mevalonate kinase deficiency

Findings

No curated finding names mevalonate kinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary periodic fever syndrome
• sterol biosynthesis disorder
• syndromic dyslipidemia

Narrower terms (2)

• hyperimmunoglobulinemia D with periodic fever
• mevalonic aciduria