{"orpha":29,"name":"Mevalonic aciduria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Complete mevalonate kinase deficiency","MVA"],"definition":"A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-29/","orphanet_url":"https://www.orpha.net/en/disease/detail/29","names":{"fr":{"name":"Acidurie mévalonique","synonyms":["AMV","Déficit complet en mévalonate kinase"],"definition":"Forme rare et sévère de déficit en mévalonate kinase (MKD) caractérisée par une dysmorphie, un retard de croissance, un retard psychomoteur, une atteinte oculaire, une hypotonie, une ataxie progressive, une myopathie et des épisodes inflammatoires récurrents."},"de":{"name":"Mevalonazidurie","synonyms":["MVA","Mevalonatkinase-Mangel, vollständiger"],"definition":"Eine sehr schwere Form des Mevalonat-Kinase (MVK)-Mangels, die durch dysmorphe Merkmale, Gedeihstörung, psychomotorische Verzögerung, Augenbeteiligung, Hypotonie, progressive Ataxie, Myopathie und wiederkehrende Entzündungsschübe gekennzeichnet ist."},"es":{"name":"Aciduria mevalónica","synonyms":["Deficiencia total de mevalonato quinasa","MVA"],"definition":"Es una forma muy grave y poco frecuente de deficiencia de mevalonato quinasa (MKD). Se presenta con rasgos dismórficos, fallo de medro, retraso psicomotor, afectación ocular, hipotonía, ataxia progresiva, miopatía y episodios inflamatorios recurrentes."},"it":{"name":"Aciduria mevalonica","synonyms":["Deficit completo di mevalonato chinasi","MVA"],"definition":"L'aciduria mevalonica (MVA) è una forma rara e molto grave di deficit di mevalonato chinasi (MVK; si veda questo temine). È caratterizzata da dismorfismi, ritardo della crescita, ritardo psicomotorio, interessamento degli occhi, ipotonia, atassia progressiva, miopatia ed episodi infiammatori ricorrenti."},"nl":{"name":"Mevalonacidurie","synonyms":["MVA","Volledige deficiëntie van mevalonaatkinase"],"definition":"Een zeldzame, zeer ernstige vorm van mevalonaatkinasedeficiëntie (MKD), gekarakteriseerd door dysmorfe kenmerken, groeifalen, psychomotorische achterstand, oculaire betrokkenheid, hypotonie, progressieve ataxie, myopathie, en recidiverende inflammatoire episodes."},"pt":{"name":"Acidúria mevalónica","synonyms":["Deficiência de mevalonato cinase"],"definition":"Uma forma rara e grave de deficiência de mevalonato quinase (MKD) caracterizada por dismorfismos faciais, dificuldade de crescimento, atraso psicomotor, compromisso ocular, hipotonia, ataxia progressiva, miopatia e episódios inflamatórios recorrentes."},"pl":{"name":"Kwasica mewalonianowa","synonyms":["Całkowity Niedobór kinazy mewalonianowej","MVA"]},"cs":{"name":"Mevalonová acidurie","synonyms":["Úplný deficit mevalonátkinázy","MVA"]},"uk":{"name":"Мевалонова ацидурія","synonyms":["Повна недостатність мевалонаткінази","MVA"],"definition":"A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes."},"zh":{"name":"甲羟戊酸尿症","synonyms":["完全性甲羟戊酸激酶缺乏症"]},"tr":{"name":"Mevalonik asitüri","synonyms":["MVA","Tam mevalonat kinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"610377","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"572875152"},{"source":"MONDO","code":"0012481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1959626","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3588","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072219","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":309025,"name":"Mevalonate kinase deficiency","classifications":[147,150,152,156,187,196,231,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MVK","name":"mevalonate kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7530","ensembl":"ENSG00000110921","omim":"251170","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"16722536[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null}]}}