{"orpha":33574,"name":"Glutamate-cysteine ligase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gamma-glutamylcysteine synthetase deficiency"],"definition":"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33574/","orphanet_url":"https://www.orpha.net/en/disease/detail/33574","names":{"fr":{"name":"Déficit en glutamate-cystéine ligase","synonyms":["Déficit en gamma-glutamylcystéine synthétase"],"definition":"Le déficit en gamma-glutamylcystéine synthétase est caractérisé par une anémie hémolytique, généralement légère ; cependant, des symptômes neurologiques ont aussi été rapportés."},"de":{"name":"Glutamat-Cystein-Ligase-Mangel","synonyms":["Gamma-Glutamyl-Cystein-Synthetase-Mangel"]},"es":{"name":"Deficiencia de glutamato-cisteína ligasa","synonyms":["Deficiencia de gamma-glutamilcisteína sintetasa"],"definition":"Es un trastorno caracterizado principalmente por la presencia de anemia hemolítica (por lo general bastante leve), aunque también se han detectado síntomas neurológicos"},"it":{"name":"Deficit di gamma-glutamilcisteina sintetasi","synonyms":["Deficit di glutammato-cisteina ligasi"]},"nl":{"name":"Deficiëntie van glutamaat-cysteïneligase","synonyms":["Deficiëntie van gamma-glutamylcysteïne-synthetase"],"definition":"Een aandoening, voornamelijk gekenmerkt door hemolytische anemie (meestal eerder mild), hoewel aanwezigheid van neurologische symptomen ook reeds werd gerapporteerd."},"pt":{"name":"Deficiência de gama-glutamilcisteína sintetase","synonyms":["Deficiência de glutamato-cisteína ligase"],"definition":"Doença caracterizada principalmente por anemia hemolítica (geralmente ligeira), embora também tenha sido relatada a presença de sintomas neurológicos."},"pl":{"name":"Niedobór syntetazy gamma-glutamylocysteiny","synonyms":["Nidobór ligazy glutaminy i cysteiny"]},"cs":{"name":"Deficit gamma-glutamylcysteinsyntetázy","synonyms":["Deficit glutamát-cystein ligázy"]},"uk":{"name":"Дефіцит глутамат-цистеїнової лігази","synonyms":["Дефіцит гамма-глутамілцистеїнсинтетази"],"definition":"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported."},"zh":{"name":"谷氨酸-半胱氨酸连接酶缺乏","synonyms":["γ-谷氧酰半胱氨酸合成酶缺乏症"]},"tr":{"name":"Glutamat-sistein ligaz eksikliği","synonyms":["Gama-glutamilsistein sentetaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1317802710"},{"source":"MONDO","code":"0009259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268523","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":79196,"name":"Disorder of the gamma-glutamyl cycle","classifications":[150,156]},{"orpha":98370,"name":"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies","classifications":[156,194]}],"children":[],"genes":[{"symbol":"GCLC","name":"glutamate-cysteine ligase catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10515893[PMID]_18024385[PMID]","hgnc":"4311","ensembl":"ENSG00000001084","omim":"606857","loci":["6p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"18024385[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18024385[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-01","source":"17397529[PMID]","terms":[{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Occasional (29-5%)","criteria":null}]}}