{"Name":"Glycogen storage disease XV","DiseaseID__c":"GARD:0017254","id":17254,"encodedName":"glycogen-storage-disease-xv","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease XV","Xref_IDs__c":"717821004; C3150754; DOID:0050579; MEDGEN:462104; MONDO:0013291; OMIM:613507; ORPHA:263297","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013291","Disease_Description__c":"A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.","GARD_Name__c":"Glycogen storage disease XV","GARD_Synonym__c":"glycogen storage disease type 15; glycogen storage disease type xv; glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; glycogenin deficiency; glycogenosis type 15; glycogenosis type xv; glycogenosis with severe cardiomyopathy due to glycogenin deficiency; gsd type 15; gsd type xv; gsd with severe cardiomyopathy due to glycogenin deficiency; gsd xv; gsd15","Curated_Disease_Description_Source__c":"ORPHA:263297","Curated_Disease_Description__c":"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:263297","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013291","ORPHANET_ID__c":"ORPHA:263297","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno con miocardiopatía grave por deficiencia de glucogenina","Spanish_Description_Source__c":"ORPHA:263297","Spanish_Description__c":"Es una enfermedad autosómica recesiva poco frecuente por almacenamiento de glucógeno caracterizada por miocardiopatía grave y dilatación cardíaca que puede progresar a insuficiencia cardíaca que requiere trasplante. Los cardiomiocitos muestran grandes inclusiones de material de almacenamiento compatibles con poliglucosano. Por lo general, no hay evidencia clínica de afectación del músculo esquelético.","Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno con miocardiopatía grave por deficiencia de glucogenina","Spanish_GARD_Synonym__c":"enfermedad de almacenamiento de glucógeno tipo 15; enfermedad de almacenamiento de glucógeno tipo xv; glucogenosis con miocardiopatía grave por deficiencia de glucogenina; glucogenosis tipo 15; glucogenosis tipo xv; gsd con miocardiopatía grave por deficiencia de glucogenina; gsd tipo 15; gsd tipo xv","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":"Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.","Curated_Disease_Description_Source__c":"ORPHA:263297","GARD_Synonym__c":"glycogen storage disease type 15; glycogen storage disease type xv; glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; glycogenin deficiency; glycogenosis type 15; glycogenosis type xv; glycogenosis with severe cardiomyopathy due to glycogenin deficiency; gsd type 15; gsd type xv; gsd with severe cardiomyopathy due to glycogenin deficiency; gsd xv; gsd15","Name":"Glycogen storage disease XV","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"}],"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":"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":"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:263297"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/263297","Source__c":"C3150754; MONDO:0013291","Xref__c":"ORPHA:263297"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150754","Source__c":"C3150754","Xref__c":"C3150754"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717821004","Source__c":"MONDO:0013291","Xref__c":"717821004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462104","Source__c":"C3150754","Xref__c":"MEDGEN:462104"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050579","Source__c":"MONDO:0013291","Xref__c":"DOID:0050579"},{"URL__c":"https://www.omim.org/entry/613507","Source__c":"C3150754; MONDO:0013291; ORPHA:263297","Xref__c":"OMIM:613507"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013291","Source__c":"GARD:0017254","Xref__c":"MONDO:0013291"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GYG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012251","HPO_Name__c":"ST segment elevation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040014","HPO_Name__c":"Increased mitochondrial number","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003199","HPO_Synonym__c":"Decreased muscle mass","HPO_Name__c":"Decreased muscle mass","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased strength of the abdominal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009023","HPO_Synonym__c":"Lax abdominal musculature","HPO_Name__c":"Abdominal wall muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003722","HPO_Synonym__c":"Neck flexion weakness; Neck flexor muscle weakness","HPO_Name__c":"Neck flexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal circulating creatine kinase concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040081","HPO_Synonym__c":"Abnormal circulating CK concentration; Abnormal circulating CPK concentration; Abnormal circulation phospho-CK concentration; Abnormal levels of creatine kinase in blood","HPO_Name__c":"Abnormal circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004756","HPO_Name__c":"Ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inversion of the T-wave (which is normally positive).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010872","HPO_Synonym__c":"EKG: T-wave inversion","HPO_Name__c":"T-wave inversion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031319","HPO_Synonym__c":"Myocyte cellular hypertrophy","HPO_Name__c":"Cardiomyocyte hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002875","HPO_Synonym__c":"Exertional breathlessness; Shortness of breathing upon physical activity","HPO_Name__c":"Exertional dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased amount of glycogen in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012270","HPO_Name__c":"Decreased muscle glycogen content","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001663","HPO_Name__c":"Ventricular fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001714","HPO_Name__c":"Ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005144","HPO_Synonym__c":"Thickened interventricular septum","HPO_Name__c":"Ventricular septal hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263297","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["glycogen storage disease type 15"," glycogen storage disease type xv"," glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"," glycogenin deficiency"," glycogenosis type 15"," glycogenosis type xv"," glycogenosis with severe cardiomyopathy due to glycogenin deficiency"," gsd type 15"," gsd type xv"," gsd with severe cardiomyopathy due to glycogenin deficiency"," gsd xv"," gsd15"]}