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

Aliases & Descriptions for Mevalonic Aciduria:

Name: Mevalonic Aciduria 54 12 50 25 56 66 29 13 14 69
Mevalonate Kinase Deficiency 12 50 24 25 42
Mevalonicaciduria 50 24 25
Hyperimmunoglobulin D with Periodic Fever 25 29
Hyperimmunoglobulinemia D 25 69
Complete Mevalonate Kinase Deficiency 56
Deficiency of Mevalonate Kinase 69
Periodic Fever, Dutch Type 25
Hyper Igd Syndrome 25
Mevalonate Kinase 13
Meva 66
Mva 56

Characteristics:

Orphanet epidemiological data:

56
mevalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

HPO:

32
mevalonic aciduria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610377
Disease Ontology 12 DOID:0050452
MeSH 42 D054078
NCIt 47 C84890
SNOMED-CT 64 124327008 234538002
Orphanet 56 ORPHA29
MESH via Orphanet 43 D054078
UMLS via Orphanet 70 C0342731 C1959626
ICD10 via Orphanet 34 E88.8
MedGen 40 C1959626

Summaries for Mevalonic Aciduria

NIH Rare Diseases : 50 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 ataxia, seizures and intellectual disability. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are cholesterol biosynthesis I and Pertussis. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related phenotypes are homeostasis/metabolism and integument

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

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 11.5
2 mosaic variegated aneuploidy syndrome 1 10.9
3 vaccinia 10.4
4 immunodeficiency 9 10.2 IL1RN MVK
5 malignant histiocytosis 10.2 MVK NLRP3
6 osteochondrodysplasia 10.1 HMGCR IL1B
7 cutaneous sclerosis 10.1 IL1RN NLRP3
8 amelanotic melanoma 10.1 IL1B NLRP3
9 muckle-wells syndrome 10.1 IL1B NLRP3
10 familial hyperthyroidism due to mutations in tsh receptor 10.1 IL1B NLRP3
11 cinca syndrome 10.1 IL1B NLRP3
12 gonadal disease 10.1 IL1RN NLRP3
13 hepatocellular carcinoma 10.1 IL1B IL1RN
14 dextrocardia 10.1 IL1B IL1RN
15 mental retardation hypotonia skin hyperpigmentation 10.1 IL1B IL1RN
16 benign neonatal seizures 10.1 IL1B IL1RN
17 wilkes stevenson syndrome 10.1 IL1B NLRP3
18 glossitis 10.1 IL1B IL1RN
19 autosomal recessive type iv ehlers-danlos syndrome 10.1 IL1B IL1RN
20 smallpox 10.1
21 hiv-1 10.1
22 oral cavity carcinoma in situ 10.1 IL1B IL1RN
23 keratoconus 10.1 IL1B IL1RN
24 motility-related diarrhea 10.1 IL1B IL1RN
25 nasal cavity cancer 10.0 IL1B IL1RN
26 multinodular goiter 10.0 IL1RN NLRP3
27 testicular leydig cell tumor 10.0 IL1B IL1RN
28 immunoglobulin g deficiency 10.0 IL1B IL1RN
29 retinal cancer 10.0 IL1B MVK NLRP3
30 meier-gorlin syndrome 3 10.0 IL1B MVK NLRP3
31 pyloric stenosis, infantile hypertrophic, 2 10.0 IL1B MVK NLRP3
32 childhood central nervous system mixed germ cell tumor 10.0 IL1B IL1RN
33 cowpox 10.0 IL1B IL1RN
34 baritosis 10.0 IL1B NLRP3
35 egg allergy 9.9 IL1B IL1RN NLRP3
36 warthin tumor 9.9 IL1B IL1RN NLRP3
37 bent bone dysplasia syndrome 9.9 DHCR24 SC5D
38 senile reticular retinal degeneration 9.9 IL1B IL1RN NLRP3
39 gonococcal endophthalmia 9.9 IL1B IL1RN NLRP3
40 skin conditions 9.9 IL1B IL1RN NLRP3
41 bone angioendothelial sarcoma 9.9 IL1B IL1RN NLRP3
42 intracranial hemorrhage in brain cerebrovascular malformations 9.9 IL1B IL1RN NLRP3
43 retinal vascular occlusion 9.9 IL1B IL1RN
44 malaria 9.9
45 classic type lipoma 9.8 IL1B IL1RN
46 encephalopathy 9.8
47 hypotonia 9.8
48 cerebellar ataxia 9.8
49 hyper-igd syndrome 9.8
50 phenylketonuria 9.8

