MVA
MCID: MVL001
MIFTS: 61

Mevalonic Aciduria (MVA) malady

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

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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 based summary: Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and cataract, and has symptoms including microcephaly, dolichocephaly/scaphocephaly and large fontanelle/delayed fontanelle closure. An important gene associated with Mevalonic Aciduria is MVK (mevalonate kinase), and among its related pathways is SIDS Susceptibility Pathways. The compounds anakinra and homoserine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related mouse phenotypes are integument and vision/eye.

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:46 610377

Aliases & Classifications for Mevalonic Aciduria

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 20GeneTests, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Mevalonic Aciduria, Aliases & Descriptions:

Name: Mevalonic Aciduria 8 9 42 22 21 46 10 48 62
Mevalonate Kinase Deficiency 8 42 21
Mevalonicaciduria 42 20 21
Hyperimmunoglobulin D with Periodic Fever 21 62
Hyperimmunoglobulinemia D 21 62
Mosaic Variegated Aneuploidy Syndrome 62
Complete Mevalonate Kinase Deficiency 48
 
Deficiency of Mevalonate Kinase 62
Periodic Fever, Dutch Type 21
Hyper-Igd Syndrome 62
Hyper Igd Syndrome 21
Mevalonate Kinase 9
Mva 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050452
OMIM46 610377
MeSH34 D054078
MESH via Orphanet35 D054078
ICD10 via Orphanet26 E88.8
UMLS via Orphanet63 C0342731, C1959626

Related Diseases for Mevalonic Aciduria

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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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Symptoms by clinical synopsis from OMIM:

610377

Clinical features from OMIM:

610377

Symptoms:

48 (show all 17)
  • microcephaly
  • 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
  • delayed bone age
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • blue sclerae
  • cataract/lens opacification
  • low set ears/posteriorly rotated ears
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Mevalonic Aciduria:

(show all 50)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 microcephaly hallmark (90%) HP:0000252
3 dolichocephaly hallmark (90%) HP:0000268
4 triangular face hallmark (90%) HP:0000325
5 downslanted palpebral fissures hallmark (90%) HP:0000494
6 seizures hallmark (90%) HP:0001250
7 muscular hypotonia hallmark (90%) HP:0001252
8 splenomegaly hallmark (90%) HP:0001744
9 cerebral cortical atrophy hallmark (90%) HP:0002120
10 delayed skeletal maturation hallmark (90%) HP:0002750
11 short stature hallmark (90%) HP:0004322
12 cognitive impairment hallmark (90%) HP:0100543
13 low-set, posteriorly rotated ears typical (50%) HP:0000368
14 cataract typical (50%) HP:0000518
15 blue sclerae typical (50%) HP:0000592
16 incoordination typical (50%) HP:0002311
17 kyphoscoliosis rare (5%) HP:0002751
18 autosomal recessive inheritance HP:0000007
19 large fontanelles HP:0000239
20 microcephaly HP:0000252
21 dolichocephaly HP:0000268
22 triangular face HP:0000325
23 posteriorly rotated ears HP:0000358
24 low-set ears HP:0000369
25 downslanted palpebral fissures HP:0000494
26 cataract HP:0000518
27 blue sclerae HP:0000592
28 nystagmus HP:0000639
29 edema HP:0000969
30 skin rash HP:0000988
31 muscular hypotonia HP:0001252
32 global developmental delay HP:0001263
33 cerebellar atrophy HP:0001272
34 failure to thrive HP:0001508
35 thrombocytopenia HP:0001873
36 leukocytosis HP:0001974
37 vomiting HP:0002013
38 diarrhea HP:0002014
39 cerebral atrophy HP:0002059
40 progressive cerebellar ataxia HP:0002073
41 agenesis of cerebellar vermis HP:0002335
42 lymphadenopathy HP:0002716
43 arthralgia HP:0002829
44 elevated hepatic transaminases HP:0002910
45 elevated serum creatine phosphokinase HP:0003236
46 short stature HP:0004322
47 normocytic hypoplastic anemia HP:0004819
48 fluctuating splenomegaly HP:0006268
49 fluctuating hepatomegaly HP:0006564
50 morbilliform rash HP:0012282

Drugs & Therapeutics for Mevalonic Aciduria

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Drug clinical trials:

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Search NIH Clinical Center for Mevalonic Aciduria

Genetic Tests for Mevalonic Aciduria

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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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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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MGI Mouse Phenotypes related to Mevalonic Aciduria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6IL1RN, PAH, BUB1B
2MP:00053918.2BUB1B, PAH, GALK1
3MP:00053767.9GALK1, IL1RN, PAH, BUB1B

Publications for Mevalonic Aciduria

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Articles related to Mevalonic Aciduria:

