ID: 68

Disease Name: Mevalonate Kinase Deficiency

Description: 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.

Disease Type: Clinical conditions associated with amyloidosis

ICD-10 Classification: Other

Tissue: Kidney, Spleen, Liver

Cross References
https://www.ncbi.nlm.nih.gov/pubmed/15457465

https://www.ncbi.nlm.nih.gov/pubmed/19011501

https://www.ncbi.nlm.nih.gov/pubmed/27213830

https://www.ncbi.nlm.nih.gov/pubmed/8973873

https://www.ncbi.nlm.nih.gov/pubmed/15536479

https://meshb.nlm.nih.gov/record/ui?ui=D054078

https://www.omim.org/entry/610377

https://www.omim.org/entry/260920

Alternative Names:
Hyper IgD Syndrome
Hyper-IgD Syndrome
Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D And Periodic Fever Syndrome
Mevalonic Aciduria
Mevalonicaciduria
Periodic Fever, Dutch Type
HIDS
Hyperimmunoglobulinemia D syndrome
Hyperimmunoglobinemia D with recurrent fever
MEVA

Precursor Proteins:
P0DJI8 | Serum amyloid A-1 protein
P0DJI9 | Serum amyloid A-2 protein


Co-deposited Proteins:
No information available



Link to Amyloidosis: 
	http://83.212.109.111:8084/amyco/29

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