{"orpha":79101,"name":"Hyperprolinemia type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency"],"definition":"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79101/","orphanet_url":"https://www.orpha.net/en/disease/detail/79101","names":{"fr":{"name":"Hyperprolinémie type 2","synonyms":["Déficit en 1-pyrroline-5-carboxylate déshydrogénase"],"definition":"L'hyperprolinémie type 2 est un trouble du métabolisme de la proline, autosomique récessif, dû à un déficit en 1-pyrroline-5-carboxylate déshydrogénase. La maladie est souvent bénigne, mais les symptômes peuvent inclure des convulsions, une déficience intellectuelle et un retard de développement modéré."},"de":{"name":"Hyperprolinämie Typ 2","synonyms":["Delta-1-Pyrrolin-5-Carboxylat-Dehydrogenase-Mangel","Pyrrolincarboxylsäure-Dehydrogenasemangel"],"definition":"Die Hypoproteinämie Typ 2 ist eine autosomal-rezessiv vererbte Störung des Prolin-Stoffwechsels, verursacht durch einen Mangel der Pyrolin-5-carboxylat-Dehydrogenase. Diese Störung ist oft benigne, mögliche Symptome sind jedoch Krämpfe, intellektuelles Defizit und leicht verzögerte Entwicklung."},"es":{"name":"Hiperprolinemia tipo 2","definition":"La hiperprolinemia tipo 2 es un trastorno autosómico recesivo del metabolismo de la prolina debido a un déficit de pirrolina-5-carboxilato deshidrogenasa. La enfermedad es a menudo benigna pero los signos clínicos pueden incluir convulsiones, déficit intelectual y leve retraso en el desarrollo."},"it":{"name":"Iperprolinemia, tipo 2","synonyms":["Deficit di delta1-pirrolina-5-carbossilato deidrogenasi"],"definition":"L'iperprolinemia tipo 2 è un difetto del metabolismo della prolina, ad eredità autosomica recessiva, dovuto al deficit di pirrolina-5-carbossilato deidrogenasi. La malattia è spesso benigna, anche se occasionalmente i pazienti possono sviluppare convulsioni, deficit cognitivo e lieve ritardo dello sviluppo."},"nl":{"name":"Hyperprolinemie type 2","synonyms":["Deficiëntie van delta-1-pyrroline-5-carboxylaatdehydrogenase"],"definition":"Een autosomaal recessieve stoornis van metabolisme van proline, als gevolg van deficiëntie van pyrroline-5-carboxylaatdehydrogenase. Hyperprolinemie type 2 is vaak goedaardig, maar mogelijke klinische verschijnselen zijn onder meer insulten, intellectuele achterstand, en milde ontwikkelingsachterstand."},"pt":{"name":"Hiperprolinemia tipo II","synonyms":["Deficiência de delta1-pirrolina-5-carboxilato desidrogenase"]},"pl":{"name":"Hiperprolinemia typu 2","synonyms":["Niedobór dehydrogenazy delta 1-pirolino-5-karboksylanu"]},"cs":{"name":"Hyperprolinémie typu II","synonyms":["Deficit delta-1-pyrrolin-5-karboxylát dehydrogenázy"]},"uk":{"name":"Гіперпролінемія, тип 2","synonyms":["Дефіцит дельта-1-піролін-5-карбоксилатдегідрогенази"],"definition":"Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay."},"zh":{"name":"高脯氨酸血症2型","synonyms":["δ-1-吡咯啉-5-羧酸脱氢酶缺乏症"]},"tr":{"name":"Hiperprolinemi tip 2","synonyms":["Delta-1-pirolin-5- karboksilat dehidrogenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"239510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1574091524"},{"source":"MONDO","code":"0009401","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931835","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6710","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":289866,"name":"Disorder of proline metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALDH4A1","name":"aldehyde dehydrogenase 4 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9700195[PMID]","hgnc":"406","ensembl":"ENSG00000159423","omim":"606811","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-28","source":"24173411[PMID]_22516612[PMID]_31884946[PMID]_24931297[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme 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(79-30%)","criteria":null},{"hpo":"HP:0008326","label":"Reduced circulating vitamin B6 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011152","label":"Early onset absence seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Occasional (29-5%)","criteria":null}]}}