{"orpha":395,"name":"Homocystinuria due to methylene tetrahydrofolate reductase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MTHFR deficiency","Methylene tetrahydrofolate reductase deficiency"],"definition":"Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-395/","orphanet_url":"https://www.orpha.net/en/disease/detail/395","names":{"fr":{"name":"Homocystinurie par déficit en méthylène tétrahydrofolate réductase","synonyms":["Déficit en MTHFR","Déficit en méthylène tétrahydrofolate réductase"],"definition":"L'homocystinurie par déficit en méthylènetétrahydrofolate réductase (MTHFR) est une maladie métabolique caractérisée par une atteinte neurologique."},"de":{"name":"Homocystinurie durch Methylen-Tetrahydrofolat-Reduktase-Mangel","synonyms":["Hyperhomocysteinämie durch MTHFR-Mangel","MTHFR-Mangel","Methylen-Tetrahydrofolat-Reduktase-Mangel"],"definition":"Die Homozystinurie mit Methylen-Tetrahydrofolat-Reduktase (MTHFR)-Mangel ist eine neurometabolische Erkrankung."},"es":{"name":"Homocistinuria por deficiencia de metilentetrahidrofolato reductasa","definition":"La homocistinuria por deficiencia de metilentetrahidrofolato reductasa (MTHFR) es una enfermedad metabólica caracterizada por una afectación neurológica."},"it":{"name":"Omocistinuria da deficit di metilene-tetraidrofolato reduttasi","synonyms":["Deficit di MTHFR","Deficit di metilene-tetraidrofolato reduttasi"]},"nl":{"name":"Homocystinurie als gevolg van methyleentetrahydrofolaat reductasedeficiëntie","synonyms":["Homocystinurie als gevolg van MTHFR-deficiëntie","MTHFR-deficiëntie","Methyleentetrahydrofolaat reductasedeficiëntie"],"definition":"Een stofwisselingsstoornis, gekarakteriseerd door neurologische manifestaties."},"pt":{"name":"Homocistinúria por deficiência de metilenotetraidrofolato redutase","synonyms":["Deficiência de MTHFR","Homocistinúria por deficiência de MTHFR"],"definition":"A homocistinúria por deficiência da metilenotetrahidrofolato redutase (MTHFR) é uma doença metabólica caracterizada por manifestações neurológicas."},"pl":{"name":"Homocystynuria spowodowana niedoborem reduktazy metylenotetrahydrofolianu","synonyms":["Niedobór MTHFR","Niedobór reduktazy metylenotetrahydrofolianu"],"definition":"Homocystynuria spowodowana niedoborem reduktazy metylenotetrahydrofolianowej (MTHFR) jest zaburzeniem metabolicznym charakteryzującym się objawami neurologicznymi."},"cs":{"name":"Homocystinurie způsobená deficitem methylentetrahydrofolátreduktázy","synonyms":["Deficit MTHFR","Deficit methylentetrahydrofolátreduktázy"]},"uk":{"name":"Гомоцистинурія, зумовлена дефіцитом метилентетрагідрофолатредуктази","synonyms":["Дефіцит метилентетрагідрофолатредуктази","Дефіцит MTHFR"],"definition":"Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations."},"zh":{"name":"亚甲基四氢叶酸还原酶缺乏所致同型半胱氨酸尿症","synonyms":["亚甲基四氢叶酸还原酶缺乏症"]},"tr":{"name":"Metilen tetrahidrofolat redüktaz eksikliğine bağlı homosistinüri","synonyms":["MTHFR eksikliği","Metilen tetrahidrofolat redüktaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"236250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C63.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1119975297"},{"source":"MONDO","code":"0009353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856061","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2734","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070309","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":285657,"name":"Disorder of folate metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MTHFR","name":"methylenetetrahydrofolate reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7436","ensembl":"ENSG00000177000","omim":"607093","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"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":"2020-03-02","source":"29246599[PMID]_26872964[PMID]_29391032[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003286","label":"Cystathioninemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002156","label":"Homocystinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002160","label":"Hyperhomocystinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003658","label":"Hypomethioninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000725","label":"Psychotic episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001727","label":"Thromboembolic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}