{"orpha":88628,"name":"Posterior column ataxia-retinitis pigmentosa syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive posterior column ataxia and retinitis pigmentosa","PCARP"],"definition":"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88628/","orphanet_url":"https://www.orpha.net/en/disease/detail/88628","names":{"fr":{"name":"Syndrome d'ataxie du cordon postérieur-rétinite pigmentaire","synonyms":["PCARP","Syndrome d'ataxie du cordon postérieur-rétinite pigmentaire autosomique récessive"],"definition":"L'ataxie du cordon postérieur - rétinite pigmentaire se caractérise par une ataxie sensorielle progressive et une rétinite pigmentaire."},"de":{"name":"Hinterstrangataxie - Retinitis pigmentosa","synonyms":["Hinterstrangataxie und Retinitis pigmentosa, autosomal-rezessive Form","PCARP"],"definition":"Hinterstrangataxie - Retinitis pigmentosa ist gekennzeichnet durch die Assoziation von progredienter sensorischer Ataxie und Retinitis pigmentosa."},"es":{"name":"Síndrome de ataxia de columna posterior-retinosis pigmentaria","synonyms":["Enfermedad de astas posteriores, ataxia y retinosis pigmentaria, autosómica recesiva"],"definition":"La ataxia de columna posterior-retinitis pigmentosa se caracteriza por la asociación de una ataxia sensorial progresiva y una retinitis pigmentosa."},"it":{"name":"Atassia del cordone posteriore - retinite pigmentosa","synonyms":["Atassia del cordone posteriore - retinite pigmentosa, autosomica recessiva","PCARP"],"definition":"L'atassia del cordone posteriore-retinite pigmentosa è caratterizzata dall'associazione tra atassia sensitiva progressiva e retinite pigmentosa."},"nl":{"name":"Achterstrengataxie - retinitis pigmentosa-syndroom","synonyms":["Autosomaal recessieve achterstrengataxie en retinitis pigmentosa","PCARP"],"definition":"Achterstrengataxie - retinitis pigmentosa wordt gekarakteriseerd door de associatie van progressieve sensorische ataxie en retinitis pigmentosa."},"pt":{"name":"Síndrome de ataxia cordonal posterior-retinite pigmentosa","definition":"A ataxia da coluna posterior-retinite pigmentosa caracteriza-se pela associação de ataxia sensorial progressiva e retinite pigmentosa."},"pl":{"name":"Ataksja słupa tylnego - zwyrodnienie barwnikowe siatkówki","synonyms":["Autosomalna recesywna ataksja słupa tylnego i zwyrodnienie barwnikowe siatkówki","PCARP"]},"cs":{"name":"Syndrom zahrnující ataxii zadních provazců a retinitis pigmentosa","synonyms":["PCARP","Autozomálně recesivní ataxie zadních provazců a retinitis pigmentosa"]},"uk":{"name":"Синдром атаксії заднього стовпа-пігментного ретініту","synonyms":["Аутосомно-рецесивна атаксія заднього стовпчика та пігментний ретиніт","PCARP"],"definition":"Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa."},"zh":{"name":"后柱性共济失调-视网膜色素变性综合征","synonyms":["常染色体隐性遗传性后柱性共济失调-色素性视网膜炎"]},"tr":{"name":"Arka kolon ataksi-retinitis pigmentosa sendromu","synonyms":["PCARP","Otozomal çekinik posterior kolon ataksisi ve retinitis pigmentosa"]}},"xrefs":[{"source":"OMIM","code":"609033","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98098,"name":"Autosomal recessive degenerative and progressive cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FLVCR1","name":"FLVCR choline and heme transporter 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21267618[PMID]_20301317[PMID]","hgnc":"24682","ensembl":"ENSG00000162769","omim":"609144","loci":["1q32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2018-05-18","source":"21070897[PMID]_21267618[PMID]_24628582[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045010","label":"Abnormality of peripheral nerves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040078","label":"Axonal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007737","label":"Bone spicule pigmentation of the retina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040132","label":"Abnormal sensory nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030147","label":"Truncal titubation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Very rare (<4-1%)","criteria":null}]}}