MCID: MVL001
MIFTS: 54

Mevalonic Aciduria malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Mevalonic Aciduria

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mevalonic Aciduria:

Name: Mevalonic Aciduria 51 11 47 25 53 69 26 12 13 67
Mevalonate Kinase Deficiency 11 47 24 25 38
Mevalonicaciduria 47 24 25
Hyperimmunoglobulin D with Periodic Fever 25 26
Hyperimmunoglobulinemia D 25 67
Complete Mevalonate Kinase Deficiency 53
 
Deficiency of Mevalonate Kinase 67
Periodic Fever, Dutch Type 25
Hyper Igd Syndrome 25
Mevalonate Kinase 12
Meva 69
Mva 53

Characteristics:

Orphanet epidemiological data:

53
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal

HPO:

63
mevalonic aciduria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 610377
Disease Ontology11 DOID:0050452
MeSH38 D054078
NCIt44 C84890
Orphanet53 ORPHA29
MESH via Orphanet39 D054078
UMLS via Orphanet68 C0342731, C1959626
ICD10 via Orphanet30 E88.8
MedGen36 C1959626

Summaries for Mevalonic Aciduria

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NIH Rare Diseases:47 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 mosaic variegated aneuploidy syndrome 1, and has symptoms including microcephaly, dolichocephaly and triangular face. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways are Pertussis and cholesterol biosynthesis I. Affiliated tissues include skin, liver and spleen, and related mouse phenotypes are integument and homeostasis/metabolism.

Genetics Home Reference:25 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:51 Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of... (610377) more...

UniProtKB/Swiss-Prot:69 Mevalonic aciduria: Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.

Wikipedia:70 Mevalonate kinase deficiency, also called mevalonic aciduria and hyper immunoglobin D syndrome is an... more...

Related Diseases for Mevalonic Aciduria

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Diseases related to Mevalonic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-igd syndrome26.8DHCR24, GALK1, HMGCR, IL1RN, MVK, NLRP3
2mosaic variegated aneuploidy syndrome 110.9
3mosaic variegated aneuploidy syndrome10.8
4vaccinia10.4
5porokeratosis 3, disseminated superficial actinic10.3IL1RN, MVK
6cervix disease10.3HMGCR, IL1B
7carbon baby syndrome10.2IL1RN, NLRP3
8lymphocele10.2IL1B, NLRP3
9familial cold-induced inflammatory syndrome 110.2IL1B, NLRP3
10familial dupuytren contracture10.2IL1B, NLRP3
11pharyngitis10.2IL1RN, NLRP3
12muckle-wells syndrome10.2IL1B, NLRP3
13gastric cancer risk after h. pylori infection10.2IL1B, IL1RN
14mental retardation anophthalmia craniosynostosis10.2IL1B, IL1RN
15peri-anal fistula10.1IL1B, IL1RN
16non-secretory myeloma10.1IL1B, IL1RN
17early congenital syphilis10.1IL1RN, NLRP3
18oral candidiasis10.1IL1B, IL1RN
19keloids10.1IL1B, IL1RN
20anaerobic meningitis10.1IL1B, IL1RN
21senile cataract10.1IL1B, IL1RN
22osmotic diarrhea10.1IL1B, IL1RN
23askin's tumor10.1IL1B, IL1RN
24tibialis tendinitis10.1IL1B, IL1RN
25histiocytoid hemangioma10.1IL1B, IL1RN
26hiv-110.1
27smallpox10.1
28pediatric supratentorial ependymoma10.1IL1B, IL1RN
29retroperitoneal fibrosis10.1IL1B, IL1RN
30partial of retinal vein occlusion10.0IL1B, IL1RN
31asbestosis10.0IL1B, NLRP3
32evans' syndrome10.0IL1B, IL1RN
33hypersensitivity reaction type iii disease10.0IL1RN, NLRP3
34lymphangioma10.0IL1B, IL1RN
35pleomorphic lipoma10.0IL1B, IL1RN
36suppurative lymphadenitis9.9IL1B, MVK, NLRP3
37sternum lymphoma9.9IL1B, IL1RN
38meier-gorlin syndrome 39.9IL1B, MVK, NLRP3
39pyloric stenosis, infantile hypertrophic, 29.9IL1B, MVK, NLRP3
40xanthomatosis9.9IL1B, IL1RN
41sheehan syndrome9.9IL1B, NLRP3
42malaria9.9
43cerebellar ataxia9.8
44phenylketonuria9.8
45cataract9.8
46hematopoietic stem cell transplantation9.8
47retinitis pigmentosa9.8
48thrombocytopenia9.8
49retinitis9.8
50intestinal obstruction9.8

