mevalonic aciduria
Sign in to saveAlso known as Mevalonate Kinase Deficiency, Mevalonate kinase deficiency, MVA, Complete mevalonate kinase deficiency, Mevalonicaciduria, MEVA, Hyperimmunoglobulin D with Periodic Fever Syndrome
Human disease
In the Vinony graph
Within Vinony's link graph, mevalonic aciduria is referenced by 69 other articles, and connects out to rare disease, immunoglobulin D and geranylgeranyl pyrophosphate.
It sits within the topics Autosomal recessive disorders, Cholesterol and steroid metabolism disorders and Neurological disorders.
Its subject is documented across 7 Wikipedia language editions.
Research
582 papers- Classification criteria for autoinflammatory recurrent fevers.Annals of the rheumatic diseases · 2019
- [Mevalonic aciduria].Ryoikibetsu shokogun shirizu · 1998
- Mevalonic aciduria.Journal of inherited metabolic disease · 1991
- Autoinflammatory Diseases/Periodic Fevers.Pediatrics in review · 2023
- Mevalonic aciduria.Hepatology (Baltimore, Md.) · 1988
via PubMed
Wikidata facts
- Subclass of
- genetic disease
- Image
- Mevalonic.jpg
Show 6 more facts
- health specialty
- hematology
- NCI Thesaurus ID
- C84890
- exact match
- identifiers.org/doid/DOID:0050452
- mode of inheritance
- autosomal recessive
- Commons category
- Mevalonate kinase deficiency
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0
Connections
rare disease
Entity
immunoglobulin D
Entity
geranylgeranyl pyrophosphate
Entity
Interleukin 1 beta
Protein
RAC1
Gene
RHOA
Gene
France
Country
Netherlands
Concept
urine
Entity
fever
Entity
diarrhea
Entity
gene
Entity
anemia
Entity
cholesterol
Entity
digital object identifier
Entity
International Standard Serial Number
Entity
inheritance
Entity
neurology
Entity
mutation
Entity
immunology
Entity