Condition: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1


rs104895322 in MMAB;MVK gene and POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

rs104895301 in MVK gene and POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 PMID 22983302 2012 Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

PMID 24781643 2014 Splicing mutation in MVK is a cause of porokeratosis of Mibelli.

PMID 10401001 1999 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

PMID 27213830 2016 The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

PMID 27142780 2016 Natural history of mevalonate kinase deficiency: a literature review.

PMID 10417275 1999 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

PMID 21425920 2011 Perinatal onset mevalonate kinase deficiency.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 19011501 2008 Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

PMID 23692791 2014 Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 26116953 2016 Treatment of adult hyper-IgD syndrome with canakinumab.

PMID 24470648 2014 Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

PMID 28095071 2017 Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.

PMID 19786432 2009 Differentiating PFAPA syndrome from monogenic periodic fevers.

PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 9334262 1997 Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.

PMID 24084495 2013 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

PMID 16435210 2005 Retinitis pigmentosa in mevalonate kinase deficiency.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

PMID 11111075 2000 Biochemical and genetic aspects of mevalonate kinase and its deficiency.

PMID 21548022 2011 Significant liver disease in a patient with Y116H mutation in the MVK gene.

PMID 20194276 2010 A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.

PMID 23979089 2013 Severe early-onset colitis revealing mevalonate kinase deficiency.

PMID 12634869 2003 Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.

PMID 26977311 2016 Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

PMID 15536479 2005 MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.