MVA
MCID: MVL001
MIFTS: 55

Mevalonic Aciduria (MVA) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Mevalonic Aciduria

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. during these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. this deficiency occurs as a result of inherited mutations in the mvk gene. this condition is inherited in an autosomal recessive pattern. treatment is challenging and remains mainly supportive.the less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia d syndrome (hids).  last updated: 2/6/2012

MalaCards: Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and vaccinia, and has symptoms including ataxia/incoordination/trouble of the equilibrium, low set ears/posteriorly rotated ears and cataract/lens opacification. An important gene associated with Mevalonic Aciduria is MVK (mevalonate kinase), and among its related pathways are SIDS Susceptibility Pathways and Metabolism. The compounds anakinra and simvastatin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen.

Genetics Home Reference:21 Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.

Wikipedia:65 Mevalonate kinase deficiency, also called mevalonic aciduria, is an autosomal recessive metabolic... more...

Description from OMIM:47 610377

Aliases & Classifications for Mevalonic Aciduria

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 20GeneTests, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

49
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mevalonic aciduria 8 9 43 22 21 47 10 49 62
mevalonate kinase deficiency 8 43 21
mevalonicaciduria 43 20 21
hyperimmunoglobulinemia d 21 62
hyperimmunoglobulin d with periodic fever 21
mosaic variegated aneuploidy syndrome 62
complete mevalonate kinase deficiency 49
deficiency of mevalonate kinase 62
periodic fever, dutch type 21
hyper igd syndrome 21
mevalonate kinase 9
mva 49


External Ids:

Disease Ontology8 DOID:0050452
OMIM47 610377
MeSH35 D054078
MESH via Orphanet36 D054078
ICD10 via Orphanet26 E88.8
SNOMED-CT via Orphanet59 124327008
UMLS via Orphanet63 C0342731, C1959626

Related Diseases for Mevalonic Aciduria

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mevalonic Aciduria:



Diseases related to mevalonic aciduria

Symptoms for Mevalonic Aciduria

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

610377

Clinical features from OMIM:

610377

Symptoms:

49 (show all 17)
  • ataxia/incoordination/trouble of the equilibrium
  • low set ears/posteriorly rotated ears
  • cataract/lens opacification
  • blue sclerae
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • delayed bone age
  • dolichocephaly/scaphocephaly
  • large fontanelle/delayed fontanelle closure
  • triangular face
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • splenomegaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • microcephaly

Drugs & Therapeutics for Mevalonic Aciduria

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mevalonic Aciduria

Search NIH Clinical Center for Mevalonic Aciduria

Genetic Tests for Mevalonic Aciduria

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20GeneTests, 22GTR
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Genetic tests related to Mevalonic Aciduria:

id Genetic test Affiliating Genes
1 Mevalonicaciduria20 MVK
2 Mevalonic Aciduria22

Anatomical Context for Mevalonic Aciduria

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33MalaCards
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MalaCards organs/tissues related to Mevalonic Aciduria:

33
Skin, Liver, Spleen, Bone, Eye, Bone marrow

Animal Models for Mevalonic Aciduria or affiliated genes

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Publications for Mevalonic Aciduria

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52PubMed
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Articles related to Mevalonic Aciduria:

(show all 36)
idTitleAuthorsYear
1
Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. (22405037)
2012
2
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. (23146290)
2012
3
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. (19504350)
2009
4
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. (20027140)
2009
5
The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria. (18037572)
2008
6
Abnormal prenatal ultrasound findings in mevalonic aciduria. (18264963)
2008
7
Mevalonic aciduria: report of two cases. (17578678)
2007
8
Allogeneic bone marrow transplantation in mevalonic aciduria. (17596604)
2007
9
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. (17442628)
2007
10
Mevalonic aciduria cured by bone marrow transplantation. (17898110)
2007
11
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. (16722536)
2006
12
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria. (16435209)
2005
13
Novel genotype of mevalonic aciduria with fatalities in premature siblings. (14711867)
2004
14
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria. (12162608)
2002
15
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. (11313768)
2001
16
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? (11486910)
2001
17
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene. (10896296)
2000
18
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. (10401001)
1999
19
Probing cataractogenesis associated with mevalonic aciduria. (9523093)
1998
20
Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. (9323576)
1997
21
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. (9266363)
1997
22
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. (8386351)
1993
23
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. (8261631)
1993
24
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. (8352861)
1993
25
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (1377680)
1992
26
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. (1331607)
1992
27
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. (1653652)
1991
28
Mevalonic aciduria. (1653382)
1991
29
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. (2543551)
1989
30
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. (3141709)
1988
31
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. (2850914)
1988
32
Mevalonic aciduria. (3338715)
1988
33
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. (3365255)
1988
34
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. (2846965)
1988
35
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. (3012338)
1986
36
Mevalonic aciduria: an inborn error of cholesterol biosynthesis? (4053401)
1985

Variations for Mevalonic Aciduria

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Mevalonic Aciduria:

64
id Symbol AA change Variation ID SNP ID
1MVKp.His20ProVAR_004022
2MVKp.Ile268ThrVAR_004024
3MVKp.Asn301ThrVAR_004025rs28934896
4MVKp.Ala334ThrVAR_004026
5MVKp.Val310MetVAR_009068
6MVKp.Thr243IleVAR_010964
7MVKp.Leu264PheVAR_010965
8MVKp.Leu265ProVAR_010966

Clinvar genetic disease variations for Mevalonic Aciduria:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.902A> C (p.Asn301Thr)single nucleotide variantPathogenicrs121917789GRCh37Chr 12, 110032849: 110032849
2MVKNM_000431.3(MVK): c.1129G> A (p.Val377Ile)single nucleotide variantPathogenicrs28934897GRCh37Chr 12, 110034320: 110034320
3MVKNM_000431.3(MVK): c.1000G> A (p.Ala334Thr)single nucleotide variantPathogenicrs104895317GRCh37Chr 12, 110032947: 110032947
4MVKNM_000431.3(MVK): c.59A> C (p.His20Pro)single nucleotide variantPathogenicrs104895295GRCh37Chr 12, 110012686: 110012686
5MVKNM_000431.3(MVK): c.803T> C (p.Ile268Thr)single nucleotide variantPathogenicrs104895304GRCh37Chr 12, 110029080: 110029080
6MVKNM_000431.3(MVK): c.494C> T (p.Pro165Leu)single nucleotide variantPathogenicrs121917790GRCh37Chr 12, 110019322: 110019322
7MVKNM_000431.3(MVK): c.928G> A (p.Val310Met)single nucleotide variantPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
8MVKMVK, 19-BP DELdeletionPathogenic
9MVKNM_000431.3(MVK): c.500C> T (p.Pro167Leu)single nucleotide variantPathogenicrs104895300GRCh37Chr 12, 110019328: 110019328
10MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
11MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019246
12BUB1BNM_001211.5(BUB1B): c.580C> T (p.Arg194Ter)single nucleotide variantPathogenicrs28989186GRCh37Chr 15, 40468873: 40468873
13BUB1BNM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe)single nucleotide variantPathogenicrs28989181GRCh37Chr 15, 40504844: 40504844
14NM_001211.5(BUB1B): c.2763G> C (p.Gln921His)single nucleotide variantPathogenicrs28989183GRCh37Chr 15, 40509781: 40509781
15BUB1BNM_001211.5(BUB1B): c.2441G> A (p.Arg814His)single nucleotide variantPathogenicrs28989182GRCh37Chr 15, 40504755: 40504755
16NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro)single nucleotide variantPathogenicrs28989185GRCh37Chr 15, 40512842: 40512842
17BUB1BNM_001211.5(BUB1B): c.1649G> A (p.Arg550Gln)single nucleotide variantPathogenicrs28989187GRCh37Chr 15, 40494810: 40494810
18MVKNM_000431.3(MVK): c.72dupT (p.Gly25Trpfs)duplicationPathogenicrs104895322GRCh37Chr 12, 110012699: 110012700
19MVKNM_000431.3(MVK): c.421dupG (p.Ala141Glyfs)duplicationPathogenicrs104895323GRCh37Chr 12, 110019249: 110019250

Expression for genes affiliated with Mevalonic Aciduria

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mevalonic Aciduria

Search GEO for disease gene expression data for Mevalonic Aciduria.

Pathways for genes affiliated with Mevalonic Aciduria

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Mevalonic Aciduria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1IL1RN, PAH
2
Show member pathways
8.5GALK1, MVK, PAH

Compounds for genes affiliated with Mevalonic Aciduria

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45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Mevalonic Aciduria according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1anakinra45 1110.8IL1RN, MVK
2simvastatin45 51 61 29 24 1114.7MVK, IL1RN
3homoserine459.7GALK1, MVK
4phosphomevalonate459.7GALK1, MVK
5mgatp459.7GALK1, MVK
6mevalonate459.6GALK1, MVK
7mannose459.6GALK1, IL1RN
8neopterin459.4IL1RN, PAH
9creatinine459.4IL1RN, MVK
10proline459.4GALK1, MVK
11epinephrine45 24 1111.4IL1RN, PAH
12galactose-1-phosphate459.4PAH, GALK1
13histidine459.3MVK, PAH
14vitamin d459.3IL1RN, PAH
15norepinephrine45 24 1111.3PAH, IL1RN
16glycogen45 2410.2IL1RN, PAH
17atp45 2910.1GALK1, IL1RN, MVK
18glutamine459.0PAH, GALK1
19iron45 2410.0IL1RN, PAH
20alanine458.9PAH, MVK, IL1RN
21phenylalanine458.8GALK1, MVK, PAH
22hydrogen45 249.8IL1RN, PAH
23serine458.8PAH, MVK, IL1RN
24threonine458.3PAH, MVK, IL1RN, GALK1

GO Terms for genes affiliated with Mevalonic Aciduria

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16Gene Ontology
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Biological processes related to Mevalonic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442818.5GALK1, MVK, PAH

Products for genes affiliated with Mevalonic Aciduria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mevalonic Aciduria

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet