MCID: MVL001
MIFTS: 54

Mevalonic Aciduria

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

Aliases & Classifications for Mevalonic Aciduria

MalaCards integrated aliases for Mevalonic Aciduria:

Name: Mevalonic Aciduria 57 12 53 25 59 75 29 13 6 15 73
Mevalonate Kinase Deficiency 12 76 25 37 44
Hyperimmunoglobulin D with Periodic Fever 25 29 6
Mevalonicaciduria 76 53 25
Complete Mevalonate Kinase Deficiency 53 59
Hyperimmunoglobulinemia D 25 73
Meva 57 75
Mva 53 59
Deficiency of Mevalonate Kinase 73
Periodic Fever, Dutch Type 25
Aciduria, Mevalonic 40
Hyper Igd Syndrome 25
Mevalonate Kinase 13

Characteristics:

Orphanet epidemiological data:

59
mevalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea
onset of crises in early childhood
febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)
rash, edema, and arthralgia may occur during crisis
allelic to hyperimmunoglobulinemia d syndrome (hids, )


HPO:

32
mevalonic aciduria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mevalonic Aciduria

NIH Rare Diseases : 53 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 inheritedmutations 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). 

MalaCards based summary : Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and mosaic variegated aneuploidy syndrome, and has symptoms including abdominal pain, arthralgia and diarrhea. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Metabolism. 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 intellectual disability and seizures

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 : 57 Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003). (610377)

UniProtKB/Swiss-Prot : 75 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 : 76 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 64)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 32.3 IL1RN MVK
2 mosaic variegated aneuploidy syndrome 11.8
3 mosaic variegated aneuploidy syndrome 1 11.4
4 peho syndrome 11.1
5 mosaic variegated aneuploidy syndrome 3 10.9
6 vaccinia 10.6
7 cervical adenitis 10.2 MVK NLRP3
8 periodic fever, familial, autosomal dominant 10.2 MVK NLRP3
9 smallpox 10.2
10 blau syndrome 10.2 MVK NLRP3
11 pyoderma gangrenosum 10.1 MVK NLRP3
12 methylmalonic aciduria, cblb type 10.1 MMAB MVK
13 malaria 10.0
14 mucositis 10.0
15 cryopyrin-associated periodic syndrome 9.9 IL1RN NLRP3
16 influenza 9.9
17 vulvar vestibulitis syndrome 9.9 IL1RN NLRP3
18 phenylketonuria 9.9
19 retinitis pigmentosa 9.9
20 aceruloplasminemia 9.9
21 leber congenital amaurosis 4 9.9
22 ataxia-oculomotor apraxia 3 9.9
23 cataract 9.9
24 hematopoietic stem cell transplantation 9.9
25 thrombocytopenia 9.9
26 retinitis 9.9
27 intestinal obstruction 9.9
28 encephalopathy 9.9
29 hypotonia 9.9
30 schnitzler syndrome 9.9 IL1RN NLRP3
31 dermatitis, atopic 9.9
32 dermatitis 9.9
33 monkeypox 9.9
34 aseptic meningitis 9.8 IL1RN NLRP3
35 aphthous stomatitis 9.8 IL1RN NLRP3
36 exanthem 9.7 IL1RN NLRP3
37 leukemia, chronic lymphocytic 2 9.7
38 colorectal cancer 9.7
39 multiple sclerosis 9.7
40 renal cell carcinoma, nonpapillary 9.7
41 leukemia, chronic lymphocytic 9.7
42 prostate cancer 9.7
43 allergic rhinitis 9.7
44 hepatitis c virus 9.7
45 hepatitis 9.7
46 leukemia 9.7
47 chikungunya 9.7
48 plasmodium vivax malaria 9.7
49 plasmodium falciparum malaria 9.7
50 prostatitis 9.7

