MCID: MVL001
MIFTS: 63

Mevalonic Aciduria malady

Genetic diseases, Rare diseases, Eye diseases, Metabolic diseases categories

Summaries for Mevalonic Aciduria

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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 based summary: Mevalonic Aciduria, also known as hyperimmunoglobulin d with periodic fever, is related to hyper-igd syndrome and cataract, and has symptoms including abnormality of the fontanelles or cranial sutures, microcephaly and dolichocephaly. 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:23 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.

OMIM:47 Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of... (610377) more...

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

Aliases & Classifications for Mevalonic Aciduria

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 49Orphanet, 24GTR, 62UMLS, 22GeneTests, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mevalonic Aciduria, Aliases & Descriptions:

Name: Mevalonic Aciduria 47 10 11 43 23 12 49 24 62
Hyperimmunoglobulin D with Periodic Fever 23 24 62
Mevalonate Kinase Deficiency 10 43 23
Mevalonicaciduria 43 22 23
Complete Mevalonate Kinase Deficiency 43 49
Hyperimmunoglobulinemia D 23 62
Mva 43 49
 
Disorder of Lipid Absorption and Transport 43
Mosaic Variegated Aneuploidy Syndrome 62
Deficiency of Mevalonate Kinase 62
Periodic Fever, Dutch Type 23
Hyper-Igd Syndrome 62
Hyper Igd Syndrome 23
Mevalonate Kinase 11


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal


External Ids:

OMIM47 610377
Disease Ontology10 DOID:0050452
MeSH35 D054078
Orphanet49 29
MESH via Orphanet36 D054078
ICD10 via Orphanet28 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:

 49 (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:

Search ClinicalTrials for Mevalonic Aciduria

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 Mevalonicaciduria22 MVK
2 Hyperimmunoglobulin D with Periodic Fever24
3 Mevalonic Aciduria24

Anatomical Context for Mevalonic Aciduria

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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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MGI Mouse Phenotypes related to Mevalonic Aciduria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6IL1RN, PAH, BUB1B
2MP:00053918.2GALK1, BUB1B, PAH
3MP:00053767.9PAH, BUB1B, GALK1, IL1RN

Publications for Mevalonic Aciduria

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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
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
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
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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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:

7 (show all 16)
id Gene Variation 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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Search GEO for disease gene expression data for Mevalonic Aciduria.

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
1anakinra45 1310.8MVK, IL1RN
2homoserine459.7MVK, GALK1
3phosphomevalonate459.7MVK, GALK1
4mgatp459.7GALK1, MVK
5mevalonate459.7GALK1, MVK
6simvastatin45 51 61 30 26 1314.7MVK, IL1RN
7mannose459.5IL1RN, GALK1
8neopterin459.4IL1RN, PAH
9galactose-1-phosphate459.3GALK1, PAH
10histidine459.3MVK, PAH
11epinephrine45 26 1311.2IL1RN, PAH
12vitamin d459.1IL1RN, PAH
13glycogen45 2610.1PAH, IL1RN
14adp45 30 2611.1BUB1B, GALK1, MVK
15Adenosine triphosphate26 1310.1GALK1, MVK, BUB1B
16atp45 3010.1MVK, GALK1, IL1RN
17norepinephrine45 26 1311.0IL1RN, PAH
18alanine458.9PAH, MVK, IL1RN
19phenylalanine458.9GALK1, PAH, MVK
20threonine458.4PAH, GALK1, IL1RN, MVK
21serine458.4PAH, MVK, IL1RN

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:00058298.1GALK1, MVK, PAH, BUB1B

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

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442818.6GALK1, MVK, PAH

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055248.9GALK1, MVK, BUB1B

Products for genes affiliated with Mevalonic Aciduria

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Sources for Mevalonic Aciduria

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet