{"Name":"Essential pentosuria","DiseaseID__c":"GARD:0000418","id":418,"encodedName":"essential-pentosuria","IsDeleted":false,"Disease_Name_Full__c":"Essential pentosuria","Xref_IDs__c":"190764000; C0268162; C536652; DOID:0111258; MEDGEN:78646; MONDO:0009846; OMIM:260800; ORPHA:2843","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009846","Disease_Description__c":"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.","GARD_Name__c":"Essential pentosuria","GARD_Synonym__c":"essential benign pentosuria; l-xylulose reductase deficiency; l-xylulosuria; pentosuria; pntsu; xylitol dehydrogenase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009846","Curated_Disease_Description__c":"Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2843","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009846","ORPHANET_ID__c":"ORPHA:2843","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pentosuria","Spanish_Description_Source__c":"ORPHA:2843","Spanish_Description__c":"La pentosuria es un error congénito del metabolismo que se caracteriza por la excreción de 1 a 4 g. de pentosa L-xilulosa en la orina por día.","Spanish_Disease_Name__c":"pentosuria","Spanish_GARD_Synonym__c":"pentosuria esencial","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":"Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.","Curated_Disease_Description_Source__c":"MONDO:0009846","GARD_Synonym__c":"essential benign pentosuria; l-xylulose reductase deficiency; l-xylulosuria; pentosuria; pntsu; xylitol dehydrogenase deficiency","Name":"Essential pentosuria","estimateUsa":""}],"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":"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:2843"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2843"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268162"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000418","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536652","Source__c":"MONDO:0009846","Xref__c":"C536652"},{"URL__c":"https://www.orpha.net/en/disease/detail/2843","Source__c":"C0268162; MONDO:0009846; ORPHA:2843","Xref__c":"ORPHA:2843"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111258","Source__c":"MONDO:0009846","Xref__c":"DOID:0111258"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268162","Source__c":"C0268162","Xref__c":"C0268162"},{"URL__c":"https://www.omim.org/entry/260800","Source__c":"C0268162; MONDO:0009846; ORPHA:2843","Xref__c":"OMIM:260800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78646","Source__c":"C0268162","Xref__c":"MEDGEN:78646"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=190764000","Source__c":"C0268162; MONDO:0009846","Xref__c":"190764000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009846","Source__c":"GARD:0000418","Xref__c":"MONDO:0009846"},{"URL__c":"https://medlineplus.gov/genetics/condition/essential-pentosuria","Source__c":"GARD:0000418","Xref__c":"https://medlineplus.gov/genetics/condition/essential-pentosuria"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCXR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dcxr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2843","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of an enzyme in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011021","HPO_Synonym__c":"Abnormality of circulating enzyme level","HPO_Name__c":"Abnormal circulating enzyme concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2843","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from the normal concentration of a carbohydrate in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011013","HPO_Name__c":"Abnormal circulating carbohydrate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2843","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of a carbohydrate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031979","HPO_Name__c":"Abnormal urine carbohydrate level","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["essential benign pentosuria"," l-xylulose reductase deficiency"," l-xylulosuria"," pentosuria"," pntsu"," xylitol dehydrogenase deficiency"]}