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Mevalonate Kinase Deficiency MeSH Descriptor Data 2022


MeSH Heading
Mevalonate Kinase Deficiency
Tree Number(s)
C10.228.140.163.100.593
C15.378.147.542.319
C16.320.382.750
C16.320.565.189.593
C16.320.565.663.430
C18.452.132.100.593
C18.452.648.189.593
C18.452.648.663.430
C20.683.460.319
Unique ID
D054078
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054078
Scope Note
Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
Entry Term(s)
Hyper IgD Syndrome
Hyper-IgD Syndrome
Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D And Periodic Fever Syndrome
Mevalonic Aciduria
Mevalonicaciduria
Periodic Fever, Dutch Type
Public MeSH Note
2008
History Note
2008
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2015/06/08
Mevalonate Kinase Deficiency Preferred
Mevalonic Aciduria Narrower
Hyperimmunoglobulinemia D Related
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