Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Classification

According to allelic variants three phenotypes can be distinguished:

  1. Poroceratosis 3 is the mildes form showing only skin lesions. Inheritance is dominant.
  2. Hyper-IgD syndrome is characterized by recurrent fever and elevated immunoglobulin D. Inheritance is recessive.
  3. Mevalonic aciduria is the most severe form involving many organ systems and causing early death. Inheritance is recessive.

Systematic

Chronic inflammatory disorders
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Inflammatory bowel disease
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
MVK
Porokeratosis 3
MVK
Susceptibility to malignant hyperthermia 5
TNF receptor-associated periodic syndrome

References:

1.

Houten SM et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

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2.

Drenth JP et al. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

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3.

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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4.

Hinson DD et al. (1999) Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

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5.

Houten SM et al. (2001) Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

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6.

Cuisset L et al. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

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7.

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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8.

Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

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9.

Schafer BL et al. (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

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10.

Wu LQ et al. (2004) Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.

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11.

D'Osualdo A et al. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

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12.

Balgobind B et al. (2005) Retinitis pigmentosa in mevalonate kinase deficiency.

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13.

Mandey SH et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

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14.

Zhang SQ et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

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15.

Siemiatkowska AM et al. (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

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16.

Fredonnet J et al. (2014) Topographical and nano-mechanical characterization of native corneocytes using atomic force microscopy.

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17.

van der Meer JW et al. (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.

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18.

Krisans SK et al. (1994) Farnesyl-diphosphate synthase is localized in peroxisomes.

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19.

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.

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20.

Hoffmann GF et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

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21.

Gibson KM et al. (1997) Mevalonate kinase map position 12q24.

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Update: Sept. 26, 2018