{"orpha":282166,"name":"Inherited Creutzfeldt-Jakob disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Inherited CJD"],"definition":"A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-282166/","orphanet_url":"https://www.orpha.net/en/disease/detail/282166","names":{"fr":{"name":"Maladie de Creutzfeldt-Jakob héréditaire","definition":"Forme rare de maladie à prion génétique caractérisée par les symptômes typiques de la MCJ (démence à progression rapide, changements de personnalité/comportement, troubles psychiatriques, myoclonie et ataxie) de cause génétique, parfois associée à des antécédents familiaux de démence."},"de":{"name":"Creutzfeldt-Jakob-Krankheit, hereditäre","synonyms":["CJD, hereditär"],"definition":"Eine seltene Form einer Prionkrankheit, die durch typische CJD-Merkmale (schnell fortschreitende Demenz, Persönlichkeits-/Verhaltensänderungen, psychiatrische Störungen, Myoklonus und Ataxie) gekennzeichnet ist und eine genetische Ursache hat."},"es":{"name":"Enfermedad de Creutzfeldt-Jakob hereditaria","synonyms":["ECJ familiar","ECJ hereditaria"],"definition":"Es una forma muy poco frecuente de enfermedad priónica genética caracterizada por las manifestaciones típicas de la CJD (demencia de progresión rápida, cambios de personalidad / conducta, trastornos psiquiátricos, mioclonos y ataxia) con una causa genética y, en ocasiones, una historia familiar de demencia."},"it":{"name":"Malattia ereditaria di Creutzfeldt-Jakob","synonyms":["CJD ereditaria"],"definition":"La malattia ereditaria di Creutzfeldt-Jakob (fCJD) è una forma molto rara di malattia da prioni (si veda questo termine) di origine genetica. È caratterizzata dai segni clinici caratteristici della CJD (demenza a progressione rapida, cambiamenti della personalità/comportamento, malattia psichiatrica, mioclono e atassia) di origine genetica associati, talvolta, ad una storia familiare di demenza."},"nl":{"name":"Overgeërfde ziekte van Creutzfeldt-Jakob","synonyms":["Overgeërfde CJD"],"definition":"Een zeldzame vorm van genetische prionziekte, gekenmerkt door typische kenmerken van ziekte van Creutzfeldt-Jakob (snel progressieve dementie, persoonlijkheids-/gedragsveranderingen, psychiatrische aandoeningen, myoclonus en ataxie) met een genetische oorzaak en soms een familiegeschiedenis van dementie."},"pt":{"name":"Doença de Creutzfeldt-Jakob hereditária","synonyms":["CJD hereditária"]},"pl":{"name":"Dziedziczna choroba Creutzfeldta i Jakoba","synonyms":["Dziedziczna CJD"]},"cs":{"name":"Dědičná Creutzfeldtova-Jakobova nemoc","synonyms":["Vrozená CJD","Dědičná Creutzfeldt-Jakobova nemoc"]},"uk":{"name":"Спадкова хвороба Крейтцфельдта-Якоба","synonyms":["Успадкована CJD"],"definition":"A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia."},"zh":{"name":"遗传性Creutzfeldt-Jakob病","synonyms":["遗传性CJD"],"definition":"遗传性或家族性Creutzfeldt-Jakob病（fCJD）是一种非常罕见的遗传朊病毒病（见本术语），其特征是典型的CJD特征（快速进展性痴呆、人格/行为改变、精神障碍、肌阵挛和共济失调），具有遗传病因，有时有痴呆家族史。"},"tr":{"name":"Kalıtsal Creutzfeldt-Jakob hastalığı","synonyms":["Kalıtsal CJD"]}},"xrefs":[{"source":"OMIM","code":"123400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"A81.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8E02.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"607607042"},{"source":"MONDO","code":"0007403","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751254","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280400,"name":"Inherited human prion disease","classifications":[156,181]},{"orpha":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"PRNP","name":"prion protein (Kanno blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10790216[PMID]_20301407[PMID]","hgnc":"9449","ensembl":"ENSG00000171867","omim":"176640","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-27","source":"14088252[PMID]_3094007[PMID]_1677164[PMID]_1675319[PMID]_14522862[PMID]_10360778[PMID]_12197632[PMID]_9279329[PMID]_1469441[PMID]_16301504[PMID]_16682677[PMID]_15314808[PMID]_16434680[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012672","label":"Akinetic mutism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007009","label":"Central nervous system degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006943","label":"Diffuse spongiform leukoencephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010846","label":"EEG with persistent abnormal rhythmic activity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005327","label":"Loss of facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025152","label":"Poor visual behavior for age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007017","label":"Progressive forgetfulness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100256","label":"Senile plaques","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011099","label":"Spastic hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007686","label":"Abnormal pupillary function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100292","label":"Amyloidosis of peripheral nerves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010542","label":"Vestibular nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}