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

Human phenotypes related to Mevalonic Aciduria:

 63 53 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 dolichocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000268
3 triangular face63 53 hallmark (90%) Very frequent (99-80%) HP:0000325
4 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
5 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
6 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
7 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
8 cerebral cortical atrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0002120
9 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
10 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
11 cognitive impairment63 hallmark (90%) HP:0100543
12 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
13 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
14 blue sclerae63 53 typical (50%) Frequent (79-30%) HP:0000592
15 incoordination63 typical (50%) HP:0002311
16 kyphoscoliosis63 rare (5%) HP:0002751
17 large fontanelles63 53 Very frequent (99-80%) HP:0000239
18 posteriorly rotated ears63 HP:0000358
19 low-set ears63 HP:0000369
20 nystagmus63 HP:0000639
21 edema63 HP:0000969
22 skin rash63 HP:0000988
23 global developmental delay63 53 Very frequent (99-80%) HP:0001263
24 cerebellar atrophy63 HP:0001272
25 failure to thrive63 HP:0001508
26 thrombocytopenia63 HP:0001873
27 leukocytosis63 HP:0001974
28 vomiting63 HP:0002013
29 diarrhea63 HP:0002014
30 cerebral atrophy63 HP:0002059
31 progressive cerebellar ataxia63 HP:0002073
32 agenesis of cerebellar vermis63 HP:0002335
33 lymphadenopathy63 HP:0002716
34 arthralgia63 HP:0002829
35 elevated hepatic transaminases63 HP:0002910
36 elevated serum creatine phosphokinase63 HP:0003236
37 normocytic hypoplastic anemia63 HP:0004819
38 fluctuating splenomegaly63 HP:0006268
39 fluctuating hepatomegaly63 HP:0006564
40 aciduria63 HP:0012072
41 morbilliform rash63 HP:0012282
42 intellectual disability53 Very frequent (99-80%)
43 ataxia53 Frequent (79-30%)

UMLS symptoms related to Mevalonic Aciduria:


abdominal pain, arthralgia, diarrhea, exanthema, headache, vomiting, macular rash, erythema scarlatiniforme, mucocutaneous rash, nodular rash

Drugs & Therapeutics for Mevalonic Aciduria

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Drugs for Mevalonic Aciduria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ImmunoglobulinsPhase 26045
2Antibodies, MonoclonalPhase 23795
3AntibodiesPhase 26045

Interventional clinical trials:

idNameStatusNCT IDPhase
1Canakinumab in Patients With Active Hyper-IgD SyndromeCompletedNCT01303380Phase 2
2B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase DeficiencyUnknown statusNCT01568736
3Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase DeficiencyUnknown statusNCT00260299
4MEVALONATE KINASE GENE MUTATIONS AND THEIR CLINICAL CORRELATIONS IN BEHÇET'S DISEASECompletedNCT01780363

Search NIH Clinical Center for Mevalonic Aciduria


Cochrane evidence based reviews: mevalonate kinase deficiency

Genetic Tests for Mevalonic Aciduria

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Genetic tests related to Mevalonic Aciduria:

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin D with Periodic Fever26
2 Mevalonic Aciduria26
3 Mevalonicaciduria24 MVK

Anatomical Context for Mevalonic Aciduria

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MalaCards organs/tissues related to Mevalonic Aciduria:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.5DHCR24, IL1B, IL1RN, NLRP3, SC5D
2MP:00053767.5DHCR24, GALK1, HMGCR, IL1B, IL1RN, NLRP3

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
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. (20027140)
2009
5
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. (19504350)
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
Allogeneic bone marrow transplantation in mevalonic aciduria. (17596604)
2007
9
Mevalonic aciduria cured by bone marrow transplantation. (17898110)
2007
10
Mevalonic aciduria: report of two cases. (17578678)
2007
11
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. (17442628)
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
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. (9266363)
1997
23
Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. (9323576)
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: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. (2846965)
1988
35
Mevalonic aciduria. (3338715)
1988
36
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. (3365255)
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:

