{"orpha":2158,"name":"Histidinuria-renal tubular defect syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2158/","orphanet_url":"https://www.orpha.net/en/disease/detail/2158","names":{"fr":{"name":"Histidinurie rénale","definition":"Trouble rare du métabolisme de l'histidine caractérisé par une histidinurie sans histidinémie due à un déficit d'absorption intestinale et de réabsorption tubulaire rénale de l'histidine. L'association avec un retard de développement, une déficience intellectuelle, des crises d'épilepsie et une légère dysmorphie a été rapportée. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Histidinurie-Nierentubulusdefekt-Syndrom","definition":"Eine seltene Störung des Histidin-Stoffwechsels, die durch eine Histidinurie ohne Histidinämie aufgrund einer gestörten intestinalen und renalen tubulären Absorption von Histidin gekennzeichnet ist. Entwicklungsverzögerung, Intelligenzminderung, Krampfanfälle und leichte dysmorphe Merkmale wurden in Verbindung mit dieser Erkrankung berichtet. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de histidinuria-defecto tubular renal","definition":"Es un trastorno poco frecuente del metabolismo de la histidina caracterizado por histidinuria sin histidinemia debido a una alteración de la absorción tubular intestinal y renal de histidina. Se ha descrito la asociación de retraso del desarrollo, discapacidad intelectual, crisis y rasgos dismórficos leves. No se ha descrito más casos en la literatura desde 1992."},"it":{"name":"Sindrome istidinuria-difetto dei tubuli renali","definition":"Si tratta di una malattia rara del metabolismo dell'istidina, caratterizzata da istidinuria senza istidinemia, causata dalla compromissione dell'assorbimento dell'istidina a livello intestinale e dei tubuli renali. I pazienti presentano ritardo dello sviluppo, disabilità intellettiva, crisi epilettiche e dismorfismi sfumati. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Histidinurie - defect van niertubulus-syndroom","definition":"Een zeldzame aandoening van metabolisme van histidine, gekenmerkt door histidinurie zonder histidinemie door verstoorde intestinale en renale tubulaire absorptie van histidine. Associatie van ontwikkelingsachterstand, intellectuele achterstand, insulten, en milde dysmorfe kenmerken werd reeds gerapporteerd. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de histidinúria-defeito tubular renal","definition":"Doença rara do metabolismo da histidina caracterizado por histidinúria sem histidinemia que ocorre devido à absorção anómala de histidina a nível tubular intestinal e renal. A perturbação do desenvolvimento intelectual, convulsões e determinadas características dismórficas leves foram relatadas em associação. Não existem descrições adicionais na literatura desde 1992."},"pl":{"name":"Histydynuria - wada kanalików nerkowych"},"cs":{"name":"Syndrom zahrnující histidinurii a renální tubulární poškození"},"uk":{"name":"Синдром гістидинурії-канальцевого дефекту нирок","definition":"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992."},"zh":{"name":"组氨酸尿-肾小管缺陷综合征"},"tr":{"name":"Histidinüri-renal tübüler defekt sendromu"}},"xrefs":[{"source":"OMIM","code":"235830","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009346","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268642","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2708","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79181,"name":"Disorder of histidine metabolism","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"1481808[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1481808[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002927","label":"Histidinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008666","label":"Impaired histidine renal tubular absorption","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:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005844","label":"Rounded middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}