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GENATLAS PHENOTYPE

last update : 18-10-2016

Symbol	MVKD
Location	12q24.11
Name	mevalonate kinase deficiency
Corresponding gene	MVK
Other symbol(s)	MVK
Main clinical features	acute infantile form, characterized by dysmorphic features, cataract, diarrhea, failure to thrive, recurrent fever, hepatomegaly, splenomegaly, lymphadenopathy, anemia, normal cholesterol level and death in infancy
Genetic determination	autosomal recessive
Related entries	. including moderate form with psychomotor retardation, hypotonia, myopathy and ataxia, mevalonicaciduria, see also HIDS
Function/system disorder	metabolism/organic acid
Type	disease

Gene product

Name	mevalonate kinase (MVK)

Remark(s)

possible role for GRID2 as possible phenotype modifier in MVK patients, especially in those with severe phenotypes (PMID: 25146332))