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mevalonic aciduria

Human disease
Class type of: peroxisomal disease, genetic disease Q3043158

Facts

7 properties
Instance of
rare disease, class of disease[4]
Subclass of
peroxisomal disease, genetic disease
Genetic association
MVK[12]
Health specialty
hematology, neurology, immunology, medical genetics, endocrinology[7][8][9][10][11]
Mode of inheritance
autosomal recessive[5]
NCI Thesaurus ID
C84890[6]
On focus list of Wikimedia project
WikiProject Medicine[13]
🏷️ Also known as
en MKD en MVA en Complete mevalonate kinase deficiency en Hyperimmunoglobulin D with Periodic Fever Syndrome en MEVA en Mevalonate kinase deficiency en Mevalonate Kinase Deficiency en mevalonic aciduria en Mevalonicaciduria en MEVALONIC ACIDURIA en MEVALONIC ACIDURIA; MEVA ar عوز أنزيم ميفالونات كيناز de Mevalonatkinase-Mangel fa کمبود موالونات کیناز fr Acidurie mévalonique fr Déficit en mevalonate kinase fr déficit en mévalonate kinase fr Mevalonate kinase deficiency ja メバロン酸キナーゼ欠損症 pl Acyduria mewalonianowa
🔖 Identifiers · 19
Image (Wikimedia Commons)
Mevalonic.jpg ↗
BabelNet ID
03651621n
Disease Ontology ID
DOID:0050452
DiseasesDB
29843, omim.org, 30161
Exact match
purl.obolibrary.org, identifiers.org
GARD rare disease ID
3588
Genetics Home Reference Conditions ID
mevalonate-kinase-deficiency
ICD-10-CM
M04.1, E88.8
ICD-11 ID (Foundation)
572875152
KEGG ID
H00206
MeSH descriptor ID
D054078
MeSH tree code
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
Show all 19 identifiers +7
Microsoft Academic ID (discontinued)
2777444944, 2781289304
Mondo ID
MONDO_0012481
OMIM ID
261k (251k–610k, n=3)
Orphanet ID
309025, 29
SNOMED CT ID
124327008
UMLS CUI
C1959626, C0342731, C0398691
UniProt disease ID
DI-01975

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Health specialty 5
neurology, immunology, hematology, endocrinology, medical genetics
Instance of 1
rare disease
Mode of inheritance 1
autosomal recessive
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
genetic disease
← Has cause 1
hyper-IgD syndrome
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Summary

mevalonic aciduria is a rare disease[1]. It is a type of peroxisomal disease[2] and genetic disease[3].

Related Entities

endocrinology immunology neurology

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [4] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . UniProt. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

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APA 4ort.xyz Knowledge Graph. (2026). mevalonic aciduria. Retrieved November 6, 2026, from https://4ort.xyz/entity/mevalonic-aciduria
MLA “mevalonic aciduria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 6 Nov. 2026, https://4ort.xyz/entity/mevalonic-aciduria.
BibTeX @misc{4ortxyz_mevalonic-aciduria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{mevalonic aciduria}}, year = {2026}, url = {https://4ort.xyz/entity/mevalonic-aciduria}, note = {Accessed: 2026-11-06}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 17w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    On focus list of Wikimedia project → WikiProject Medicine
    Health specialty → hematology, neurology, immunology +2
    Mode of inheritance → autosomal recessive
    Subclass of → peroxisomal disease, genetic disease
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.