{"orpha":163690,"name":"Hypotonia-cystinuria syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HCS"],"definition":"A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163690/","orphanet_url":"https://www.orpha.net/en/disease/detail/163690","names":{"fr":{"name":"Syndrome d'hypotonie-cystinurie","definition":"Trouble génétique rare de l'absorption et du transport des acides aminés caractérisé par une hypotonie à la naissance ainsi qu'un retard de croissance néonatale et infantile (suivi d'une hyperphagie et d'un gain de poids significatif pendant l'adolescence), une cystinurie de type 1, une lithiase rénale, un retard de croissance lié à un déficit en hormone de croissance et une dysmorphie faciale discrète. Les caractéristiques dysmorphiques comprennent principalement la dolichocéphalie et la ptosis. La néphrolithiase se manifeste à des âges variables."},"de":{"name":"Hypotonie-Cystinurie-Syndrom","definition":"Eine seltene, genetisch bedingte Störung der Aminosäurenabsorption und des Aminosäurentransports, gekennzeichnet durch generalisierte Hypotonie bei der Geburt, neonatale/kindliche Gedeihstörung (gefolgt von Hyperphagie und schneller Gewichtszunahme in der späten Kindheit), Zystinurie Typ 1, Nephrolithiasis, Wachstumsretardierung aufgrund von Wachstumshormonmangel und leichte Gesichtsdysmorphien. Zu den dysmorphen Merkmalen gehören hauptsächlich Dolichozephalie und Ptosis. Nephrolithiasis tritt in unterschiedlichen Altersstufen auf."},"es":{"name":"Síndrome de hipotonía-cistinuria","synonyms":["HCS"],"definition":"Es un trastorno de origen genético y poco frecuente de absorción y transporte de aminoácidos, caracterizado por hipotonía generalizada al nacimiento, fallo de medro neonatal/en la lactancia (seguido de hiperfagia y un rápido aumento de peso en la infancia tardía), cistinuria tipo 1, nefrolitiasis, retraso del crecimiento debido a una deficiencia de la hormona del crecimiento, y leve dismorfia facial. Los rasgos dismórficos incluyen principalmente dolicocefalia y ptosis. La nefrolitiasis debuta a una edad variable."},"it":{"name":"Sindrome ipotonia-cistinuria","synonyms":["HCS"]},"nl":{"name":"Hypotonie - cystinurie-syndroom","synonyms":["HCS"],"definition":"Een zeldzame, genetische aandoening van absorptie en transport van aminozuren, gekarakteriseerd door gegeneraliseerde hypotonie geboorte, neonataal/infantiel groeifalen (gevolgd door hyperfagie en snelle gewichtstoename in de late kindertijd), cystinurie type 1, nefrolithiasis, groeiretardatie door deficiëntie van groeihormoon, en lichte faciale dysmorfie. Dysmorfe kenmerken omvatten voornamelijk dolichocefalie en ptose. Nefrolithiasis komt voor op verschillende leeftijden."},"pt":{"name":"Síndrome hipotonia - cistinúria","definition":"O síndrome hipotonia-cistinúria (HCS) é um síndrome raro que inclui hipotonia neonatal e infantil e atraso de crescimento, cistinúria tipo 1 e nefrolitíase, atraso do crescimento devido a deficiência da hormona de crescimento e dismorfia facial minor."},"pl":{"name":"Zespół hipotonia - cystynuria","synonyms":["HCS"]},"cs":{"name":"Syndrom zahrnující hypotonii a cystinurii","synonyms":["HCS"]},"uk":{"name":"Синдром гіпотонії-цистинурії","synonyms":["HCS"],"definition":"A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages."},"zh":{"name":"肌张力低下-胱氨酸尿症综合征","synonyms":["HCS"],"definition":"一种罕见的遗传性氨基酸吸收和运输障碍，其特征是出生时全身性肌张力低下，新生儿/婴儿体重增长不良(随后在儿童后期出现饮食过多和体重迅速增加)，1型胱氨酸尿症，肾结石，生长激素缺乏所致生长迟缓，以及轻度面部畸形。畸形特征主要包括长头畸形和眼睑下垂。肾结石发生于不同年龄。"},"tr":{"name":"Hipotoni-sistinüri sendromu","synonyms":["HCS"]}},"xrefs":[{"source":"OMIM","code":"606407","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1742079513"},{"source":"MONDO","code":"0011669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848030","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083099","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":"PREPL","name":"prolyl endopeptidase like","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16385448[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":"16385448[PMID]","hgnc":"11025","ensembl":"ENSG00000138079","omim":"104614","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"23794250[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003131","label":"Cystinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null}]}}