{"orpha":481665,"name":"Pseudo-TORCH syndrome type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-TORCH syndrome due to USP18 deficiency","USP18-related pseudo-TORCH syndrome","PTORCH2","Pseudo-TORCH syndrome-2"],"definition":"A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-481665/","orphanet_url":"https://www.orpha.net/en/disease/detail/481665","names":{"fr":{"name":"Syndrome pseudo-TORCH type 2","synonyms":["Syndrome pseudo-TORCH par déficit en USP18","PTORCH2","Pseudo-TORCH syndrome-2"],"definition":"Maladie neurologique génétique rare caractérisée par un syndrome pseudo-TORCH sévère avec des signes cliniques de lésions cérébrales et parfois des symptômes de maladies systémiques ressemblant aux séquelles d'une infection congénitale, en l'absence d'agent infectieux. Les signes cliniques caractéristiques sont, entre autres, une microcéphalie, une maladie de la substance blanche, une atrophie cérébrale, une hémorragie cérébrale et des calcifications. Les personnes atteintes présentent généralement des crises convulsives et une insuffisance respiratoire. Le décès survient durant l'enfance."},"de":{"name":"Pseudo-Torch-Syndrom Typ 2","synonyms":["PTORCH2","USP18-Mangel","USP18-Defizienz","Pseudo-TORCH-Syndrom durch USP18-Mangel"],"definition":"Eine seltene genetisch bedingte neurologische Erkrankung, die durch ein schweres Pseudo-TORCH-Syndrom mit Anzeichen einer Hirnschädigung und gelegentlich systemischen Manifestationen gekennzeichnet ist, die den Folgen einer angeborenen Infektion ähneln, jedoch in Abwesenheit eines Infektionserregers. Charakteristische Merkmale sind u.a. Mikrozephalie, Erkrankung der weißen Substanz, Hirnatrophie, Hirnblutung und Verkalkungen. Die Betroffenen erleiden typischerweise Krampfanfälle und respiratorische Insuffizienz und sterben im Säuglingsalter."},"es":{"name":"Síndrome pseudo-TORCH tipo 2","synonyms":["Síndrome pseudo-TORCH por deficiencia de USP18","Síndrome pseudo-TORCH asociado al gen USP18","PTORCH2","Síndrome pseudo-TORCH 2"],"definition":"Es un trastorno neurológico de origen genético poco frecuente caracterizado por un síndrome pseudo-TORCH grave con signos de daño cerebral y, ocasionalmente, con manifestaciones sistémicas similares a las secuelas de una infección congénita, aunque en ausencia de un agente infeccioso. Los hallazgos característicos incluyen microcefalia, enfermedad de la sustancia blanca, atrofia cerebral, hemorragia cerebral y calcificaciones, entre otros. Los individuos afectados suelen experimentar crisis epilépticas e insuficiencia respiratoria, falleciendo en la infancia."},"it":{"name":"Sindrome pseudo-TORCH tipo 2","synonyms":["PTORCH2","Sindrome pseudo-TORCH-2","Sindrome pseudo-TORCH correlata a USP18","Sindrome pseudo-TORCH da deficit di USP18"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da una sindrome pseudo-TORCH grave, associata ai sintomi del danno cerebrale e, occasionalmente, a sintomi sistemici che ricordano le sequele di un'infezione congenita, in assenza di un agente infettivo. I segni clinici caratteristici comprendono la microcefalia, la malattia della sostanza bianca, l'atrofia cerebrale, l'emorragia cerebrale e le calcificazioni. Di solito i pazienti presentano crisi epilettiche e insufficienza respiratoria e muoiono nella prima infanzia."},"nl":{"name":"Pseudo-TORCH-syndroom type 2","synonyms":["USP18-gerelateerd pseudo-TORCH-syndroom","PTORCH2","Pseudo-TORCH-syndroom-2","Pseudo-TORCH-syndroom door USP18-deficiëntie"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door ernstig pseudo-TORCH-syndroom met tekenen van hersenschade en occasioneel systemische manifestaties gelijkaardig aan restverschijnselen van congenitale infectie, maar in afwezigheid van een infectieus agens. Typische kenmerken zijn onder meer microcefalie, wittestofziekte, cerebrale atrofie, hersenbloeding, en calcificaties. Getroffen individuen lijden doorgaans aan insulten en respiratoire insufficiëntie, en sterven in de zuigelingentijd."},"pt":{"name":"Défice de UPS18"},"pl":{"name":"Zespół pseudo-TORCH typu 2","synonyms":["Pseudo-TORCH syndrome due to USP18 deficiency","USP18-related pseudo-TORCH syndrome","PTORCH2","Pseudo-TORCH syndrome-2"]},"cs":{"name":"USP18 deficit","synonyms":["Pseudo-TORCH syndrome due to USP18 deficiency","USP18-related pseudo-TORCH syndrome","PTORCH2","Pseudo-TORCH syndrome-2"]},"uk":{"name":"Дефіцит USP18","definition":"A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy."},"zh":{"name":"USP18缺乏症","definition":"一种罕见的遗传性神经系统疾病，以严重的假性TORCH综合征为特征，有脑损伤的症状，偶尔也有类似先天性感染后遗症的全身表现，但没有传染源。特异性特征包括小头畸形、白质病、脑萎缩、脑出血和钙化等。受影响的人通常有癫痫发作和呼吸功能不全，并在婴儿期死亡。"},"tr":{"name":"USP18 eksikliği"}},"xrefs":[{"source":"OMIM","code":"617397","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4479376","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102005,"name":"Brain inflammatory disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"USP18","name":"ubiquitin specific peptidase 18","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27325888[PMID]_27821552[PMID]","hgnc":"12616","ensembl":"ENSG00000184979","omim":"607057","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"27821552[PMID]_2732588[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27821552[PMID]_2732588[PMID]"}],"phenotypes":null}