{"Name":"Iminoglycinuria","DiseaseID__c":"GARD:0008424","id":8424,"encodedName":"iminoglycinuria","IsDeleted":false,"Disease_Name_Full__c":"Iminoglycinuria","Xref_IDs__c":"84121007; C0268654; C536285; DOID:0112265; MEDGEN:124342; MONDO:0009448; OMIM:242600; ORPHA:42062","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009448","Disease_Description__c":"A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.","GARD_Name__c":"Iminoglycinuria","GARD_Synonym__c":"iminoglycinuria, digenic","Curated_Disease_Description_Source__c":"MONDO:0009448","Curated_Disease_Description__c":"A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:42062","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009448","ORPHANET_ID__c":"ORPHA:42062","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Iminoglicinuria","Spanish_Description_Source__c":"ORPHA:42062","Spanish_Description__c":"Es un error congénito del metabolismo poco frecuente caracterizado por unos niveles elevados de iminoácidos (prolina, hidroxiprolina) y de glicina en la orina derivados de una reabsorción renal defectuosa. El trastorno se considera benigno y no está asociado a ningún fenotipo clínico específico. El modo de herencia es autosómico recesivo.","Spanish_Disease_Name__c":"iminoglicinuria","Spanish_GARD_Synonym__c":null,"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":"A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009448","GARD_Synonym__c":"iminoglycinuria, digenic","Name":"Iminoglycinuria","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"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":"All ages","Provided_By__c":"ORPHA:42062"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268654"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008424","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268654","Source__c":"C0268654","Xref__c":"C0268654"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124342","Source__c":"C0268654","Xref__c":"MEDGEN:124342"},{"URL__c":"https://www.orpha.net/en/disease/detail/42062","Source__c":"C0268654; MONDO:0009448; ORPHA:42062","Xref__c":"ORPHA:42062"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536285","Source__c":"MONDO:0009448","Xref__c":"C536285"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112265","Source__c":"MONDO:0009448","Xref__c":"DOID:0112265"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84121007","Source__c":"C0268654; MONDO:0009448","Xref__c":"84121007"},{"URL__c":"https://www.omim.org/entry/242600","Source__c":"C0268654; MONDO:0009448; ORPHA:42062","Xref__c":"OMIM:242600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009448","Source__c":"GARD:0008424","Xref__c":"MONDO:0009448"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC36A2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:42062","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An elevated concentration of glycine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002154","HPO_Synonym__c":"Elevated blood glycine levels; Hyperglycinaemia","HPO_Name__c":"Hyperglycinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:42062","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An increased concentration of hydroxyproline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003260","HPO_Synonym__c":"High blood hydroxyproline levels","HPO_Name__c":"Hydroxyprolinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:42062","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased concentration of 4-hydroxy-L-proline in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003080","HPO_Synonym__c":"Elevated urinary hydroxyproline","HPO_Name__c":"Hydroxyprolinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:42062","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Level of proline in the urine anove the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003137","HPO_Synonym__c":"Proline high in urine","HPO_Name__c":"Prolinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:42062","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An increased concentration of proline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008358","HPO_Synonym__c":"Prolinemia","HPO_Name__c":"Hyperprolinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:42062","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased concentration of glycine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003108","HPO_Synonym__c":"Glycinuria; High urine glycine levels","HPO_Name__c":"Hyperglycinuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["iminoglycinuria, digenic"]}