MVA
MCID: MVL001
MIFTS: 55

Mevalonic Aciduria (MVA) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Mevalonic Aciduria

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:22 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:66 Mevalonate kinase deficiency, also called mevalonic aciduria, is an autosomal recessive metabolic... more...

Description from OMIM:48 610377

Aliases & Classifications for Mevalonic Aciduria

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 21GeneTests, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS 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):

50
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mevalonic aciduria 9 10 44 23 22 48 11 50 63
mevalonate kinase deficiency 9 44 22
mevalonicaciduria 44 21 22
hyperimmunoglobulinemia d 22 63
hyperimmunoglobulin d with periodic fever 22
mosaic variegated aneuploidy syndrome 63
complete mevalonate kinase deficiency 50
deficiency of mevalonate kinase 63
periodic fever, dutch type 22
hyper igd syndrome 22
mevalonate kinase 10
mva 50


External Ids:

Disease Ontology9 DOID:0050452
OMIM48 610377
MeSH36 D054078
MESH via Orphanet37 D054078
ICD10 via Orphanet27 E88.8
SNOMED-CT via Orphanet60 124327008
UMLS via Orphanet64 C0342731, C1959626

Related Diseases for Mevalonic Aciduria

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

610377

Clinical features from OMIM:

610377

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mevalonic Aciduria

Drug clinical trials:

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Search NIH Clinical Center for Mevalonic Aciduria

Search CenterWatch for Mevalonic Aciduria

Genetic Tests for Mevalonic Aciduria

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21GeneTests, 23GTR
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Genetic tests related to Mevalonic Aciduria:

id Genetic test Affiliating Genes
1 Mevalonicaciduria21 MVK
2 Mevalonic Aciduria23

Anatomical Context for Mevalonic Aciduria

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34MalaCards
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MalaCards organs/tissues related to Mevalonic Aciduria:

34
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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Mevalonic Aciduria:

65
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, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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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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46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Mevalonic Aciduria according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1anakinra46 1210.8IL1RN, MVK
2simvastatin46 52 62 30 25 1214.7MVK, IL1RN
3homoserine469.7GALK1, MVK
4phosphomevalonate469.7GALK1, MVK
5mgatp469.7GALK1, MVK
6mevalonate469.6GALK1, MVK
7mannose469.6GALK1, IL1RN
8neopterin469.4IL1RN, PAH
9creatinine469.4IL1RN, MVK
10proline469.4GALK1, MVK
11epinephrine46 25 1211.4IL1RN, PAH
12galactose-1-phosphate469.4PAH, GALK1
13histidine469.3MVK, PAH
14vitamin d469.3IL1RN, PAH
15norepinephrine46 25 1211.3PAH, IL1RN
16glycogen46 2510.2IL1RN, PAH
17atp46 3010.1GALK1, IL1RN, MVK
18glutamine469.0PAH, GALK1
19iron46 2510.0IL1RN, PAH
20alanine468.9PAH, MVK, IL1RN
21phenylalanine468.8GALK1, MVK, PAH
22hydrogen46 259.8IL1RN, PAH
23serine468.8PAH, MVK, IL1RN
24threonine468.3PAH, MVK, IL1RN, GALK1

GO Terms for genes affiliated with Mevalonic Aciduria

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet