{"orpha":343,"name":"Hyperimmunoglobulinemia D with periodic fever","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HIDS","Hyper-IgD syndrome","Hyperimmunoglobinemia D with recurrent fever","Hyperimmunoglobulinemia D syndrome","Partial mevalonate kinase deficiency"],"definition":"A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-343/","orphanet_url":"https://www.orpha.net/en/disease/detail/343","names":{"fr":{"name":"Syndrome de fièvre périodique avec hyperimmunoglobulinémie D","synonyms":["Déficit partiel en mévalonate kinase","Fièvre récurrente avec hyper-IgD","Fièvre récurrente avec hyperimmunoglobulinémie D","HIDS","Syndrome hyper-IgD"],"definition":"Maladie auto-inflammatoire rare, forme de déficit en mévalonate kinase (MKD), caractérisée par des accès périodiques de fièvre et une réaction inflammatoire systémique (lymphadénopathie cervicale, douleurs abdominales, vomissements, diarrhée, arthralgie et signes cutanés)."},"de":{"name":"Hyperimmunglobulinämie D mit Rückfallfieber","synonyms":["HIDS","Hyper-IgD-Syndrom","Hyperimmunglobulinämie D mit periodischem Fieber","Hyperimmunglobulinämie D-Syndrom","Mevalonatkinase-Mangel, partieller"],"definition":"Eine seltene autoinflammatorische Erkrankung und Form des Mevalonat-Kinase-Mangels (MKD), die durch periodische Fieberschübe und eine systemische Entzündungsreaktion (zervikale Lymphadenopathie, Bauchschmerzen, Erbrechen, Durchfall, Arthralgie und Hauterscheinungen) gekennzeichnet ist."},"es":{"name":"Hiperinmunoglobulinemia D con fiebre periódica","synonyms":["Deficiencia parcial de mevalonato quinasa","HIDS","Hiperinmunoglobulinemia D con fiebre recurrente","SHID","Síndrome de hiper-IgD","Síndrome de hiperinmunoglobulinemia D"],"definition":"Es una enfermedad autoinflamatoria poco frecuente, y una forma de deficiencia de mevalonato cinasa (MKD; por sus siglas en inglés), caracterizada por episodios periódicos de fiebre y una reacción inflamatoria sistémica (linfadenopatía cervical, dolor abdominal, vómitos, diarrea, artralgia y manifestaciones cutáneas."},"it":{"name":"Iperimmunoglobulinemia D con febbre periodica","synonyms":["Deficit parziale di mevalonato chinasi","HIDS","Iperimmunoglobinemia D con febbre ricorrente","Sindrome da iper-IgD","Sindrome da iperimmunoglobulinemia D"],"definition":"L'iperimmunoglobinemia D con febbre periodica (HIDS) è una malattia rara autoinfiammatoria caratterizzata da attacchi febbrili periodici e da una reazione infiammatoria sistemica (linfadenopatia cervicale, dolore addominale, vomito, diarrea, artralgia e segni cutanei)."},"nl":{"name":"Hyperimmunoglobulinemie D met periodieke koorts","synonyms":["HIDS","Hyper-IgD-syndroom","Hyperimmunoglobulinemie D met recidiverende koorts","Hyperimmunoglobulinemie D-syndroom","Partiële deficiëntie van mevalonaatkinase"],"definition":"Een zeldzame, auto-inflammatoire aandoening en een vorm van deficiëntie van mevalonaatkinase (MVK), gekenmerkt door periodieke koortsaanvallen en een systemische ontstekingsreactie (cervicale lymfadenopathie, abdominale pijn, braken, diarree, artralgie, en huidmanifestaties)."},"pt":{"name":"Hiperimunoglobulinemia D com febre recorrente","synonyms":["Hiperimunoglobulinemia D com febre periódica","Síndrome hiper-IgD"],"definition":"A hiperimunoglobinemia D com febre periódica (HIDS) é uma doença autoinflamatória rara caracterizada por ataques periódicos de febre e uma reação inflamatória sistémica (linfadenopatia cervical, dor abdominal, vómitos, diarreia, artralgias e sintomas cutâneos)."},"pl":{"name":"Hiperimmunoglobulinemia D z gorączką okresową","synonyms":["Częściowy Niedobór kinazy mewalonianowej","HIDS","Hyperimmunoglobinemia D z gorączką nawracającą","Zespół hiper-IgD","Zespół hiperimmunoglobulinemii D"]},"cs":{"name":"Hyperimunoglobulinemie D s periodickou horečkou","synonyms":["HIDS","Hyper-IgD syndrom","Syndrom hyperimunoglobulinemie D","Parciální deficit mevalonát kinázy","Hyperimunoglobinemie D s návratnou horečkou"]},"uk":{"name":"Гіперімуноглобулінемія D з періодичною лихоманкою","synonyms":["HIDS","Синдром гіпер-IgD","Гіперімуноглобінемія D з рецидивуючою лихоманкою","Синдром гіперімуноглобулінемії D","Частковий дефіцит мевалонаткінази"],"definition":"A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations."},"zh":{"name":"高免疫球蛋白血症 D型伴周期性发热","synonyms":["高免疫球蛋白D血症伴周期性发热"]},"tr":{"name":"Periyodik ateşle birlikte hiperimmünoglobulinemi D","synonyms":["HIDS","Hiper IgD sendromu","Hiperimmünoglobulinemi D sendromu","Kısmi mevalonat kinaz eksikliği","Tekrarlayan ateş ile seyreden hiperimmünoglobinemi D"]}},"xrefs":[{"source":"OMIM","code":"260920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"910632716"},{"source":"MONDO","code":"0009849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398691","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":309025,"name":"Mevalonate kinase deficiency","classifications":[147,150,152,156,187,196,231,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}