(show all 38)
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
Retinitis pigmentosa and punctate cataracts in mevalonic aciduria. (25390116)
2010
4
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. (19504350)
2009
5
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. (20027140)
2009
6
The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria. (18037572)
2008
7
Abnormal prenatal ultrasound findings in mevalonic aciduria. (18264963)
2008
8
Mevalonic aciduria: report of two cases. (17578678)
2007
9
Allogeneic bone marrow transplantation in mevalonic aciduria. (17596604)
2007
10
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. (17442628)
2007
11
Mevalonic aciduria cured by bone marrow transplantation. (17898110)
2007
12
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. (16722536)
2006
13
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria. (16435209)
2005
14
Novel genotype of mevalonic aciduria with fatalities in premature siblings. (14711867)
2004
15
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria. (12162608)
2002
16
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. (11313768)
2001
17
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? (11486910)
2001
18
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. (10896295)
2000
19
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
20
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. (10401001)
1999
21
Probing cataractogenesis associated with mevalonic aciduria. (9523093)
1998
22
Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. (9323576)
1997
23
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. (9266363)
1997
24
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. (8386351)
1993
25
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. (8261631)
1993
26
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. (8352861)
1993
27
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (1377680)
1992
28
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. (1331607)
1992
29
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
30
Mevalonic aciduria. (1653382)
1991
31
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
32
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. (3141709)
1988
33
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. (2850914)
1988
34
Mevalonic aciduria. (3338715)
1988
35
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. (3365255)
1988
36
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. (2846965)
1988
37
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. (3012338)
1986
38
Mevalonic aciduria: an inborn error of cholesterol biosynthesis? (4053401)
1985

Variations for Mevalonic Aciduria

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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:

6 (show all 16)
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.1000G> A (p.Ala334Thr)single nucleotide variantPathogenicrs104895317GRCh37Chr 12, 110032947: 110032947
3MVKNM_000431.3(MVK): c.59A> C (p.His20Pro)single nucleotide variantPathogenicrs104895295GRCh37Chr 12, 110012686: 110012686
4MVKNM_000431.3(MVK): c.803T> C (p.Ile268Thr)single nucleotide variantPathogenicrs104895304GRCh37Chr 12, 110029080: 110029080
5MVKNM_000431.3(MVK): c.928G> A (p.Val310Met)single nucleotide variantPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
6MVKMVK, 19-BP DELdeletionPathogenic
7MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
8MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019246
9BUB1BNM_001211.5(BUB1B): c.580C> T (p.Arg194Ter)single nucleotide variantPathogenicrs28989186GRCh37Chr 15, 40468873: 40468873
10BUB1BNM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe)single nucleotide variantPathogenicrs28989181GRCh37Chr 15, 40504844: 40504844
11NM_001211.5(BUB1B): c.2763G> C (p.Gln921His)single nucleotide variantPathogenicrs28989183GRCh37Chr 15, 40509781: 40509781
12BUB1BNM_001211.5(BUB1B): c.2441G> A (p.Arg814His)single nucleotide variantPathogenicrs28989182GRCh37Chr 15, 40504755: 40504755
13NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro)single nucleotide variantPathogenicrs28989185GRCh37Chr 15, 40512842: 40512842
14BUB1BNM_001211.5(BUB1B): c.1649G> A (p.Arg550Gln)single nucleotide variantPathogenicrs28989187GRCh37Chr 15, 40494810: 40494810
15MVKNM_000431.3(MVK): c.72dupT (p.Gly25Trpfs)duplicationPathogenicrs104895322GRCh37Chr 12, 110012699: 110012700
16MVKNM_000431.3(MVK): c.421dupG (p.Ala141Glyfs)duplicationPathogenicrs104895323GRCh37Chr 12, 110019249: 110019250

Expression for genes affiliated with Mevalonic Aciduria

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Expression patterns in normal tissues for genes affiliated with Mevalonic Aciduria

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Pathways for genes affiliated with Mevalonic Aciduria

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Pathways related to Mevalonic Aciduria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1IL1RN, PAH

Compounds for genes affiliated with Mevalonic Aciduria

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Compounds related to Mevalonic Aciduria according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1anakinra44 1110.8IL1RN, MVK
2homoserine449.7GALK1, MVK
3phosphomevalonate449.7GALK1, MVK
4mgatp449.7GALK1, MVK
5mevalonate449.7GALK1, MVK
6simvastatin44 50 61 28 24 1114.7IL1RN, MVK
7mannose449.5GALK1, IL1RN
8neopterin449.4PAH, IL1RN
9galactose-1-phosphate449.3GALK1, PAH
10histidine449.3MVK, PAH
11epinephrine44 24 1111.2PAH, IL1RN
12vitamin d449.1IL1RN, PAH
13glycogen44 2410.1IL1RN, PAH
14adp44 28 2411.1BUB1B, MVK, GALK1
15Adenosine triphosphate24 1110.1GALK1, MVK, BUB1B
16atp44 2810.1MVK, IL1RN, GALK1
17norepinephrine44 24 1111.0PAH, IL1RN
18alanine448.9IL1RN, MVK, PAH
19phenylalanine448.9PAH, MVK, GALK1
20threonine448.4PAH, MVK, IL1RN, GALK1
21serine448.4IL1RN, MVK, PAH

GO Terms for genes affiliated with Mevalonic Aciduria

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Cellular components related to Mevalonic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.1GALK1, MVK, PAH, BUB1B

Biological processes related to Mevalonic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442818.6GALK1, MVK, PAH

Molecular functions related to Mevalonic Aciduria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055248.9GALK1, MVK, BUB1B

Products for genes affiliated with Mevalonic Aciduria

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Sources for Mevalonic Aciduria

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3CDC
13ExPASy
14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
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58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet