{"orpha":1229,"name":"Pseudo-TORCH syndrome type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-TORCH syndrome due to OCLN deficiency","OCLN-related pseudo-TORCH syndrome","BLC-PMG","Band like calcification with simplified gyration and polymicrogyria","Bilateral band-like calcification with polymicrogyria","Microcephaly-intracranial calcification-intellectual disability syndrome","PTORCH1","Pseudo-TORCH syndrome-1"],"definition":"Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1229/","orphanet_url":"https://www.orpha.net/en/disease/detail/1229","names":{"fr":{"name":"Syndrome pseudo-TORCH type 1","synonyms":["Syndrome pseudo-TORCH par déficit en OCLN","BLC-PMG","Calcifications bilatérales en bande associées à une polymicrogyrie","Calcifications en bande associées à une gyration simplifiée et à une polymicrogyrie","PTORCH1","Pseudo-TORCH syndrome-1","Syndrome de microcéphalie-calcifications intracrâniennes-déficience intellectuelle"],"definition":"Le syndrome de pseudo-infection intra-utérine congénitale est caractérisé par la présence, à la naissance, d'une microcéphalie et de calcifications intracrâniennes accompagnées d'un retard neurologique, de convulsions et d'une évolution clinique similaire à celle des patients atteints d'infection intra-utérine par Toxoplasma gondii, Rubéole, Cytomegalovirus, Herpes simplex (également nommé syndrome TORCH, d'après l'acronyme anglais) ou par d'autres agents, malgré des tests négatifs à la présence d'agents infectieux connus."},"de":{"name":"Pseudo-TORCH-Syndrom Typ 1","synonyms":["Pseudo-TORCH-Syndrom, OCLN-assoziiertes","BLC-PMG","Bilaterale band-ähnliche Kalzifizierung mit Polymikrogyrie","Mikrozephalie-intrakranielle Verkalkung-Intelligenzminderung-Syndrom","PTORCH1"],"definition":"Das Kongenitale Intrauterine Infektionsähnliche Syndrom (KIIS) ist bei Geburt gekennzeichnet durch Mikrozephalie, intrakraniale Verkalkungen, neurologische Unreife, Krampfanfälle und einen weiteren klinischen Verlauf, wie er bei Patienten nach intrauteriner Infektion mit Toxoplasma gondii gesehen wird. Trotz wiederholter Tests werden auch andere bekannte infektöse Ursachen, Röteln, Zytomegalievirus oder Herpes simplex (sog. TORCH-Syndrom) immer wieder ausgeschlossen."},"es":{"name":"Síndrome pseudo-TORCH tipo 1","synonyms":["BLC-PMG","Síndrome pseudo-TORCH asociado al gen OCLN","Síndrome pseudo-TORCH por deficiencia de OCLN","Calcificaciones en banda con patrón giral simplificado y polimicrogiria","Calcificación bilateral en bandas con polimicrogiria","PTORCH1","Síndrome de microcefalia-calcificación intracraneal-discapacidad intelectual","Síndrome pseudo-TORCH 1"],"definition":"Es un síndrome caracterizado por la presencia de microcefalia y calcificaciones intracraneales al nacimiento acompañadas de retraso neurológico, crisis epilépticas y un curso clínico similar al observado en pacientes después de una infección intrauterina por <i>Toxoplasma gondii</i>, rubéola, citomegalovirus, herpes simple (conocido como síndrome TORCH), u otros agentes, a pesar de que repetidas pruebas revelan la ausencia de cualquier agente infeccioso conocido."