MEVA
MCID: MVL001
MIFTS: 56

Mevalonic Aciduria (MEVA) 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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mevalonic Aciduria:

Name: Mevalonic Aciduria 52 11 48 25 54 70 27 12 13 68
Mevalonate Kinase Deficiency 11 48 24 25 39
Mevalonicaciduria 48 24 25
Hyperimmunoglobulin D with Periodic Fever 25 27
Hyperimmunoglobulinemia D 25 68
Complete Mevalonate Kinase Deficiency 54
 
Deficiency of Mevalonate Kinase 68
Periodic Fever, Dutch Type 25
Hyper Igd Syndrome 25
Mevalonate Kinase 12
Meva 70
Mva 54

Characteristics:

Orphanet epidemiological data:

54
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal

HPO:

64
mevalonic aciduria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 610377
Disease Ontology11 DOID:0050452
MeSH39 D054078
NCIt45 C84890
Orphanet54 ORPHA29
MESH via Orphanet40 D054078
UMLS via Orphanet69 C0342731, C1959626
ICD10 via Orphanet31 E88.8
MedGen37 C1959626

Summaries for Mevalonic Aciduria

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NIH Rare Diseases:48 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 mosaic variegated aneuploidy syndrome and mosaic variegated aneuploidy syndrome 1, and has symptoms including abdominal pain, abdominal pain and arthralgia. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways are Pertussis and IL1 and megakaryocytes in obesity. 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:52 Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of... (610377) more...

UniProtKB/Swiss-Prot:70 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:71 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 81)
idRelated DiseaseScoreTop Affiliating Genes
1mosaic variegated aneuploidy syndrome11.5
2mosaic variegated aneuploidy syndrome 110.9
3vaccinia10.4
4immunodeficiency 910.2IL1RN, MVK
5malignant histiocytosis10.2MVK, NLRP3
6osteochondrodysplasia10.1HMGCR, IL1B
7cutaneous sclerosis10.1IL1RN, NLRP3
8amelanotic melanoma10.1IL1B, NLRP3
9muckle-wells syndrome10.1IL1B, NLRP3
10familial hyperthyroidism due to mutations in tsh receptor10.1IL1B, NLRP3
11cinca syndrome10.1IL1B, NLRP3
12gonadal disease10.1IL1RN, NLRP3
13hepatocellular carcinoma10.1IL1B, IL1RN
14dextrocardia10.1IL1B, IL1RN
15mental retardation hypotonia skin hyperpigmentation10.1IL1B, IL1RN
16benign neonatal seizures10.1IL1B, IL1RN
17wilkes stevenson syndrome10.1IL1B, NLRP3
18glossitis10.1IL1B, IL1RN
19autosomal recessive type iv ehlers-danlos syndrome10.1IL1B, IL1RN
20hiv-110.1
21smallpox10.1
22oral cavity carcinoma in situ10.1IL1B, IL1RN
23keratoconus10.1IL1B, IL1RN
24motility-related diarrhea10.1IL1B, IL1RN
25nasal cavity cancer10.0IL1B, IL1RN
26multinodular goiter10.0IL1RN, NLRP3
27testicular leydig cell tumor10.0IL1B, IL1RN
28immunoglobulin g deficiency10.0IL1B, IL1RN
29retinal cancer10.0IL1B, MVK, NLRP3
30meier-gorlin syndrome 310.0IL1B, MVK, NLRP3
31pyloric stenosis, infantile hypertrophic, 210.0IL1B, MVK, NLRP3
32childhood central nervous system mixed germ cell tumor10.0IL1B, IL1RN
33baritosis10.0IL1B, NLRP3
34cowpox10.0IL1B, IL1RN
35egg allergy9.9IL1B, IL1RN, NLRP3
36warthin tumor9.9IL1B, IL1RN, NLRP3
37bent bone dysplasia syndrome9.9DHCR24, SC5D
38senile reticular retinal degeneration9.9IL1B, IL1RN, NLRP3
39gonococcal endophthalmia9.9IL1B, IL1RN, NLRP3
40skin conditions9.9IL1B, IL1RN, NLRP3
41bone angioendothelial sarcoma9.9IL1B, IL1RN, NLRP3
42intracranial hemorrhage in brain cerebrovascular malformations9.9IL1B, IL1RN, NLRP3
43retinal vascular occlusion9.9IL1B, IL1RN
44malaria9.9
45classic type lipoma9.8IL1B, IL1RN
46cerebellar ataxia9.8
47hyper-igd syndrome9.8
48phenylketonuria9.8
49cataract9.8
50hematopoietic stem cell transplantation9.8

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



Diseases related to mevalonic aciduria

Symptoms & Phenotypes 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:

 54 64 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 large fontanelles64 54 Very frequent (99-80%) HP:0000239
2 microcephaly64 54 Very frequent (99-80%) HP:0000252
3 dolichocephaly64 54 Very frequent (99-80%) HP:0000268
4 triangular face64 54 Very frequent (99-80%) HP:0000325
5 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
6 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
7 cataract64 54 Frequent (79-30%) HP:0000518
8 blue sclerae64 54 Frequent (79-30%) HP:0000592
9 intellectual disability64 54 Very frequent (99-80%) HP:0001249
10 seizures64 54 Very frequent (99-80%) HP:0001250
11 ataxia64 54 Frequent (79-30%) HP:0001251
12 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
13 global developmental delay64 54 Very frequent (99-80%) HP:0001263
14 splenomegaly64 54 Very frequent (99-80%) HP:0001744
15 cerebral cortical atrophy64 54 Very frequent (99-80%) HP:0002120
16 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
17 short stature64 54 Very frequent (99-80%) HP:0004322
18 posteriorly rotated ears64 HP:0000358
19 low-set ears64 HP:0000369
20 nystagmus64 HP:0000639
21 edema64 HP:0000969
22 skin rash64 HP:0000988
23 cerebellar atrophy64 HP:0001272
24 failure to thrive64 HP:0001508
25 thrombocytopenia64 HP:0001873
26 leukocytosis64 HP:0001974
27 vomiting64 HP:0002013
28 diarrhea64 HP:0002014
29 cerebral atrophy64 HP:0002059
30 progressive cerebellar ataxia64 HP:0002073
31 agenesis of cerebellar vermis64 HP:0002335
32 lymphadenopathy64 HP:0002716
33 kyphoscoliosis64 HP:0002751
34 arthralgia64 HP:0002829
35 elevated hepatic transaminases64 HP:0002910
36 elevated serum creatine phosphokinase64 HP:0003236
37 normocytic hypoplastic anemia64 HP:0004819
38 fluctuating splenomegaly64 HP:0006268
39 fluctuating hepatomegaly64 HP:0006564
40 aciduria64 HP:0012072
41 morbilliform rash64 HP:0012282

UMLS symptoms related to Mevalonic Aciduria:


abdominal pain, arthralgia, diarrhea, headache, vomiting, edema

MGI Mouse Phenotypes related to Mevalonic Aciduria according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.5DHCR24, IL1B, IL1RN, NLRP3, SC5D
2MP:00053767.5DHCR24, GALK1, HMGCR, IL1B, IL1RN, NLRP3

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 26394
2Antibodies, MonoclonalPhase 24039
3AntibodiesPhase 26394

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 Fever27
2 Mevalonic Aciduria27
3 Mevalonicaciduria24 MVK

Anatomical Context for Mevalonic Aciduria

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MalaCards organs/tissues related to Mevalonic Aciduria:

36
Skin, Liver, Spleen, Bone, Eye, Bone marrow, Brain

Publications for Mevalonic Aciduria

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Articles related to Mevalonic Aciduria:

(show all 39)
idTitleAuthorsYear
1
Mevalonolactone disrupts mitochondrial functions and induces permeability transition pore opening in rat brain mitochondria: Implications for the pathogenesis of mevalonic aciduria. (28284974)
2017
2
Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. (22405037)
2012
3
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. (23146290)
2012
4
Retinitis pigmentosa and punctate cataracts in mevalonic aciduria. (25390116)
2010
5
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. (19504350)
2009
6
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. (20027140)
2009
7
Abnormal prenatal ultrasound findings in mevalonic aciduria. (18264963)
2008
8
The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria. (18037572)
2008
9
Mevalonic aciduria cured by bone marrow transplantation. (17898110)
2007
10
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. (17442628)
2007
11
Mevalonic aciduria: report of two cases. (17578678)
2007
12
Allogeneic bone marrow transplantation in mevalonic aciduria. (17596604)
2007
13
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. (16722536)
2006
14
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria. (16435209)
2005
15
Novel genotype of mevalonic aciduria with fatalities in premature siblings. (14711867)
2004
16
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria. (12162608)
2002
17
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. (11313768)
2001
18
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? (11486910)
2001
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
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. (10896295)
2000
21
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. (10401001)
1999
22
Probing cataractogenesis associated with mevalonic aciduria. (9523093)
1998
23
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. (9266363)
1997
24
Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. (9323576)
1997
25
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. (8386351)
1993
26
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. (8352861)
1993
27
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. (8261631)
1993
28
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (1377680)
1992
29
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. (1331607)
1992
30
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
31
Mevalonic aciduria. (1653382)
1991
32
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
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
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. (3141709)
1988
37
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. (2846965)
1988
38
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. (3012338)
1986
39
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:

70
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
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.928G> A (p.Val310Met)SNVPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
7MVKNM_ 000431.3(MVK): c.16_ 34del19 (p.Leu6Glyfs)deletionPathogenicrs104895334GRCh37Chr 12, 110012643: 110012661
8MVKNM_ 000431.3(MVK): c.604G> A (p.Gly202Arg)SNVPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
9MVKNM_ 000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245
10MVKNM_ 000431.3(MVK): c.72dupT (p.Gly25Trpfs)duplicationPathogenicrs104895322GRCh37Chr 12, 110012699: 110012699

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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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 13)
idNameGO IDScoreTop Affiliating Genes
1isoprenoid biosynthetic processGO:000829910.4HMGCR, MVK
2interleukin-1 beta productionGO:003261110.2IL1B, NLRP3
3negative regulation of MAP kinase activityGO:004340710.2HMGCR, IL1B
4cholesterol biosynthetic processGO:00066959.9DHCR24, HMGCR, MVK
5cholesterol metabolic processGO:00082039.8DHCR24, HMGCR, MVK
6cholesterol biosynthetic process via desmosterolGO:00334899.7DHCR24, SC5D
7cholesterol biosynthetic process via lathosterolGO:00334909.7DHCR24, SC5D
8inflammatory responseGO:00069549.7IL1B, IL1RN, NLRP3
9regulation of cholesterol biosynthetic processGO:00455409.5HMGCR, MVK, SC5D
10steroid biosynthetic processGO:00066948.9DHCR24, HMGCR, MVK, SC5D
11steroid metabolic processGO:00082028.7DHCR24, HMGCR, MVK, SC5D
12lipid metabolic processGO:00066298.4DHCR24, HMGCR, IL1RN, MVK, SC5D
13sterol biosynthetic processGO:00161268.3DHCR24, HMGCR, MVK, SC5D

Molecular functions related to Mevalonic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor bindingGO:00051499.8IL1B, IL1RN
2phosphotransferase activity, alcohol group as acceptorGO:00167739.7GALK1, MVK

Sources for Mevalonic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet