Details of Disease

General Information of Disease (ID: DISHJKP5)

Disease Name Mevalonic aciduria
Synonyms Mevalonicaciduria; MEVA; MVA; mevalonic aciduria; hyperimmunoglobulin D with periodic fever syndrome; HIDS; MKD; complete mevalonate kinase deficiency
Definition
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Disease Hierarchy
DISB52BH: Eye disorder
DISSTRVK: Mevalonate kinase deficiency
DISHJKP5: Mevalonic aciduria
Disease Identifiers
MONDO ID
MONDO_0012481
MESH ID
D054078
UMLS CUI
C1959626
OMIM ID
610377
MedGen ID
368373
Orphanet ID
29
SNOMED CT ID
718558008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MVK TT5DFHW Limited Genetic Variation [1]
FDFT1 TTFQEO5 Strong Genetic Variation [2]
HMGCR TTPADOQ Definitive Biomarker [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MVK DEAO92K Definitive Mitochondrial [4]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MVK OTHJCUKT Definitive Mitochondrial [4]
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References

1 Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.Front Immunol. 2019 Aug 14;10:1900. doi: 10.3389/fimmu.2019.01900. eCollection 2019.
2 Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
3 Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem. 2003 Feb 21;278(8):5736-43.
4 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.