{"orpha":90,"name":"Argininemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arginase 1 deficiency","Arginase deficiency","Hyperargininemia"],"definition":"A rare autosomal recessive amino acid metabolism disorder characterized by variable degrees of hyperammonemia leading to progressive loss of developmental milestones and spasticity in the absence of treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90/","orphanet_url":"https://www.orpha.net/en/disease/detail/90","names":{"fr":{"name":"Argininémie","synonyms":["Hyperargininémie","Déficit en arginase","Déficit en arginase 1"],"definition":"Trouble autosomique récessif rare du métabolisme des acides aminés, caractérisé par une hyperammonémie de degré variable entraînant une régression progressive du développement et une spasticité en l'absence de traitement."},"de":{"name":"Argininämie","synonyms":["ArgD","Argininase-1-Mangel","Hyperargininämie"],"definition":"Eine seltene autosomal-rezessive Störung des Aminosäurestoffwechsels mit unterschiedlich ausgeprägter Hyperammonämie, die unbehandelt zu fortschreitendem Verlust von Entwicklungsmeilensteinen und Spastik führt."},"es":{"name":"Argininemia","synonyms":["Deficiencia de arginasa","Deficiencia de arginasa 1","Hiperargininemia"],"definition":"Es un trastorno del metabolismo de los aminoácidos, autosómico recesivo y poco frecuente, caracterizado por grados variables de hiperamonemia que, en ausencia de tratamiento, conduce a una pérdida progresiva de los hitos del desarrollo y a espasticidad."},"it":{"name":"Argininemia","synonyms":["Deficit di arginasi","Iperargininemia"],"definition":"Il deficit di arginasi è un difetto raro del metabolismo degli aminoacidi, ad eredità autosomica recessiva, caratterizzato da iperammoniemia variabile, che si manifesta attorno ai tre anni, e comporta la perdita progressiva delle tappe dello sviluppo psicomotorio e spasticità in assenza di trattamento."},"nl":{"name":"Argininemie","synonyms":["Arginase 1-deficiëntie","Arginasedeficiëntie","Hyperargininemie"],"definition":"Een zeldzame, autosomaal recessieve aandoening van het aminozuurmetabolisme, gekenmerkt door variabele gradaties van hyperammoniëmie, die leidt tot progressief verlies van ontwikkelingsmijlpalen en spasticiteit in afwezigheid van behandeling."},"pt":{"name":"Argininemia","synonyms":["Deficiência de Arginase","Deficiência de Arginase 1","Hiperargininemia"]},"pl":{"name":"Argininemia","synonyms":["Hyperargininemia","Niedobór arginazy"],"definition":"Rzadkie, dziedziczone w sposób autosomalny recesywny zaburzenie metabolizmu aminokwasów, charakteryzujące się hiperamonemią o różnym stopniu nasilenia, co prowadzi do opóźnienia rozwoju oraz spastyczności w przypadku braku leczenia."},"cs":{"name":"Argininémie","synonyms":["Deficit arginázy","Hyperargininemie"]},"uk":{"name":"Аргінінемія","synonyms":["Дефіцит аргінази","Гіпераргінінемія"],"definition":"A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment."},"zh":{"name":"精氨酸血症","synonyms":["精氨酸酶缺乏症"]},"tr":{"name":"Arjininemi","synonyms":["Hiperarjininemi","Arjinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"207800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.A2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1619102598"},{"source":"MONDO","code":"0008814","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268548","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5840","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79167,"name":"Disorder of urea cycle metabolism and ammonia detoxification","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ARG1","name":"arginase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301338[PMID]","hgnc":"663","ensembl":"ENSG00000118520","omim":"608313","loci":["6q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Finland","status":"Validated","source":"18616627[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"United States","status":"Validated","source":"8794176[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2016[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008339","label":"Diaminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}