MVK, mevalonate kinase, 4598

N. diseases: 139; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
0.020 GeneticVariation disease BEFREE The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the <i>MVK</i> gene encoding mevalonate kinase. 31474985 2019
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
0.020 Biomarker disease BEFREE Mutations in the genes encoding pyrin and mevalonate kinase (MVK) cause distinct interleukin-1β (IL-1β)-mediated autoinflammatory diseases: familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS). 27270401 2016