{"orpha":46,"name":"Adenylosuccinate lyase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADSL deficiency","Adenylosuccinase deficiency"],"definition":"A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46/","orphanet_url":"https://www.orpha.net/en/disease/detail/46","names":{"fr":{"name":"Déficit en adénylosuccinate lyase","synonyms":["Déficit en ADSL","Déficit en adénylosuccinase"],"definition":"Trouble rare du métabolisme de la purine caractérisé par une déficience intellectuelle, un retard et/ou une régression du développement psychomoteur, des crises d'épilepsie et des signes de l'autisme."},"de":{"name":"Adenylosuccinat-Lyase-Mangel","synonyms":["Adenylosuccinase-Mangel"]},"es":{"name":"Deficiencia de adenilsuccinato liasa","definition":"Es un trastorno del metabolismo de las purinas caracterizado por discapacidad intelectual, retraso y/o regresión psicomotora, convulsiones y rasgos autistas."},"it":{"name":"Deficit di adenilsuccinato liasi","synonyms":["Deficit di adenilsuccinasi"]},"nl":{"name":"Deficiëntie van adenylosuccinaatlyase","synonyms":["ADSL-deficiëntie","Deficiëntie van adenylosuccinase"],"definition":"Een stoornis van het purinemetabolisme, gekarakteriseerd door intellectuele achterstand, psychomotorische achterstand en/of regressie, insulten, en autistische kenmerken."},"pt":{"name":"Deficiência de adenilossuccinato liase","synonyms":["Deficiência de adenilossuccinase"]},"pl":{"name":"Deficyt liazy adenylobursztynianowej","synonyms":["Niedobór adenylosukcynazy","Niedobór ADSL"]},"cs":{"name":"Deficit adenylosukcinátlyázy","synonyms":["Deficit ADSL","Deficit adenylosukcinázy"]},"uk":{"name":"Дефіцит аденілосукцинатліази","synonyms":["Дефіцит аденілосукцинази","Дефіцит ADSL"],"definition":"A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features."},"zh":{"name":"腺苷酸琥珀酸裂解酶缺乏症","synonyms":["腺苷琥珀酸酶缺乏症"]},"tr":{"name":"Adenilosukinat liyaz eksikliği","synonyms":["ADSL eksikliği","Adenilosüksinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"103050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1725611919"},{"source":"MONDO","code":"0007068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268126","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"550","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081681","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADSL","name":"adenylosuccinate lyase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18524658[PMID]","hgnc":"291","ensembl":"ENSG00000239900","omim":"608222","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":56.0,"area":"Worldwide","status":"Validated","source":"18830228[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-20","source":"12070256[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007103","label":"Hypointensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null}]}}