GARD:0009730","Curated_Disease_Description__c":"Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles (myopathy); and intellectual disabilities. People with Danon disease may develop the condition at different ages. Signs and symptoms of this condition appear about 15 years earlier in males than in females. Males first experience health problems in childhood or adolescence; without treatment, these individuals typically live into early adulthood. Females start experiencing health problems in early adulthood and typically survive into mid-adulthood without treatment. Cardiomyopathy is the most common symptom of Danon disease, and it occurs in all males and in most females. Beginning in childhood, most affected males develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Others with Danon disease may have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. About half of females with Danon disease have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Rarely, individuals with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death. Individuals with Danon disease can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). Affected individuals often have a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. Skeletal myopathy occurs in most males with Danon disease and in some affected females. The weakness typically occurs in the muscles of the shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease. Most males with Danon disease have mild intellectual disabilities, but this is much less common in affected females. There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:34587","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010281","ORPHANET_ID__c":"ORPHA:34587","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de danon","Spanish_Description_Source__c":"ORPHA:34587","Spanish_Description__c":"Es un trastorno genético poco frecuente ligado al cromosoma X por deficiencia de la proteína de membrana asociada al lisosoma 2 (LAMP2), caracterizado por miocardiopatía grave y grados variables de debilidad muscular frecuentemente asociada a déficit intelectual (en varones).","Spanish_Disease_Name__c":"enfermedad de danon","Spanish_GARD_Synonym__c":"enfermedad de almacenamiento de glucógeno por deficiencia de lamp-2; enfermedad de almacenamiento de glucógeno tipo 2b; enfermedad de almacenamiento de glucógeno tipo iib; enfermedad de depósito de glucógeno por deficiencia de lamp-2; enfermedad de depósito lisosomal de glucógeno con actividad normal de maltasa ácida; glucogenosis por deficiencia de lamp-2; gsd por deficiencia de lamp-2; gsd tipo 2b; gsd tipo iib","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles (myopathy); and intellectual disabilities. People with Danon disease may develop the condition at different ages. Signs and symptoms of this condition appear about 15 years earlier in males than in females. Males first experience health problems in childhood or adolescence; without treatment, these individuals typically live into early adulthood. Females start experiencing health problems in early adulthood and typically survive into mid-adulthood without treatment. Cardiomyopathy is the most common symptom of Danon disease, and it occurs in all males and in most females. Beginning in childhood, most affected males develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Others with Danon disease may have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. About half of females with Danon disease have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Rarely, individuals with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death. Individuals with Danon disease can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). Affected individuals often have a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern. Skeletal myopathy occurs in most males with Danon disease and in some affected females. The weakness typically occurs in the muscles of the shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease. Most males with Danon disease have mild intellectual disabilities, but this is much less common in affected females. There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.","Curated_Disease_Description_Source__c":"GARD:0009730","GARD_Synonym__c":"antopol disease; danon disease, x-linked dominant; glycogen storage disease due to lamp-2 deficiency; glycogen storage disease due to lysosomal associated membrane protein 2 deficiency; glycogen storage disease type iib; glycogenosis due to lamp-2 deficiency; gsd due to lamp-2 deficiency; gsd iib; lamp2 lysosomal glycogen storage disease; lysosomal glycogen storage disease caused by mutation in lamp2; lysosomal glycogen storage disease with normal acid maltase activity; lysosomal glycogen storage disease without acid maltase deficiency; pseudoglycogenosis ii","Name":"Danon disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Danon Disease Foundation","Website__c":"https://www.danonfoundation.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.org"},{"Account_Name__c":"Cardiomyopathy Association","Website__c":"https://www.cardiomyopathy.org/"},{"Account_Name__c":"Children's Cardiomyopathy Foundation","Website__c":"https://www.childrenscardiomyopathy.org/"},{"Account_Name__c":"Canadian Association for Glycogen Storage Disease","Website__c":"https://www.canadianagsd.org/"},{"Account_Name__c":"Hypertrophic Cardiomyopathy Association","Website__c":"https://www.4hcm.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:34587"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0878677"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009730","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK554742","Source__c":"Gene Review","Xref__c":"NBK554742"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0878677","Source__c":"C0878677","Xref__c":"C0878677"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419097006","Source__c":"C0878677; MONDO:0010281","Xref__c":"419097006"},{"URL__c":"https://www.omim.org/entry/300257","Source__c":"C0878677; MONDO:0010281; ORPHA:34587","Xref__c":"OMIM:300257"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050437","Source__c":"MONDO:0010281","Xref__c":"DOID:0050437"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C052120","Source__c":"C0878677; MONDO:0010281","Xref__c":"D052120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=209235","Source__c":"C0878677","Xref__c":"MEDGEN:209235"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84735","Source__c":"C0878677; MONDO:0010281","Xref__c":"C84735"},{"URL__c":"https://www.orpha.net/en/disease/detail/34587","Source__c":"C0878677; MONDO:0010281; ORPHA:34587","Xref__c":"ORPHA:34587"},{"URL__c":"https://medlineplus.gov/genetics/condition/danon-disease","Source__c":"GARD:0009730","Xref__c":"https://medlineplus.gov/genetics/condition/danon-disease"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010281","Source__c":"GARD:0009730","Xref__c":"MONDO:0010281"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAMP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lamp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:34587","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34587","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34587","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34587","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006543","HPO_Name__c":"Cardiorespiratory arrest","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34587","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010547","HPO_Name__c":"Muscle flaccidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34587","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Cardiology","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Lysosomal","Cardiomyopathy"]},"synonyms":["antopol disease"," danon disease, x-linked dominant"," glycogen storage disease due to lamp-2 deficiency"," glycogen storage disease due to lysosomal associated membrane protein 2 deficiency"," glycogen storage disease type iib"," glycogenosis due to lamp-2 deficiency"," gsd due to lamp-2 deficiency"," gsd iib"," lamp2 lysosomal glycogen storage disease"," lysosomal glycogen storage disease caused by mutation in lamp2"," lysosomal glycogen storage disease with normal acid maltase activity"," lysosomal glycogen storage disease without acid maltase deficiency"," pseudoglycogenosis ii"],"spanishId":12318,"spanishName":"enfermedad-de-danon"}