{"Name":"Glycogen storage disease, type I","DiseaseID__c":"GARD:0016523","id":16523,"encodedName":"glycogen-storage-disease-type-i","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease, type I","Xref_IDs__c":"7265005; C0017920; C84733; D005953; DOID:0081329; E74.01; MEDGEN:6640; MONDO:0002413; NBK1312; ORPHA:364","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":4,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":6,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0002413","Disease_Description__c":"A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","GARD_Name__c":"Glycogen storage disease, type I","GARD_Synonym__c":"deficiency of glucose-6-phosphatase; g6p deficiency; glycogen storage disease due to g6p deficiency; glycogen storage disease due to glucose-6-phosphatase deficiency; glycogen storage disease i; glycogen storage disease type 1; glycogen storage disease type i; glycogen storage disease, type 1; glycogenosis type 1; glycogenosis type i; gsd due to g6p deficiency; gsd i; gsd type 1; gsd type i; gsd1; hepatorenal glycogen storage disease; hepatorenal glycogenosis; liver glycogen disease; von gierke disease; von gierke's disease","Curated_Disease_Description_Source__c":"ORPHA:364","Curated_Disease_Description__c":"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:364","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002413","ORPHANET_ID__c":"ORPHA:364","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa","Spanish_Description_Source__c":"ORPHA:364","Spanish_Description__c":"Es una enfermedad metabólica hereditaria poco frecuente (que comprende dos subtipos principales: tipo Ia y Ib) caracterizada por mala tolerancia al ayuno, retraso del crecimiento y hepatomegalia resultante del acúmulo de glucógeno y grasa en el hígado","Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa","Spanish_GARD_Synonym__c":"deficiencia de g6p; enfermedad de almacenamiento de glucógeno por deficiencia de g6p; enfermedad de almacenamiento de glucógeno tipo 1; enfermedad de almacenamiento de glucógeno tipo i; enfermedad de von gierke; glucogenosis hepatorrenal; glucogenosis tipo 1; glucogenosis tipo i; gsd por deficiencia de g6p; gsd tipo 1; gsd tipo i","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":"Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","Curated_Disease_Description_Source__c":"ORPHA:364","GARD_Synonym__c":"deficiency of glucose-6-phosphatase; g6p deficiency; glycogen storage disease due to g6p deficiency; glycogen storage disease due to glucose-6-phosphatase deficiency; glycogen storage disease i; glycogen storage disease type 1; glycogen storage disease type i; glycogen storage disease, type 1; glycogenosis type 1; glycogenosis type i; gsd due to g6p deficiency; gsd i; gsd type 1; gsd type i; gsd1; hepatorenal glycogen storage disease; hepatorenal glycogenosis; liver glycogen disease; von gierke disease; von gierke's disease","Name":"Glycogen storage disease, type I","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:364"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:364"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84733","Source__c":"C0017920; MONDO:0002413","Xref__c":"C84733"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081329","Source__c":"MONDO:0002413","Xref__c":"DOID:0081329"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7265005","Source__c":"C0017920; MONDO:0002413","Xref__c":"7265005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005953","Source__c":"C0017920; MONDO:0002413","Xref__c":"D005953"},{"URL__c":"https://www.orpha.net/en/disease/detail/364","Source__c":"C0017920; MONDO:0002413; ORPHA:364","Xref__c":"ORPHA:364"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6640","Source__c":"C0017920","Xref__c":"MEDGEN:6640"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017920","Source__c":"C0017920","Xref__c":"C0017920"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E74.01","Source__c":"MONDO:0002413","Xref__c":"E74.01"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124437004","Source__c":"C0017920","Xref__c":"124437004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002413","Source__c":"GARD:0016523","Xref__c":"MONDO:0002413"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1312","Source__c":"Gene Review","Xref__c":"NBK1312"},{"URL__c":"https://www.fda.gov/media/148303/download?attachment"},{"URL__c":"https://www.fda.gov/media/148302/download?attachment"},{"URL__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i"},{"URL__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i","Source__c":"GARD:0016523","Xref__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:364","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:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000991","HPO_Synonym__c":"Xanthomata; Yellow bumps of fatty deposits on skin","HPO_Name__c":"Xanthomatosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:364","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"}},{"Provided_By__c":"ORPHA:364","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:364","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["deficiency of glucose-6-phosphatase"," g6p deficiency"," glycogen storage disease due to g6p deficiency"," glycogen storage disease due to glucose-6-phosphatase deficiency"," glycogen storage disease i"," glycogen storage disease type 1"," glycogen storage disease type i"," glycogen storage disease, type 1"," glycogenosis type 1"," glycogenosis type i"," gsd due to g6p deficiency"," gsd i"," gsd type 1"," gsd type i"," gsd1"," hepatorenal glycogen storage disease"," hepatorenal glycogenosis"," liver glycogen disease"," von gierke disease"," von gierke's disease"]}