{"orpha":438178,"name":"Fatty acyl-CoA reductase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FAR1 deficiency","PFCRD","Peroxisomal fatty acyl-CoA reductase 1 disorder"],"definition":"A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438178/","orphanet_url":"https://www.orpha.net/en/disease/detail/438178","names":{"fr":{"name":"Déficit en acyl-CoA réductase 1","synonyms":["Déficit en FAR1","Maladie peroxysomale par déficit en acyl-CoA réductase 1"],"definition":"Anomalie de la biosynthèse des plasmalogènes caractérisée par une déficience intellectuelle syndromique sévère avec des cataractes congénitales, une épilepsie à début précoce, une microcéphalie, un retard global du développement, un retard de croissance et une petite taille, ainsi qu'une quadriparésie spastique. Une dysmorphie faciale peut être présente, notamment des sourcils très arqués, un pont nasal aplati, un hypertélorisme et un philtrum lisse et long. La rhizomélie ne fait pas partie du syndrome. Une atrophie cérébelleuse, des anomalies de la substance blanche et une malformation de Dandy-Walker ont été décrites à l'IRM."},"de":{"name":"Fettsäure Acyl-CoA-Reduktase 1-Mangel","synonyms":["FAR1-Defizienz","FAR1-Mangel","PFCRD","Peroxisomale Fettsäure Acyl-CoA-Reduktase 1-Krankheit"],"definition":"Eine seltene Störung der Plasmalogenbiosynthese, die sich als syndromale Form der Intelligenzminderung mit kongenitalem Katarakt, frühkindlicher Epilepsie, Mikrozephalie, globaler Entwicklungsverzögerung, Wachstumsretardierung und Kleinwuchs sowie spastischer Quadriparese manifestiert. Gesichtsdysmorphien wie hochgezogene Augenbrauen, abgeflachte Nasenwurzel, Hypertelorismus und langes, glattes Philtrum können auftreten. Eine Rhizomelie ist nicht Bestandteil des Syndroms. In der zerebralen Bildgebung wurden zerebelläre Atrophie, Anomalien der weißen Substanz und Dandy-Walker-Fehlbildungen beschrieben."},"es":{"name":"Deficiencia de la Acil-CoA reductasa 1 de ácidos grasos","synonyms":["Deficiencia del gen FAR1","PFCRD","Trastorno de acil-CoA reductasa 1 de ácidos grasos peroxisomal"],"definition":"Es un trastorno poco frecuente de la biosíntesis de plasmalógenos que se caracteriza por discapacidad intelectual sindrómica grave con cataratas congénitas, epilepsia de inicio temprano, microcefalia, retraso global del desarrollo psicomotor, retraso del crecimiento y talla baja, y cuadriparesia espástica. Algunos pacientes pueden presentar rasgos faciales dismórficos, que incluyen cejas muy arqueadas, raíz nasal aplanada, hipertelorismo y surco nasolabial largo y liso. La rizomelia no forma parte del síndrome. También se han descrito atrofia cerebelosa, anomalías de la sustancia blanca y la malformación de Dandy-Walker en imágenes cerebrales."},"it":{"name":"Deficit di acil-CoA reduttasi 1 grassa","synonyms":["Deficit di FAR1","Malattia perossisomiale da deficit di acil-CoA reduttasi 1 grassa","PFCRD","Sindrome disabilità cognitiva grave-epilessia-cataratta, da deficit di FAR1","Sindrome disabilità cognitiva grave-epilessia-cataratta, da deficit perossisomiale"],"definition":"Si tratta di una malattia rara della biosintesi dei plasmalogeni, caratterizzata dalla disabilità intellettiva sindromica grave associata alla cataratta congenita, all'epilessia ad esordio precoce, alla microcefalia, al ritardo dello sviluppo globale, al ritardo della crescita, alla bassa statura e alla tetraparesi spastica. I pazienti possono presentare dismorfismi facciali, comprese le sopracciglia arcuate, l'appiattimento della radice del naso, l'ipertelorismo e il filtro allungato e liscio. Non si associa alla rizomelia. Le neuroimmagini mostrano atrofia cerebellare, anomalie della sostanza bianca e la malformazione di Dandy-Walker."},"nl":{"name":"Deficiëntie van vetzuur-acyl-CoA-reductase 1","synonyms":["FAR1-deficiëntie","PFCRD","Stoornis van peroxisomaal vetzuur-acyl-CoA-reductase 1"],"definition":"Een zeldzame aandoening van biosynthese van plasmalogeen, gekarakteriseerd door syndromale ernstige intellectuele achterstand met congenitaal cataract, vroeg aanvangende epilepsie, microcefalie, algehele ontwikkelingsachterstand, groeiretardatie en kleine gestalte, alsook spastische quadriparese. Dysmorfe gelaatskenmerken kunnen ook aanwezig zijn, waaronder hoog gebogen wenkbrauwen, platte neuswortel, hypertelorisme, en lang en glad filtrum. Rhizomelie maakt geen deel uit van het syndroom. Cerebellaire atrofie, afwijkingen van witte stof, en Dandy-Walker malformatie werden beschreven bij beeldvorming van hersenen."},"pt":{"name":"Deficiência de acil-CoA redutase 1 dos ácidos gordos","synonyms":["Deficiência FAR-1"]},"pl":{"name":"Niedobór reduktazy 1 acetylo-CoA kwasów tłuszczowych","synonyms":["Zespół ciężkiej niepełnosprawności intelektualnej, padaczki i zaćmy spowodowany niedoborem FAR1","Zespół ciężkiej niepełnosprawności intelektualnej, padaczki i zaćmy spowodowany zaburzeniami peroksysomalnymi"]},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, epilepsii a kataraktu, způsobený deficitem acyl-CoA reduktázy 1 mastných kyselin","synonyms":["Syndrom zahrnující těžké mentální postižení, epilepsii a kataraktu, způsobený deficitem FAR1","Syndrom zahrnující těžké mentální postižení, epilepsii a kataraktu, způsobený peroxisomální poruchou"]},"uk":{"name":"Дефіцит жирної ацил-КоА-редуктази 1","synonyms":["Дефіцит FAR1","Порушення пероксисомної жирної ацил-КоА-редуктази 1","PFCRD"],"definition":"A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging."},"zh":{"name":"脂酰基辅酶A还原酶1缺乏症","synonyms":["FAR1缺乏"],"definition":"一种罕见的缩醛磷脂生物合成障碍疾病，其特征是严重的智力障碍，先天性白内障，先天性癫痫，小头畸形，严重发育迟缓，生长迟缓和矮小，以及痉挛性四肢瘫痪。可能存在面部畸形包括高弓形的眉毛，扁平的鼻根，器官间距过远以及长而光滑的人中。肢根异常不是该综合征的一部分。脑成像可发现小脑萎缩，白质异常和丹迪·沃克畸形。"},"tr":{"name":"Yağlı açil-CoA redüktaz 1 eksikliği","synonyms":["FAR1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"616154","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C57.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":3276,"name":"Disorder of plasmalogens biosynthesis","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FAR1","name":"fatty acyl-CoA reductase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25439727[PMID]","hgnc":"26222","ensembl":"ENSG00000197601","omim":"616107","loci":["11p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25439727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25439727[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-05","source":"25439727[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}