{"orpha":309025,"name":"Mevalonate kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MKD"],"definition":"A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309025/","orphanet_url":"https://www.orpha.net/en/disease/detail/309025","names":{"fr":{"name":"Déficit en mévalonate kinase","definition":"Erreur innée du métabolisme rare caractérisée par un spectre de présentations allant d'un syndrome de fièvre périodique avec hyperimmunoglobulinémie&nbsp;D (syndrome hyper-IgD) à une acidurie mévalonique."},"de":{"name":"Mevalonatkinase-Mangel","definition":"Ein seltener angeborener Stoffwechseldefekt, der durch ein Spektrum von Erscheinungsformen gekennzeichnet ist, die von Hyperimmunglobulinämie D mit periodischem Fieber (HIDS) bis hin zu Mevalonazidurie reichen."},"es":{"name":"Deficiencia de mevalonato quinasa","synonyms":["Deficiencia de mevalonato cinasa","MKD"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por un espectro clínico variable, desde una hiperinmunoglobulinemia D con fiebre periódica (HIDS) hasta una aciduria mevalónica."},"it":{"name":"Deficit di mevalonato chinasi","definition":"Il deficit di mevalonato chinasi (MKD) è un errore congenito raro del metabolismo. Il quadro clinico varia dall'iperimmunoglobulinemia D con febbre periodica (HIDS) all'aciduria mevalonica."},"nl":{"name":"Deficiëntie van mevalonaatkinase","synonyms":["MKD"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door een spectrum van presentaties gaande van hyperimmunoglobulinemie D met periodieke koorts (HIDS) tot mevalonacidurie."},"pt":{"name":"Défice de mevalonato quinase"},"pl":{"name":"Niedobór kinazy mewalonowej","synonyms":["MKD"]},"cs":{"name":"Deficit mevalonátkinázy","synonyms":["MKD"]},"uk":{"name":"Дефіцит мевалонаткінази","synonyms":["MKD"],"definition":"A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria."},"zh":{"name":"甲羟戊酸激酶缺乏"},"tr":{"name":"Mevalonat kinaz eksikliği","synonyms":["MKD"]}},"xrefs":[{"source":"OMIM","code":"260920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610377","qualifier":"BTNT","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":"772056052"},{"source":"MONDO","code":"0017708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054078","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]},{"orpha":717874,"name":"Rare inborn error of metabolism with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[{"orpha":343,"name":"Hyperimmunoglobulinemia D with periodic fever","type":"Clinical subtype"},{"orpha":29,"name":"Mevalonic aciduria","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":29,"name":"Mevalonic aciduria"}},{"symbol":"MVK","name":"mevalonate kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11313769[PMID]_10369262[PMID]","hgnc":"7530","ensembl":"ENSG00000110921","omim":"251170","loci":["12q24.11"],"via":{"orpha":343,"name":"Hyperimmunoglobulinemia D with periodic fever"}}],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"27142780[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}