69
id Symbol AA change Variation ID SNP ID
1MVKp.His20ProVAR_004022rs104895295
2MVKp.Ile268ThrVAR_004024rs104895304
3MVKp.Asn301ThrVAR_004025rs28934896
4MVKp.Ala334ThrVAR_004026rs104895317
5MVKp.Val310MetVAR_009068rs104895319
6MVKp.Thr243IleVAR_010964rs104895314
7MVKp.Leu264PheVAR_010965rs104895315
8MVKp.Leu265ProVAR_010966rs104895316

Clinvar genetic disease variations for Mevalonic Aciduria:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.902A> C (p.Asn301Thr)SNVPathogenicrs121917789GRCh37Chr 12, 110032849: 110032849
2MVKNM_000431.3(MVK): c.1129G> A (p.Val377Ile)SNVPathogenicrs28934897GRCh37Chr 12, 110034320: 110034320
3MVKNM_000431.3(MVK): c.1000G> A (p.Ala334Thr)SNVPathogenicrs104895317GRCh37Chr 12, 110032947: 110032947
4MVKNM_000431.3(MVK): c.59A> C (p.His20Pro)SNVPathogenicrs104895295GRCh37Chr 12, 110012686: 110012686
5MVKNM_000431.3(MVK): c.803T> C (p.Ile268Thr)SNVPathogenicrs104895304GRCh37Chr 12, 110029080: 110029080
6MVKNM_000431.3(MVK): c.494C> T (p.Pro165Leu)SNVPathogenicrs121917790GRCh37Chr 12, 110019322: 110019322
7MVKNM_000431.3(MVK): c.928G> A (p.Val310Met)SNVPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
8MVKNM_000431.3(MVK): c.16_34del (p.Leu6Glyfs)deletionPathogenicrs104895334GRCh38Chr 12, 109574838: 109574856
9MVKNM_000431.3(MVK): c.500C> T (p.Pro167Leu)SNVPathogenicrs104895300GRCh37Chr 12, 110019328: 110019328
10MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)SNVPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
11MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245
12MVKNM_000431.3(MVK): c.72dupT (p.Gly25Trpfs)duplicationPathogenicrs104895322GRCh37Chr 12, 110012699: 110012699
13MVKNM_000431.3(MVK): c.421dupG (p.Ala141Glyfs)duplicationPathogenicrs104895323GRCh37Chr 12, 110019249: 110019249
14MVKNM_000431.3(MVK): c.1162C> T (p.Arg388Ter)SNVPathogenicrs104895360GRCh37Chr 12, 110034353: 110034353
15MVKNM_000431.3(MVK): c.346T> C (p.Tyr116His)SNVPathogenicrs104895382GRCh37Chr 12, 110017726: 110017726
16MVKNM_000431.3(MVK): c.442G> A (p.Ala148Thr)SNVPathogenicrs104895298GRCh37Chr 12, 110019270: 110019270
17MVKNM_000431.3(MVK): c.564G> A (p.Trp188Ter)SNVPathogenicrs104895311GRCh37Chr 12, 110023863: 110023863
18MVKNM_000431.3(MVK): c.608T> C (p.Val203Ala)SNVPathogenicrs104895332GRCh37Chr 12, 110023907: 110023907

Expression for genes affiliated with Mevalonic Aciduria

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Search GEO for disease gene expression data for Mevalonic Aciduria.

GO Terms for genes affiliated with Mevalonic Aciduria

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Biological processes related to Mevalonic Aciduria according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1isoprenoid biosynthetic processGO:000829910.0HMGCR, MVK
2negative regulation of inflammatory responseGO:00507289.9MVK, NLRP3
3interleukin-1 beta productionGO:00326119.8IL1B, NLRP3
4negative regulation of MAP kinase activityGO:00434079.7HMGCR, IL1B
5cholesterol biosynthetic processGO:00066959.1DHCR24, HMGCR, MVK
6cholesterol biosynthetic process via lathosterolGO:00334908.9DHCR24, SC5D
7cholesterol biosynthetic process via desmosterolGO:00334898.7DHCR24, SC5D

Sources for Mevalonic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet