Details of Disease

General Information of Disease (ID: DISSTRVK)

Disease Name Mevalonate kinase deficiency
Disease Hierarchy
DISPGGVL: Syndromic dyslipidemia
DISS9RWQ: Hereditary periodic fever syndrome
DIS91IFI: Sterol biosynthesis disorder
DISSTRVK: Mevalonate kinase deficiency
Disease Identifiers
MONDO ID
MONDO_0017708
UMLS CUI
C0342731
MedGen ID
87453
Orphanet ID
309025
SNOMED CT ID
124327008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FDFT1 TTFQEO5 Strong Genetic Variation [1]
PMVK TTXMI0C Strong Biomarker [2]
HMGCR TTPADOQ Definitive Biomarker [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRID2 OTJ3R10R Strong Biomarker [4]
MEFV OTRJ6S6K Strong Genetic Variation [5]
MMAB OTOWOEJN Strong Genetic Variation [6]
PSTPIP1 OT4PGEAB Strong Biomarker [7]
SEC23B OT2NFSIQ Strong Genetic Variation [8]
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References

1 Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
2 Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.Biochem Biophys Res Commun. 1998 Jun 29;247(3):663-7. doi: 10.1006/bbrc.1998.8836.
3 Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem. 2003 Feb 21;278(8):5736-43.
4 GRID2 a novel gene possibly associated with mevalonate kinase deficiency.Rheumatol Int. 2015 Apr;35(4):657-9. doi: 10.1007/s00296-014-3115-y. Epub 2014 Aug 22.
5 An Update on Autoinflammatory Diseases: Inflammasomopathies.Curr Rheumatol Rep. 2018 May 30;20(7):40. doi: 10.1007/s11926-018-0750-4.
6 MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.Rheumatol Int. 2018 Jan;38(1):121-127. doi: 10.1007/s00296-017-3890-3. Epub 2017 Dec 12.
7 Autoinflammatory gene mutations in Behet's disease.Ann Rheum Dis. 2007 Jun;66(6):832-4. doi: 10.1136/ard.2006.068841. Epub 2007 Jan 9.
8 A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.Pediatrics. 2010 Apr;125(4):e964-8. doi: 10.1542/peds.2009-1774. Epub 2010 Mar 1.