{"orpha":42062,"name":"Iminoglycinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-42062/","orphanet_url":"https://www.orpha.net/en/disease/detail/42062","names":{"fr":{"name":"Iminoglycinurie","definition":"Erreur innée du métabolisme qui se caractérise par des niveaux élevés d'acides aminés (proline, hydroxyproline) et de glycine dans l'urine, résultant d'une anomalie de la réabsorption rénale. Considérée comme bénigne, la maladie n'est associée à aucun phénotype clinique spécifique. Elle est transmise selon le mode autosomique récessif."},"de":{"name":"Iminoglycinurie","definition":"Seltene angeborene Stoffwechselstörung, die durch einen erhöhten Gehalt an Iminosäuren (Prolin, Hydroxyprolin) und Glycin im Urin aufgrund einer gestörten Rückresorption in der Niere gekennzeichnet ist. Die Erkrankung gilt als benigne und ist nicht mit einem spezifischen klinischen Phänotyp assoziiert. Die Störung wird autosomal-rezessiv vererbt."},"es":{"name":"Iminoglicinuria","definition":"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."},"it":{"name":"Iminoglicinuria","definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato da livelli elevati degli aminoacidi prolina, idrossiprolina e glicina nelle urine, secondari ad anomalie del riassorbimento renale. La malattia è benigna e non si associa a un fenotipo clinico specifico. La trasmissione è autosomica recessiva."},"nl":{"name":"Iminoglycinurie","definition":"Een zeldzaam, aangeboren defect van stofwisseling, gekarakteriseerd door verhoogde gehaltes van iminozuren (proline, hydroxyproline) en glycine in urine als gevolg van gebrekkige reabsorptie in nier. De aandoening wordt als goedaardig beschouwd en is niet geassocieerd met een specifiek klinisch fenotype. Overerving gebeurt autosomaal recessief."},"pt":{"name":"Iminoglicinúria"},"pl":{"name":"Iminoglicynuria"},"cs":{"name":"Iminoglycinurie"},"uk":{"name":"Іміногліцинурія","definition":"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."},"zh":{"name":"亚氨基甘氨酸尿症"},"tr":{"name":"Iminoglisinüri"}},"xrefs":[{"source":"OMIM","code":"242600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"664428532"},{"source":"MONDO","code":"0009448","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536285","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268654","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8424","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308451,"name":"Disorder of neutral amino acid transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC6A18","name":"solute carrier family 6 member 18","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19033659[PMID]","hgnc":"26441","ensembl":"ENSG00000164363","omim":"610300","loci":["5p15.33"]},{"symbol":"SLC6A19","name":"solute carrier family 6 member 19","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19033659[PMID]","hgnc":"27960","ensembl":"ENSG00000174358","omim":"608893","loci":["5p15.33"]},{"symbol":"SLC6A20","name":"solute carrier family 6 member 20","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19033659[PMID]","hgnc":"30927","ensembl":"ENSG00000163817","omim":"605616","loci":["3p21.31"]},{"symbol":"SLC36A2","name":"solute carrier family 36 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19033659[PMID]","hgnc":"18762","ensembl":"ENSG00000186335","omim":"608331","loci":["5q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.67,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.68,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-07","source":"19033659[PMID]_18200002[PMID]_7504361[PMID]","terms":[{"hpo":"HP:0003080","label":"Hydroxyprolinuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003108","label":"Hyperglycinuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003137","label":"Prolinuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003260","label":"Hydroxyprolinemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008358","label":"Hyperprolinemia","frequency":"Excluded (0%)","criteria":null}]}}