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.


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.


Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Familiäres kälteinduziertes autoinflammatorisches Syndrom
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Majeed syndrome
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
Mevalonic aciduria
Porokeratosis 3
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Rheumatoid arthritis progression
STING-associated vasculopathy with onset in infancy
Susceptibility to malignant hyperthermia 5
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome
Vasculitis due to ADA2 deficiency



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.


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


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.


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


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


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.


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


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.


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 article

Omim 251170 [^]
Update: April 29, 2019