},"it":{"name":"Sindrome pseudo-TORCH tipo 1","synonyms":["BLC-PMG","Calcificazione bilaterale a banda con polimicrogiria","Calcificazione a banda con semplificazione delle circonvoluzioni e polimicrogiria","Sindrome pseudo-TORCH-1","Sindrome pseudo-TORCH correlata a OCLN","Sindrome pseudo-TORCH da deficit di OCLN","Sindrome microcefalia-calcificazione intracranica-disabilità cognitiva","PTORCH1"]},"nl":{"name":"Pseudo-TORCH-syndroom type 1","synonyms":["Pseudo-TORCH-syndroom door OCLN-deficiëntie","OCLN-gerelateerd pseudo-TORCH-syndroom","BLC-PMG","Bandachtige calcificatie met verminderd aantal hersenwindingen en polymicrogyrie","Bilaterale bandachtige calcificatie met polymicrogyrie","Microcefalie - intracraniële calcificatie - intellectuele achterstand-syndroom","PTORCH1","Pseudo-TORCH-syndroom-1"],"definition":"Congenitaal intra-uterien infectieachtig syndroom wordt gekenmerkt door de aanwezigheid van microcefalie en intracraniële calcificaties bij de geboorte, vergezeld van neurologische achterstand, insulten en een klinisch verloop gelijkaardig aan dat van patiënten na intra-uteriene infectie met Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (het zogeheten TORCH-syndroom) of andere agentia, ondanks herhaaldelijke testen die de afwezigheid van enig gekend infectieus agens aantonen."},"pt":{"name":"Síndrome Pseudo-TORCH tipo 1","synonyms":["Síndrome Baraitser-Reardon","Síndrome de microcefalia-calcificação intracraniana-perturbação do desenvolvimento intelectual","BLC-PMG","Calcificação em forma de faixa com girificação simplificada e polimicrogiria","PTORCH1","Calcificação bilateral em bandas com polimicrogíria","Síndrome pseudo-TORCH-1","Síndrome Baraitser-Brett-Piesowicz"],"definition":"A síndrome de pseudo-infecção intrauterina congénita é caracterizada pela presença de microcefalia e calcificações intracranianas ao nascimento, acompanhadas por atraso neurológico, convulsões e um curso clínico semelhante ao visto em doentes após infecção intrauterina por Toxoplasma gondii, ou por outros agentes infecciosos, como rubéola, citomegalovírus ou Herpes simples (chamada síndrome TORCH), apesar de testes repetidos não detectarem qualquer agente infeccioso conhecido."},"pl":{"name":"Zespół pseudo-TORCH typu 1","synonyms":["BLC-PMG","Małogłowie - zwapnienia wewnątrzczaszkowe - niepełnosprawność intelektualna","Obustronne zwapnienia z polimikrogyrią","Zespół Baraitsera i Reardon","Zespół Baraitsera, Bretta i Piesowicza","Zespół pseudo-TORCH"]},"cs":{"name":"Pseudo-TORCH syndrom","synonyms":["Syndrom imitující vrozenou infekci","BLC-PMG","Bilaterální pruhovité kalcifikace s polymikrogyrií","Syndrom zahrnující mikrocefalii, intrakraniální kalcifikace a mentální retardaci","Baraitserův-Brettův-Piesowiczův syndrom","Baraitserův-Reardonův syndrom","Baraitser-Brett-Piesowiczův syndrom","Baraitser-Reardonův syndrom"]},"uk":{"name":"Синдром подібний вродженій внутрішньоутробній інфекції","synonyms":["Синдром Барайзера-Бретта-Песовича","Синдром Барайзера-Рірдона","Двосторонній стрічкоподібний кальциноз з полімікрогірією","BLC-PMG","Синдром мікроцефалії - внутрішньочерепної кальцифікації - інтелектуальної недостатності","Псевдо-TORCH синдром"],"definition":"Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent."},"zh":{"name":"先天性宫内感染样综合征","synonyms":["小头畸形-颅内钙化-智力障碍综合征"]},"tr":{"name":"Doğumsal intrauterin enfeksiyon benzeri sendrom","synonyms":["BLC-PMG","Psedö-TORCH sendromu","Baraitser-Reardon sendromu","Baraitser-Brett-Piesowicz sendromu","Polimikrogri ile seyreden bilateral bant benzeri kireçlenme","Mikrosefali-intrakraniyal kalsifikasyon-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"251290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"780151108"},{"source":"MONDO","code":"0009626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12426","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"OCLN","name":"occludin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20727516[PMID]","hgnc":"8104","ensembl":"ENSG00000197822","omim":"602876","loci":["5q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}