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



Diseases related to Mevalonic Aciduria

Symptoms & Phenotypes for Mevalonic Aciduria

Symptoms by clinical synopsis from OMIM:

610377

Clinical features from OMIM:

610377

Human phenotypes related to Mevalonic Aciduria:

56 32 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
5 cataract 56 32 Frequent (79-30%) HP:0000518
6 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
7 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
8 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
9 microcephaly 56 32 Very frequent (99-80%) HP:0000252
10 short stature 56 32 Very frequent (99-80%) HP:0004322
11 dolichocephaly 56 32 Very frequent (99-80%) HP:0000268
12 cerebral cortical atrophy 56 32 Very frequent (99-80%) HP:0002120
13 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
14 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
15 large fontanelles 56 32 Very frequent (99-80%) HP:0000239
16 triangular face 56 32 Very frequent (99-80%) HP:0000325
17 blue sclerae 56 32 Frequent (79-30%) HP:0000592
18 arthralgia 32 HP:0002829
19 edema 32 HP:0000969
20 vomiting 32 HP:0002013
21 diarrhea 32 HP:0002014
22 low-set ears 32 HP:0000369
23 nystagmus 32 HP:0000639
24 failure to thrive 32 HP:0001508
25 elevated serum creatine phosphokinase 32 HP:0003236
26 elevated hepatic transaminases 32 HP:0002910
27 thrombocytopenia 32 HP:0001873
28 leukocytosis 32 HP:0001974
29 skin rash 32 HP:0000988
30 cerebellar atrophy 32 HP:0001272
31 lymphadenopathy 32 HP:0002716
32 kyphoscoliosis 32 HP:0002751
33 cerebral atrophy 32 HP:0002059
34 posteriorly rotated ears 32 HP:0000358
35 progressive cerebellar ataxia 32 HP:0002073
36 agenesis of cerebellar vermis 32 HP:0002335
37 normocytic hypoplastic anemia 32 HP:0004819
38 fluctuating splenomegaly 32 HP:0006268
39 fluctuating hepatomegaly 32 HP:0006564
40 aciduria 32 HP:0012072
41 morbilliform rash 32 HP:0012282

UMLS symptoms related to Mevalonic Aciduria:


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

MGI Mouse Phenotypes related to Mevalonic Aciduria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 DHCR24 GALK1 HMGCR IL1B IL1RN NLRP3
2 integument MP:0010771 9.02 DHCR24 IL1B IL1RN NLRP3 SC5D

Drugs & Therapeutics for Mevalonic Aciduria

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Antibodies, Monoclonal Phase 2
3 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2
2 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Unknown status NCT01568736
3 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
4 MEVALONATE KINASE GENE MUTATIONS AND THEIR CLINICAL CORRELATIONS IN BEHÇET'S DISEASE Completed NCT01780363

Search NIH Clinical Center for Mevalonic Aciduria

Cochrane evidence based reviews: mevalonate kinase deficiency

Genetic Tests for Mevalonic Aciduria

Genetic tests related to Mevalonic Aciduria:

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin D with Periodic Fever 29
2 Mevalonic Aciduria 29
3 Mevalonicaciduria 24 MVK

Anatomical Context for Mevalonic Aciduria

MalaCards organs/tissues related to Mevalonic Aciduria:

39
Skin, Liver, Spleen, Bone, Eye, Bone Marrow, Brain

Publications for Mevalonic Aciduria

Articles related to Mevalonic Aciduria:

(show all 39)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Mevalonic Aciduria:

66
id Symbol AA change Variation ID SNP ID
1 MVK p.His20Pro VAR_004022 rs104895295
2 MVK p.Ile268Thr VAR_004024 rs104895304
3 MVK p.Asn301Thr VAR_004025 rs28934896
4 MVK p.Ala334Thr VAR_004026 rs104895317
5 MVK p.Val310Met VAR_009068 rs104895319
6 MVK p.Thr243Ile VAR_010964 rs104895314
7 MVK p.Leu264Phe VAR_010965 rs104895315
8 MVK p.Leu265Pro VAR_010966 rs104895316

