MVA
MCID: MVL001
MIFTS: 62

Mevalonic Aciduria (MVA) malady

Eye diseases, Metabolic diseases categories

Summaries for Mevalonic Aciduria

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 familial mediterranean fever and hyper-igd syndrome, and has symptoms including blue sclerae, triangular face and downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures. An important gene associated with Mevalonic Aciduria is MVK (mevalonate kinase), and among its related pathways are superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate) and Statin Pathway, Pharmacodynamics. The compounds homoserine and isoprene have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related mouse phenotype integument.

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

Description from OMIM:46 610377

Aliases & Classifications for Mevalonic Aciduria

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mevalonic aciduria 8 9 42 22 21 46 10 48 60
mevalonate kinase deficiency 8 42 21
mevalonicaciduria 42 20 21
hyperimmunoglobulinemia d 21 60
hyperimmunoglobulin d with periodic fever 21
complete mevalonate kinase deficiency 48
mosaic variegated aneuploidy syndrome 60
deficiency of mevalonate kinase 60
periodic fever, dutch type 21
hyper igd syndrome 21
mevalonate kinase 9
mva 48


External Ids:

Disease Ontology8 DOID:0050452
OMIM46 610377
MeSH34 D054078
MESH via Orphanet35 D054078
ICD10 via Orphanet26 E88.8
SNOMED-CT via Orphanet57 124327008
UMLS via Orphanet61 C0342731, C1959626

Related Diseases for Mevalonic Aciduria

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17GeneCards, 18GeneDecks
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Diseases related to Mevalonic Aciduria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever30.3MVK, CARD17, NLRP3
2hyper-igd syndrome30.2IL1RN, MVK
3vaccinia10.7
4mosaic variegated aneuploidy syndrome 210.6
5mosaic variegated aneuploidy syndrome 110.6
6amyloidosis10.4
7microcephaly10.3
8zellweger syndrome10.3
9smallpox10.2
10crescentic glomerulonephritis10.2
11glomerulonephritis10.2
12keratopathy10.2
13pericarditis10.2
14retinitis pigmentosa10.2
15hyperimmunoglobulin syndrome10.2
16liver disease10.2
17retinitis10.2
18malaria10.2
19phenylketonuria10.1
20cerebellar ataxia10.1
21intestinal obstruction10.1
22thrombocytopenia10.1
23rhizomelic chondrodysplasia punctata10.1
24hepatitis b10.1
25hepatitis a10.1
26hepatitis10.1
27pneumonia10.1
28retinal vasculitis10.1
29vasculitis10.1
30recurrent fever multi-gene panels10.1
31plasmodium malariae malaria10.1
32monkeypox10.1
33influenza10.1
34mosaic variegated aneuploidy syndrome10.1
35schnitzler syndrome10.0IL1RN
36cataract10.0GALK1, MVK
37sitosterolemia10.0HMGCR
38pyoderma gangrenosum10.0NLRP3, MVK
39vascular disease10.0IL1RN, CARD17
40vitiligo10.0PAH
41blau syndrome10.0NLRP3, MVK
42metabolic syndrome x10.0PAH, GALK1, MVK
43exanthem10.0NLRP3, IL1RN
44chronic infantile neurological cutaneous articular syndrome10.0NLRP3, MVK, IL1RN
45hypercholesterolemia10.0HMGCR, FDFT1
46smith-lemli-opitz syndrome10.0HMGCR, EBP, FDFT1
47myopathy10.0MVK, FDFT1, HMGCR
48arthropathy10.0HMGCR, IL1RN, NLRP3
49hepatitis c9.9
50plasmodium vivax malaria9.9

Graphical network of the top 20 diseases related to Mevalonic Aciduria:



Diseases related to mevalonic aciduria

Clinical Features for Mevalonic Aciduria

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46OMIM, 48Orphanet
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Clinical features from OMIM:

610377

Clinical synopsis from OMIM:

610377

Symptoms:

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

Drugs & Therapeutics for Mevalonic Aciduria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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32MalaCards
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MalaCards organs/tissues related to Mevalonic Aciduria:

32
Skin, Liver, Spleen, Bone, Eye, Bone marrow

Animal Models for Mevalonic Aciduria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mevalonic Aciduria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0PAH, IL1RN, EBP, IDS, NLRP3

Publications for Mevalonic Aciduria

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50PubMed
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Articles related to Mevalonic Aciduria:

