Literature summary for 2.7.1.36 extracted from

Steichen, O.; van der Hilst, J.; Simon, A.; Cuisset, L.; Grateau, G.
A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever (2009), J. Rheumatol., 36, 1677-1681.

Search for more literature for 2.7.1.36

Application

Application	Comment	Organism
diagnostics	mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, and are an appropriate marker for the disease	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, an autosomal recessive autoinflammatory disease, phenotype	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	french population	-

General Information

General Information	Comment	Organism
malfunction	mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, an autosomal recessive autoinflammatory disease	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)