{"code":"C84890","name":"Mevalonate Kinase Deficiency","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Mevalonate Kinase Deficiency","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Mevalonate Kinase Deficiency","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Mevalonic Aciduria","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"HIDS","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hyperimmunoglobulin D with Periodic Fever Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Mevalonate Kinase Deficiency","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"MKD","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Mevalonate Kinase Deficiency","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C1959626"}],"parents":[{"code":"C97092","name":"Lipid Metabolism Disorder"},{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C176451","relatedName":"MVK Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}