(show all 37)
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
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. (10896295)
2000
18
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
19
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. (10401001)
1999
20
Probing cataractogenesis associated with mevalonic aciduria. (9523093)
1998
21
Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. (9323576)
1997
22
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. (9266363)
1997
23
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. (8386351)
1993
24
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. (8261631)
1993
25
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. (8352861)
1993
26
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (1377680)
1992
27
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. (1331607)
1992
28
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
29
Mevalonic aciduria. (1653382)
1991
30
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
31
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. (3141709)
1988
32
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. (2850914)
1988
33
Mevalonic aciduria. (3338715)
1988
34
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. (3365255)
1988
35
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. (2846965)
1988
36
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. (3012338)
1986
37
Mevalonic aciduria: an inborn error of cholesterol biosynthesis? (4053401)
1985

Genetic Variations for Mevalonic Aciduria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mevalonic Aciduria:

62
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

Expression for genes affiliated with Mevalonic Aciduria

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1BioGPS, 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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37NCBI BioSystems Database, 29KEGG, 49PharmGKB, 53Reactome
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Compounds for genes affiliated with Mevalonic Aciduria

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Mevalonic Aciduria according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1homoserine4410.2MVK, GALK1
2isoprene4410.1MVK, FDFT1
3galactose-1-phosphate4410.0PAH, GALK1
4mgatp4410.0MVK, GALK1
5hind iii449.9IDS, PAH
6mevalonate pyrophosphate449.9MVK, HMGCR
7dolichol449.9MVK, HMGCR
8coq10449.9HMGCR, MVK
9geranylgeraniol449.8MVK, HMGCR
10u18666a449.8HMGCR, EBP
11zaragozic acid a44 2810.8FDFT1, HMGCR
12lathosterol44 2410.8HMGCR, EBP
1325-hydroxycholesterol44 28 2411.7HMGCR, MVK
147-dehydrocholesterol44 2410.7FDFT1, HMGCR
15phosphomevalonate449.6HMGCR, GALK1, MVK
16phenylalanine449.6MVK, GALK1, PAH
17ubiquinone449.6MVK, HMGCR
18Adenosine-5'-Diphosphate119.5HMGCR, GALK1
19farnesol44 28 11 2412.5MVK, FDFT1, HMGCR
20isopentenyl diphosphate44 2810.5MVK, FDFT1, HMGCR
21squalene44 2410.5HMGCR, FDFT1, MVK
22farnesyl diphosphate44 28 1111.5HMGCR, FDFT1, MVK
233-hydroxy-3-methylglutaryl-coa44 2410.5HMGCR, FDFT1, MVK
24lanosterol44 1110.5FDFT1, EBP, HMGCR
25lovastatin44 49 59 28 1113.4MVK, FDFT1, HMGCR
263beta-hydroxysteroid449.4EBP, FDFT1
27cholesterol ester449.3FDFT1, HMGCR
28clarithromycin44 1110.3HMGCR, IL1RN
29anakinra44 1110.2IL1RN, MVK, NLRP3
30sterol449.1MVK, FDFT1, EBP, HMGCR
31atorvastatin44 49 28 11 2412.9HMGCR, IL1RN, FDFT1
32methotrexate44 49 1110.7HMGCR, IL1RN, NLRP3
33mevalonate448.7HMGCR, FDFT1, GALK1, MVK, NLRP3
34simvastatin44 49 59 28 11 2413.7MVK, FDFT1, IL1RN, HMGCR
35epinephrine44 11 2410.6PAH, HMGCR, IL1RN
36threonine448.4NLRP3, MVK, GALK1, IL1RN, PAH
37atp44 289.3NLRP3, MVK, GALK1, FDFT1, IL1RN
38cholesterol44 28 11 2411.3HMGCR, IL1RN, EBP, FDFT1, MVK

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
1negative regulation of inflammatory responseGO:0507289.7MVK, NLRP3
2isoprenoid biosynthetic processGO:0082999.0MVK, FDFT1, HMGCR
3cholesterol biosynthetic processGO:0066958.8HMGCR, EBP, FDFT1, MVK
4small molecule metabolic processGO:0442817.3IDS, MVK, GALK1, FDFT1, EBP, HMGCR

Products for genes affiliated with Mevalonic Aciduria

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  • Antibodies
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Sources for Mevalonic Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet