{"orpha":773,"name":"Adult Refsum disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic Refsum disease","HMSN 4","HMSN IV","Hereditary motor and sensory neuropathy type 4","Hereditary motor and sensory neuropathy type IV","Heredopathia atactica polyneuritiformis","Phytanic-CoA hydroxylase deficiency"],"definition":"A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-773/","orphanet_url":"https://www.orpha.net/en/disease/detail/773","names":{"fr":{"name":"Maladie de Refsum de l'adulte","synonyms":["Déficit en phytanoyl-CoA dioxygénase","Hérédopathie ataxique polynévritique","Maladie de Refsum classique","Neuropathie sensitivo-motrice héréditaire type 4","Neuropathie sensitivo-motrice héréditaire type IV"],"definition":"Maladie métabolique caractérisée par une anosmie, une cataracte, une rétinite pigmentaire à début précoce et d'éventuelles manifestations neurologiques, notamment une neuropathie périphérique et une ataxie cérébelleuse. Les autres caractéristiques peuvent être la surdité, l'ichtyose, les anomalies du squelette et l'arythmie cardiaque. Sur le plan biochimique, elle se caractérise par l'accumulation de l'acide phytanique dans le plasma et les tissus."},"de":{"name":"Refsum-Krankheit","synonyms":["Adulte Refsum-Krankheit","HMSN 4","HMSN IV","Heredopathia atactica polyneuritiformis","Klassische Refsum-Krankheit","Neuropathie, hereditäre motorisch-sensorische, Typ 4","Neuropathie, hereditäre motorisch-sensorische, Typ IV","Phytanoyl-CoA-Hydroxylase-Mangel","Refsum-Syndrom"],"definition":"Eine Stoffwechselerkrankung, die durch Anosmie, Katarakt, früh einsetzende Retinitis pigmentosa und mögliche neurologische Manifestationen wie periphere Neuropathie und zerebelläre Ataxie gekennzeichnet ist. Weitere Merkmale können Taubheit, Ichthyose, Skelettanomalien und Herzrhythmusstörungen sein. Biochemisch ist sie durch eine Anhäufung von Phytansäure im Plasma und in den Geweben gekennzeichnet."},"es":{"name":"Enfermedad de Refsum del adulto","synonyms":["Deficiencia de fitanoil-CoA hidroxilasa","Enfermedad de Refsum clásica","HMSN 4","HMSN IV","Heredopatía atáctica polineuritiforme","Neuropatía hereditaria sensitivo-motora tipo 4","Neuropatía hereditaria sensitivo-motora tipo IV"],"definition":"Es una enfermedad metabólica de inicio temprano caracterizada por anosmia, cataratas, retinosis pigmentaria y posibles manifestaciones neurológicas que incluyen neuropatía periférica y ataxia cerebelosa. Otros hallazgos descritos incluyen la sordera, ictiosis, anomalías esqueléticas y arritmia cardíaca. Está caracterizado bioquímicamente por el acúmulo de ácido fitánico en plasma y tejidos."},"it":{"name":"Malattia di Refsum dell'adulto","synonyms":["HMSN IV","Eredopatia atattica polineuritiforme","HMSN 4","Deficit di fitanil-CoA idrossilasi","Malattia di Refsum classica","Neuropatia motoria e sensoriale ereditaria di tipo 4","Neuropatia motoria e sensoriale ereditaria di tipo IV"],"definition":"È una malattia metabolica caratterizzata da anosmia, cataratta, retinite pigmentosa ad esordio precoce e sintomi neurologici, come la neuropatia periferica e l'atassia cerebellare. Altri segni clinici sono la sordità, l'ittiosi, le anomalie scheletriche e l'aritmia cardiaca. Dal punto di vista biochimico, è caratterizzata dall'accumulo di acido fitanico nel plasma e nei tessuti."},"nl":{"name":"Volwassen vorm van ziekte van Refsum","synonyms":["HMSN IV","Hereditaire motorische en sensorische neuropathie type 4","Hereditaire motorische en sensorische neuropathie type IV","Heredopathia atactica polyneuritiformis","Deficiëntie van fytanoyl-CoA-hydroxylase","Ziekte van Refsum, klassieke vorm","Ziekte van Refsum, volwassen vorm","Klassieke ziekte van Refsum","HMSN 4"],"definition":"Een stofwisselingsziekte gekarakteriseerd door anosmie, cataract, vroeg aanvangende retinitis pigmentosa, en mogelijke neurologische manifestaties, waaronder perifere neuropathie en cerebellaire ataxie. Andere mogelijke kenmerken zijn doofheid, ichthyosis, skeletafwijkingen, en hartritmestoornissen. De ziekte wordt biochemisch gekenmerkt door accumulatie van fytaanzuur in plasma en weefsels."},"pt":{"name":"Doença de Refsum","synonyms":["Deficiência de oxidase do ácido fitânico","Heredopatia atáxica polineuritiforme","Neuropatia motora e sensitiva hereditária tipo 4"]},"pl":{"name":"Choroba Refsuma","synonyms":["Dziedziczna neuropatia ruchowa i czuciowa typu 4","Heredopathia atactica polyneuritiformis","HMSN 4","Niedobór oksydazy kwasu fitanowego"]},"cs":{"name":"Refsumova nemoc","synonyms":["Refsumova choroba, adultní forma","Klasická Refsumova choroba","HMSN 4","Hereditární motorická a senzitivní neuropatie, typ IV","Heredopathia atactica polyneuritiformis","Deficit fytan-CoA hydroxylázy"]},"uk":{"name":"Хвороба Рефсума","synonyms":["Хвороба Рефсума у дорослих","Класична хвороба Рефсума","Спадкова моторна та сенсорна нейропатія типу 4","Спадкова моторна та сенсорна нейропатія IV типу","Heredopathia atactica polyneuritiformis","HMSN 4","HMSN IV","Дефіцит фітан-КоА-гідроксилази"],"definition":"A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues."},"zh":{"name":"Refsum病","synonyms":["遗传性运动和感觉神经病IV型"]},"tr":{"name":"Refsum hastalığı","synonyms":["HMSN 4","HMSN IV","Erişkin Refsum hastalığı","Klasik Refsum hastalığı","Fitanik-KoA hidroksilaz eksikliği","Heredopati ataktika polinüritiformis","Kalıtsal motor ve duyusal nöropati tip 4","Kalıtsal motor ve duyusal nöropati tip IV"]}},"xrefs":[{"source":"OMIM","code":"266500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614879","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1055252392"},{"source":"MONDO","code":"0009958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012035","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0034960","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5691","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]},{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":309810,"name":"Disorder of peroxisomal alpha-, beta- and omega-oxidation","classifications":[150,156,233]},{"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":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PEX7","name":"peroxisomal biogenesis factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301527[PMID]","hgnc":"8860","ensembl":"ENSG00000112357","omim":"601757","loci":["6q23.3"]},{"symbol":"PHYH","name":"phytanoyl-CoA 2-hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301527[PMID]","hgnc":"8940","ensembl":"ENSG00000107537","omim":"602026","loci":["10p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"20301527[PMID]_[EXPERT]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"ISBN 13:9789350901885[OTHER]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}