{"orpha":909,"name":"Cerebrotendinous xanthomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CTX","Sterol 27-hydroxylase deficiency"],"definition":"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-909/","orphanet_url":"https://www.orpha.net/en/disease/detail/909","names":{"fr":{"name":"Xanthomatose cérébrotendineuse","synonyms":["CTX","Déficit en stérol 27-hydroxylase"],"definition":"La xanthomatose cérébrotendineuse (XCT) est une anomalie de la synthèse des acides biliaires (SAB) caractérisée par une cholestase néonatale, une cataracte à début infantile, des xanthomes tendineux débutant chez l'adolescent ou l'adulte jeune et des xanthomes cérébraux avec manifestations neurologiques chez l'adulte."},"de":{"name":"Xanthomatose, zerebrotendinöse","synonyms":["Sterol-27-Hydroxylase-Mangel"],"definition":"Die Zerebro-tendinöse Xanthomatose (CTX) ist eine Anomalie der Gallensäuren-Synthese und gekennzeichnet durch neonatale Cholestase, im Kindesalter beginnende Katarakt, bei Adoleszenten oder jungen Erwachsenen auftretende tendinöse Xanthome und Xanthome des Hirns mit im Erwachsenenalter einsetzenden neurologischen Funktionsstörungen."},"es":{"name":"Xantomatosis cerebrotendinosa","synonyms":["Deficiencia de esterol 27-hidroxilasa"],"definition":"La xantomatosis cerebrotendinosa (CTX) es una anomalía de la síntesis de ácidos biliares (consulte este término) caracterizada por colestasis neonatal, cataratas de aparición en la infancia, xantomas del tendón de aparición en la adolescencia y en jóvenes, y xantoma del cerebro con disfunción neurológica de aparición en adultos."},"it":{"name":"Xantomatosi cerebrotendinea","synonyms":["Deficit di sterolo 27-idrossilasi"],"definition":"La xantomatosi cerebrotendinea (CTX) è un difetto congenito della sintesi degli acidi biliari con colestasi neonatale, cataratta a esordio infantile, xantomi tendinei a esordio nell'adolescenza/prima età adulta e xantomi cerebrali con disfunzione neurologica a esordio nell'età adulta."},"nl":{"name":"Cerebrotendineuze xanthomatose","synonyms":["CTX","Sterol 27-hydroxylasedeficiëntie"],"definition":"Cerebrotendineuze xanthomatose (CTX) is een afwijking van de galzuursynthese (zie deze term), gekenmerkt door neonatale cholestase, cataract met aanvang tijdens de kindertijd, peesxanthomen vanaf de adolescentie of jongvolwassenheid, en hersenxanthomen met neurologische stoornissen bij volwassenen."},"pt":{"name":"Xantomatose cerebrotendinosa","synonyms":["Deficiência de esterol 27-hidroxilase"]},"pl":{"name":"Ksantomatoza mózgowo-ścięgnista","synonyms":["CTX","Niedobór 27-hydroksylazy sterolowej"],"definition":"Ksantomatoza mózgowo-ścięgnista to anomalia syntezy kwasów żółciowych (sprawdź to hasło) charakteryzująca się cholestazą noworodkową, zaćmą rozpoczynającą się w dzieciństwie, żółtakami ścięgien pojawiającymi się u nastolatków lub młodych dorosłych oraz żółtakami mózgu z dysfunkcjami neurologicznymi ujawniającymi się w wieku dorosłym."},"cs":{"name":"Cerebrotendinózní xantomatóza","synonyms":["CTX","Deficit sterol 27-hydroxylázy"]},"uk":{"name":"Церебротендінозний ксантоматоз","synonyms":["CTX","Дефіцит стерол 27-гідроксилази"],"definition":"Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction."},"zh":{"name":"脑腱性黄瘤病","synonyms":["甾醇27-羟化酶缺乏症"]},"tr":{"name":"Serebrotendinöz ksantomatoz","synonyms":["CTX","Sterol 27-hidroksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"213700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C52.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1556875179"},{"source":"MONDO","code":"0008948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019294","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238052","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5622","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":163631,"name":"Bile acid synthesis defect with cholestasis and malabsorption","classifications":[150,156,183,233]},{"orpha":98544,"name":"Cerebral lipidosis with dementia","classifications":[156,181]},{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":181437,"name":"Rare syndromic dyslipidemia","classifications":[150,156,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":225710,"name":"Sterol metabolism disorder with epilepsy","classifications":[156,181]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"CYP27A1","name":"cytochrome P450 family 27 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301583[PMID]","hgnc":"2605","ensembl":"ENSG00000135929","omim":"606530","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Specific population","status":"Validated","source":"16157755[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.056,"area":"Spain","status":"Validated","source":"21645175[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"United States","status":"Validated","source":"16157755[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-13","source":"20301583[PMID]_33232000[PMID]_28980151[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012896","label":"Abnormal motor evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011931","label":"Abnormality of the cerebellar peduncle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010874","label":"Tendon xanthomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011994","label":"Abnormal atrial septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100321","label":"Abnormality of the dentate nucleus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008516","label":"Abnormality of the vertebral spinous processes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040078","label":"Axonal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012706","label":"Elevated brain choline level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012707","label":"Elevated brain lactate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007922","label":"Hypermyelinated retinal nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002423","label":"Long-tract signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200125","label":"Mitochondrial respiratory chain defects","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012075","label":"Personality disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004416","label":"Precocious atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005181","label":"Premature coronary artery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010530","label":"Palatal myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Very rare (<4-1%)","criteria":null}]}}