{"orpha":1380,"name":"Cataract-nephropathy-encephalopathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Crome syndrome"],"definition":"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1380/","orphanet_url":"https://www.orpha.net/en/disease/detail/1380","names":{"fr":{"name":"Syndrome de cataracte-néphropathie-encéphalopathie","synonyms":["Syndrome de Crome"],"definition":"Une combinaison létale de manifestations incluant une petite taille, des cataractes congénitales, une encéphalopathie avec des crises d'épilepsie et une néphropathie confirmée post-mortem (nécrose tubulaire rénale). Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1963."},"de":{"name":"Katarakt-Nephropathie-Enzephalopathie-Syndrom","synonyms":["Crome-Syndrom"],"definition":"Eine seltene letale Kombination von Kleinwuchs, angeborener Katarakt, Enzephalopathie mit epileptischen Anfällen und der postmortal bestätigten Diagnose einer Nephropathie (renale tubuläre Nekrose). Seit 1963 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de catarata-nefropatía-encefalopatía","definition":"Es una combinación letal poco frecuente de manifestaciones, que incluyen talla baja, cataratas congénitas, encefalopatía con crisis epilépticas, y confirmación post morten de nefropatía (necrosis tubular renal). No ha habido más casos descritos en la literatura desde 1963."},"it":{"name":"Cataratta - nefropatia - encefalopatia","synonyms":["Sindrome di Crome"],"definition":"La sindrome cataratta-nefropatia-encefalopatia definisce un'associazione letale di segni clinici, che comprendono la bassa statura, la cataratta congenita, l'encefalopatia con attacchi epilettici e la nefropatia (necrosi tubulare renale) confermata post-mortem. Questa associazione è stata descritta in due neonate, figlie di cugini di primo grado. Le neonate sono decedute prima del quarto e dell'ottavo mese, rispettivamente. Gli ultimi casi pubblicati risalgono al 1963."},"nl":{"name":"Cataract - nefropathie - encefalopathie-syndroom","synonyms":["Syndroom van Crome"],"definition":"Een zeldzame letale combinatie van manifestaties, waaronder kleine gestalte, congenitaal cataract, encefalopathie met epileptische aanvallen, en postmortale bevestiging van nefropathie (necrose van niertubulus). Sinds 1963 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de catarata-nefropatia-encefalopatia","synonyms":["Síndrome Crome"]},"pl":{"name":"Zaćma - neuropatia - encefalopatia","synonyms":["Zespół Crome'a"],"definition":"Rzadka śmiertelna kombinacja objawów, która obejmuje niski wzrost, wrodzoną zaćmę, encefalopatię z napadami padaczkowymi i pośmiertne potwierdzoną nefropatię (martwica kanalików nerkowych). Od 1963 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující kataraktu, nefropatii a encefalopatii","synonyms":["Cromeův syndrom"]},"uk":{"name":"Синдром катаракти - нефропатії - енцефалопатії","synonyms":["Синдром Крома"],"definition":"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963."},"zh":{"name":"白内障-肾病-脑病综合征","synonyms":["Crome综合征"]},"tr":{"name":"Katarakt-nefropati-ensefalopati sendromu","synonyms":["Crome sendromu"]}},"xrefs":[{"source":"OMIM","code":"218900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009045","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795914","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1614","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"14065995[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14065995[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null}]}}