ClinVar genetic disease variations for Mevalonic Aciduria:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 MVK NM_000431.3(MVK): c.902A> C (p.Asn301Thr) single nucleotide variant Pathogenic rs121917789 GRCh37 Chromosome 12, 110032849: 110032849
2 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh37 Chromosome 12, 110034320: 110034320
3 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh37 Chromosome 12, 110032947: 110032947
4 MVK NM_000431.3(MVK): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs104895295 GRCh37 Chromosome 12, 110012686: 110012686
5 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh37 Chromosome 12, 110029080: 110029080
6 MVK NM_000431.3(MVK): c.494C> T (p.Pro165Leu) single nucleotide variant Pathogenic rs121917790 GRCh37 Chromosome 12, 110019322: 110019322
7 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh37 Chromosome 12, 110032875: 110032875
8 MVK NM_000431.3(MVK): c.16_34del19 (p.Leu6Glyfs) deletion Pathogenic rs104895334 GRCh37 Chromosome 12, 110012643: 110012661
9 MVK NM_000431.3(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104895300 GRCh37 Chromosome 12, 110019328: 110019328
10 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh37 Chromosome 12, 110023903: 110023903
11 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh37 Chromosome 12, 110019245: 110019245
12 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 GRCh37 Chromosome 12, 110012699: 110012699
13 MVK NM_000431.3(MVK): c.421dupG (p.Ala141Glyfs) duplication Pathogenic rs104895323 GRCh37 Chromosome 12, 110019249: 110019249
14 MVK NM_000431.3(MVK): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs104895360 GRCh37 Chromosome 12, 110034353: 110034353
15 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic rs104895382 GRCh37 Chromosome 12, 110017726: 110017726
16 MVK NM_000431.3(MVK): c.442G> A (p.Ala148Thr) single nucleotide variant Pathogenic rs104895298 GRCh37 Chromosome 12, 110019270: 110019270
17 MVK NM_000431.3(MVK): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs104895311 GRCh37 Chromosome 12, 110023863: 110023863
18 MVK NM_000431.3(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic rs104895332 GRCh37 Chromosome 12, 110023907: 110023907
19 MVK NM_000431.3(MVK): c.709A> T (p.Thr237Ser) single nucleotide variant Pathogenic rs104895366 GRCh37 Chromosome 12, 110028607: 110028607

Expression for Mevalonic Aciduria

Search GEO for disease gene expression data for Mevalonic Aciduria.

GO Terms for Mevalonic Aciduria

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 DHCR24 HMGCR IL1RN MVK SC5D
2 inflammatory response GO:0006954 9.7 IL1B IL1RN NLRP3
3 cholesterol metabolic process GO:0008203 9.65 DHCR24 HMGCR MVK
4 negative regulation of MAP kinase activity GO:0043407 9.51 HMGCR IL1B
5 cholesterol biosynthetic process GO:0006695 9.5 DHCR24 HMGCR MVK
6 isoprenoid biosynthetic process GO:0008299 9.49 HMGCR MVK
7 cholesterol biosynthetic process via desmosterol GO:0033489 9.46 DHCR24 SC5D
8 steroid metabolic process GO:0008202 9.46 DHCR24 HMGCR MVK SC5D
9 cholesterol biosynthetic process via lathosterol GO:0033490 9.43 DHCR24 SC5D
10 regulation of cholesterol biosynthetic process GO:0045540 9.43 HMGCR MVK SC5D
11 interleukin-1 beta production GO:0032611 9.4 IL1B NLRP3
12 steroid biosynthetic process GO:0006694 9.26 DHCR24 HMGCR MVK SC5D
13 sterol biosynthetic process GO:0016126 8.92 DHCR24 HMGCR MVK SC5D

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

id Name GO ID Score Top Affiliating Genes
1 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.96 GALK1 MVK
2 interleukin-1 receptor binding GO:0005149 8.62 IL1B IL1RN

Sources for Mevalonic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....