Mevalonate kinase-associated inflammatory diseases
Mevalonate kinase-associated inflammatory diseases is a group of disorders caused by mutations of the MVK gene. Depending on the type of mutation, reactions can be local skin leasions or severly systemic.
According to allelic variants three phenotypes can be distinguished:
- Poroceratosis 3 is the mildes form showing only skin lesions. Inheritance is dominant.
- Hyper-IgD syndrome is characterized by recurrent fever and elevated immunoglobulin D. Inheritance is recessive.
- Mevalonic aciduria is the most severe form involving many organ systems and causing early death. Inheritance is recessive.
Drenth JP et al. (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.[^]
Houten SM et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.[^]
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Cuisset L et al. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.[^]
Houten SM et al. (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.[^]
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Balgobind B et al. (2005) Retinitis pigmentosa in mevalonate kinase deficiency.[^]
Siemiatkowska AM et al. (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.[^]
van der Meer JW et al. (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.[^]
Houten SM et al. (1999) Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.[^]
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Schafer BL et al. (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.[^]
Wu LQ et al. (2004) Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.[^]
Mandey SH et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.[^]
Zhang SQ et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.[^]
Fredonnet J et al. (2014) Topographical and nano-mechanical characterization of native corneocytes using atomic force microscopy.[^]
Krisans SK et al. (1994) Farnesyl-diphosphate synthase is localized in peroxisomes.[^]
Hoffmann GF et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.[^]
Gibson KM et al. (1997) Mevalonate kinase map position 12q24.[^]
OMIM.ORG articleOmim 251170 [^]