{"Name":"Glycogen storage disease type III","DiseaseID__c":"GARD:0009442","id":9442,"encodedName":"glycogen-storage-disease-type-iii","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease type III","Xref_IDs__c":"66937008; C0017922; C84736; D006010; DOID:2748; E74.03; MEDGEN:6641; MONDO:0009291; NBK26372; OMIM:232400; ORPHA:366","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0009291","Disease_Description__c":"Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.","GARD_Name__c":"Glycogen storage disease type III","GARD_Synonym__c":"agl glycogen storage disease; amylo 1,6 glucosidase deficiency; amylo-1,6-glucosidase deficiency; cori disease; cori-forbes disease; cori's disease; debrancher deficiency glycogen storage disease; debrancher enzyme deficiency; deficiency of debranching enzyme; deficiency of dextrin; forbes disease; gde deficiency; glycogen storage disease caused by mutation in agl; glycogen storage disease due to glycogen debranching enzyme deficiency; glycogen storage disease iii; glycogen storage disease type 3; glycogen storage disease, type iii; glycogenosis due to glycogen debranching enzyme deficiency; glycogenosis type 3; glycogenosis type iii; gsd due to glycogen debranching enzyme deficiency; gsd iii; gsd type 3; gsd3; gsdiii; limit dextrin - glycogen; limit dextrinosis","Curated_Disease_Description_Source__c":"GARD:0009442","Curated_Disease_Description__c":"Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition. Beginning in infancy, individuals with any type of GSDIII may have low blood glucose (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver. Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:366","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009291","ORPHANET_ID__c":"ORPHA:366","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de enzima desramificante del glucógeno","Spanish_Description_Source__c":"ORPHA:366","Spanish_Description__c":"El déficit de enzima desramificante del glucógeno (GDE) o enfermedad de almacenamiento del glucógeno tipo 3 (GSD 3), es una forma de enfermedad de almacenamiento del glucógeno caracterizada por debilidad muscular grave y hepatopatía.","Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de enzima desramificante del glucógeno","Spanish_GARD_Synonym__c":"deficiencia de amilo-1,6- glucosidasa; deficiencia de gde; dextrinosis límite; enfermedad de almacenamiento de glucógeno tipo 3; enfermedad de almacenamiento de glucógeno tipo iii; enfermedad de cori; enfermedad de cori-forbes; enfermedad de forbes; glucogenosis por deficiencia de enzima desramificante del glucógeno; glucogenosis tipo 3; glucogenosis tipo iii; gsd por deficiencia de enzima desramificante del glucógeno; gsd tipo 3; gsdiii","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 III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition. Beginning in infancy, individuals with any type of GSDIII may have low blood glucose (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver. Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.","Curated_Disease_Description_Source__c":"GARD:0009442","GARD_Synonym__c":"agl glycogen storage disease; amylo 1,6 glucosidase deficiency; amylo-1,6-glucosidase deficiency; cori disease; cori-forbes disease; cori's disease; debrancher deficiency glycogen storage disease; debrancher enzyme deficiency; deficiency of debranching enzyme; deficiency of dextrin; forbes disease; gde deficiency; glycogen storage disease caused by mutation in agl; glycogen storage disease due to glycogen debranching enzyme deficiency; glycogen storage disease iii; glycogen storage disease type 3; glycogen storage disease, type iii; glycogenosis due to glycogen debranching enzyme deficiency; glycogenosis type 3; glycogenosis type iii; gsd due to glycogen debranching enzyme deficiency; gsd iii; gsd type 3; gsd3; gsdiii; limit dextrin - glycogen; limit dextrinosis","Name":"Glycogen storage disease type III","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.org"},{"Account_Name__c":"Association for Glycogen Storage Disease UK","Website__c":"https://www.agsd.org.uk/"},{"Account_Name__c":"The Children's Fund for Glycogen Storage Disease Research","Website__c":"https://www.curegsd.org/"},{"Account_Name__c":"International Association for Muscle Glycogen Storage Disease","Website__c":"https://www.iamgsd.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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:366"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:366"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0017922"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009442","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK26372","Source__c":"Gene Review","Xref__c":"NBK26372"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006010","Source__c":"C0017922; MONDO:0009291","Xref__c":"D006010"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66937008","Source__c":"C0017922; MONDO:0009291","Xref__c":"66937008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84736","Source__c":"C0017922; MONDO:0009291","Xref__c":"C84736"},{"URL__c":"https://www.omim.org/entry/232400","Source__c":"C0017922; MONDO:0009291; ORPHA:366","Xref__c":"OMIM:232400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017922","Source__c":"C0017922","Xref__c":"C0017922"},{"URL__c":"https://www.orpha.net/en/disease/detail/366","Source__c":"C0017922; MONDO:0009291; ORPHA:366","Xref__c":"ORPHA:366"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6641","Source__c":"C0017922","Xref__c":"MEDGEN:6641"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2748","Source__c":"MONDO:0009291","Xref__c":"DOID:2748"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009291","Source__c":"GARD:0009442","Xref__c":"MONDO:0009291"},{"URL__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii","Source__c":"GARD:0009442","Xref__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E74.03","Source__c":"MONDO:0009291","Xref__c":"E74.03"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AGL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/agl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:366","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Cardiology","Neurology","Gastroenterology","Neuromuscular medicine","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["agl glycogen storage disease"," amylo 1,6 glucosidase deficiency"," amylo-1,6-glucosidase deficiency"," cori disease"," cori-forbes disease"," cori's disease"," debrancher deficiency glycogen storage disease"," debrancher enzyme deficiency"," deficiency of debranching enzyme"," deficiency of dextrin"," forbes disease"," gde deficiency"," glycogen storage disease caused by mutation in agl"," glycogen storage disease due to glycogen debranching enzyme deficiency"," glycogen storage disease iii"," glycogen storage disease type 3"," glycogen storage disease, type iii"," glycogenosis due to glycogen debranching enzyme deficiency"," glycogenosis type 3"," glycogenosis type iii"," gsd due to glycogen debranching enzyme deficiency"," gsd iii"," gsd type 3"," gsd3"," gsdiii"," limit dextrin - glycogen"," limit dextrinosis"]}