Structured Summary
Abstract
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.
MeSH Record
Classification
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
Synonyms
15 entry terms
- Kinase Deficiencies, Mevalonate
- Kinase Deficiency, Mevalonate
- Mevalonate Kinase Deficiencies
- Hyper IgD Syndrome
- Hyper-IgD Syndrome
- Hyperimmunoglobulinemia D
- Hyperimmunoglobulinemia D And Periodic Fever Syndrome
- Mevalonic Aciduria
- Mevalonicaciduria
- Periodic Fever, Dutch Type
- Aciduria, Mevalonic
- Hyper IgD Syndromes
- Hyper-IgD Syndromes
- Mevalonicacidurias
- Syndrome, Hyper-IgD
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2008
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Mevalonate Kinase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D054078. http://id.nlm.nih.gov/mesh/2026/D054078
- Mevalonate Kinase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Mevalonate_kinase_deficiency
- Mevalonate Kinase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q3043158