{"orpha":238523,"name":"Atypical hypotonia-cystinuria syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical HCS"],"definition":"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238523/","orphanet_url":"https://www.orpha.net/en/disease/detail/238523","names":{"fr":{"name":"Syndrome d'hypotonie-cystinurie atypique","synonyms":["HCS atypique"],"definition":"Forme de syndrome d'hypotonie-cystinurie type 1 caractérisée par une déficience intellectuelle légère à modérée en plus du phénotype classique du syndrome d'hypotonie-cystinurie (cystinurie type 1, hypotonie généralisée, difficultés à s'alimenter, retard de croissance et dysmorphie faciale mineure)."},"de":{"name":"Atypische Hypotonie-Cystinurie-Syndrom","synonyms":["HCS, atypisch"]},"es":{"name":"Síndrome de hipotonía-cistinuria atípico","synonyms":["HCS atípico"],"definition":"Es una forma del síndrome de hipotonía-cistinuria tipo 1 caracterizada por discapacidad intelectual de leve a moderada asociada al fenotipo clásico del síndrome de hipotonía - cistinuria (cistinuria tipo 1, hipotonía generalizada, problemas de alimentación, retraso del crecimiento y dismorfia facial menor)."},"it":{"name":"Sindrome ipotomia e cistinuria atipica","synonyms":["HCS atipica"],"definition":"La sindrome atipica ipotonia-cistinuria è una forma di ipotonia-cistinuria tipo 1, caratterizzata da disabilità intellettiva lieve-moderata oltre al quadro clinico della sindrome ipotonia-cistinuria classica (cistinuria tipo 1, ipotonia generalizzata, difficoltà di alimentazione, ritardo della crescita e dismorfismi facciali sfumati)."},"nl":{"name":"Atypisch hypotonie - cystinurie-syndroom","synonyms":["Atypisch HCS"],"definition":"Een vorm van hypotonie - cystinurie-syndroom type 1, gekarakteriseerd door milde tot matige intellectuele achterstand, bovenop het klassieke fenotype van hypotonie - cystinurie-syndroom (cystinurie type 1, gegeneraliseerde hypotonie, voedingsproblemen, groeiretardatie, en geringe faciale dysmorfie)."},"pt":{"name":"Hipotonia atípica - síndrome de cistinúria"},"pl":{"name":"Atypowy zespół hipotonia - cystynuria","synonyms":["Atypowy HCS"],"definition":"*Atypowy zespół hipotonia - cystynuria jest jedną z postaci zespołu hipotonii i cystynurii typu 1; charakteryzuje się lekką do umiarkowanej niepełnosprawnością intelektualną, z towarzyszącym klasycznym fenotypem zespołu hipotonii i cystynurii (cystynuria typu 1, uogólniona hipotonia, zaburzenia odżywiania, zahamowanie wzrastania i subtelna dysmorfia twarzy)."},"cs":{"name":"Atypický syndrom hypotonie a cystinurie","synonyms":["Atypický HCS"]},"uk":{"name":"Синдром атипової гіпотонії-цистинурії","synonyms":["Атиповий HCS"],"definition":"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)."},"zh":{"name":"非典型肌张力低下-胱氨酸尿症综合征","synonyms":["非典型HCS"],"definition":"肌张力低下-胱氨酸尿症综合征1型的一种类型，除了典型的肌张力低下-胱氨酸尿症综合征表型（胱氨酸尿症1型、全身性低血压、喂养困难、生长迟缓和轻度面部畸形）之外，还具有轻度至中度智力残疾的特点。"},"tr":{"name":"Atipik hipotoni-sistinüri sendromu","synonyms":["Atipik HCS"]}},"xrefs":[{"source":"OMIM","code":"606407","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1982772708"},{"source":"MONDO","code":"0016539","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":238517,"name":"Hypotonia-cystinuria type 1 syndrome","classifications":[147,150,156,188,233]}],"children":[],"genes":[{"symbol":"CAMKMT","name":"calmodulin-lysine N-methyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18234729[PMID]","hgnc":"26276","ensembl":"ENSG00000143919","omim":"609559","loci":["2p21"]},{"symbol":"PREPL","name":"prolyl endopeptidase like","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18234729[PMID]","hgnc":"30228","ensembl":"ENSG00000138078","omim":"609557","loci":["2p21"]},{"symbol":"SLC3A1","name":"solute carrier family 3 member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18234729[PMID]","hgnc":"11025","ensembl":"ENSG00000138079","omim":"104614","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"18234729[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18234729[PMID]"}],"phenotypes":null}