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



Diseases related to Mevalonic Aciduria

Symptoms & Phenotypes for Mevalonic Aciduria

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive

Growth Height:
short stature

Skin Nails Hair Skin:
edema
morbilliform rash

Head And Neck Face:
triangular face

Laboratory Abnormalities:
elevated transaminases
elevated serum creatine kinase
serum cholesterol low or normal
elevated leukotriene e(4)
decreased ubiquinone-10
more
Skeletal Spine:
kyphoscoliosis (in some patients)

AbdomenSpleen:
fluctuating splenomegaly

Head And Neck Eyes:
nystagmus
blue sclerae
downslanting palpebral fissures
central cataracts
nuclear cataract (in some patients) retinal dystrophy (in some patients)
more
Head And Neck Head:
microcephaly
dolichocephaly
wide, irregular fontanels

Abdomen Gastrointestinal:
vomiting
diarrhea

Hematology:
thrombocytopenia
leukocytosis
normocytic hypoplastic anemia

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
agenesis of cerebellar vermis
developmental delay
hypotonia
more
Skeletal Limbs:
arthralgias

Abdomen Liver:
fluctuating hepatomegaly

Immunology:
elevated igd


Clinical features from OMIM:

610377

Human phenotypes related to Mevalonic Aciduria:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
8 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
12 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
13 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
14 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
15 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
16 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
17 blue sclerae 59 32 frequent (33%) Frequent (79-30%) HP:0000592
18 low-set ears 32 HP:0000369
19 nystagmus 32 HP:0000639
20 failure to thrive 32 HP:0001508
21 vomiting 32 HP:0002013
22 arthralgia 32 HP:0002829
23 elevated serum creatine phosphokinase 32 HP:0003236
24 edema 32 HP:0000969
25 elevated hepatic transaminases 32 HP:0002910
26 thrombocytopenia 32 HP:0001873
27 leukocytosis 32 HP:0001974
28 diarrhea 32 HP:0002014
29 progressive cerebellar ataxia 32 HP:0002073
30 cerebellar atrophy 32 HP:0001272
31 lymphadenopathy 32 HP:0002716
32 kyphoscoliosis 32 occasional (7.5%) HP:0002751
33 cerebral atrophy 32 HP:0002059
34 generalized hypotonia 32 HP:0001290
35 posteriorly rotated ears 32 HP:0000358
36 agenesis of cerebellar vermis 32 HP:0002335
37 fluctuating hepatomegaly 32 HP:0006564
38 fluctuating splenomegaly 32 HP:0006268
39 morbilliform rash 32 HP:0012282
40 normocytic hypoplastic anemia 32 HP:0004819
41 aciduria 32 HP:0012072

UMLS symptoms related to Mevalonic Aciduria:


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

GenomeRNAi Phenotypes related to Mevalonic Aciduria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 HMGCR MMAB MVK

Drugs & Therapeutics for Mevalonic Aciduria

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


# 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:


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

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:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin D with Periodic Fever 29 MVK
2 Mevalonic Aciduria 29 MVK

Anatomical Context for Mevalonic Aciduria

MalaCards organs/tissues related to Mevalonic Aciduria:

41
Skin, Liver, Spleen, Bone, Eye, Bone Marrow, Brain

Publications for Mevalonic Aciduria

Articles related to Mevalonic Aciduria:

(show all 39)
# 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
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. ( 23146290 )
2012
3
Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. ( 22405037 )
2012
4
Retinitis pigmentosa and punctate cataracts in mevalonic aciduria. ( 25390116 )
2010
5
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. ( 20027140 )
2009
6
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. ( 19504350 )
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
Allogeneic bone marrow transplantation in mevalonic aciduria. ( 17596604 )
2007
11
Mevalonic aciduria: report of two cases. ( 17578678 )
2007
12
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. ( 17442628 )
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
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
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. ( 8386351 )
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
Mevalonic aciduria. ( 1653382 )
1991
31
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
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
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. ( 3141709 )
1988
34
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. ( 3365255 )
1988
35
Mevalonic aciduria. ( 3338715 )
1988
36
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. ( 2850914 )
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:

75
# 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 rs121917789
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 top 50) (show all 108)
# 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.902A> C (p.Asn301Thr) single nucleotide variant Pathogenic rs121917789 GRCh38 Chromosome 12, 109595044: 109595044
3 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh37 Chromosome 12, 110034320: 110034320
4 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh38 Chromosome 12, 109596515: 109596515
5 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh37 Chromosome 12, 110032947: 110032947
6 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh38 Chromosome 12, 109595142: 109595142
7 MVK NM_000431.3(MVK): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs104895295 GRCh37 Chromosome 12, 110012686: 110012686
8 MVK NM_000431.3(MVK): c.59A> C (p.His20Pro) single nucleotide variant Pathogenic rs104895295 GRCh38 Chromosome 12, 109574881: 109574881
9 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh37 Chromosome 12, 110029080: 110029080
10 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh38 Chromosome 12, 109591275: 109591275
11 MVK NM_000431.3(MVK): c.494C> T (p.Pro165Leu) single nucleotide variant Pathogenic rs121917790 GRCh37 Chromosome 12, 110019322: 110019322
12 MVK NM_000431.3(MVK): c.494C> T (p.Pro165Leu) single nucleotide variant Pathogenic rs121917790 GRCh38 Chromosome 12, 109581517: 109581517
13 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh37 Chromosome 12, 110032875: 110032875
14 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh38 Chromosome 12, 109595070: 109595070
15 MVK NM_000431.3(MVK): c.16_34del19 (p.Leu6Glyfs) deletion Pathogenic rs104895334 GRCh38 Chromosome 12, 109574838: 109574856
16 MVK NM_000431.3(MVK): c.16_34del19 (p.Leu6Glyfs) deletion Pathogenic rs104895334 GRCh37 Chromosome 12, 110012643: 110012661
17 MVK NM_000431.3(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Likely pathogenic rs104895300 GRCh37 Chromosome 12, 110019328: 110019328
18 MVK NM_000431.3(MVK): c.500C> T (p.Pro167Leu) single nucleotide variant Likely pathogenic rs104895300 GRCh38 Chromosome 12, 109581523: 109581523
19 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh37 Chromosome 12, 110023903: 110023903
20 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh38 Chromosome 12, 109586098: 109586098
21 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh37 Chromosome 12, 110019245: 110019245
22 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh38 Chromosome 12, 109581440: 109581440
23 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 GRCh37 Chromosome 12, 110012699: 110012699
24 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 GRCh38 Chromosome 12, 109574894: 109574894
25 MVK NM_000431.3(MVK): c.421dupG (p.Ala141Glyfs) duplication Pathogenic rs104895323 GRCh37 Chromosome 12, 110019249: 110019249
26 MVK NM_000431.3(MVK): c.421dupG (p.Ala141Glyfs) duplication Pathogenic rs104895323 GRCh38 Chromosome 12, 109581444: 109581444
27 MVK NM_000431.3(MVK): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs104895360 GRCh37 Chromosome 12, 110034353: 110034353
28 MVK NM_000431.3(MVK): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs104895360 GRCh38 Chromosome 12, 109596548: 109596548
29 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh37 Chromosome 12, 110017726: 110017726
30 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh38 Chromosome 12, 109579921: 109579921
31 MVK NM_000431.3(MVK): c.442G> A (p.Ala148Thr) single nucleotide variant Pathogenic rs104895298 GRCh37 Chromosome 12, 110019270: 110019270
32 MVK NM_000431.3(MVK): c.442G> A (p.Ala148Thr) single nucleotide variant Pathogenic rs104895298 GRCh38 Chromosome 12, 109581465: 109581465
33 MVK NM_000431.3(MVK): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs104895311 GRCh37 Chromosome 12, 110023863: 110023863
34 MVK NM_000431.3(MVK): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs104895311 GRCh38 Chromosome 12, 109586058: 109586058
35 MVK NM_000431.3(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic rs104895332 GRCh37 Chromosome 12, 110023907: 110023907
36 MVK NM_000431.3(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic rs104895332 GRCh38 Chromosome 12, 109586102: 109586102
37 MVK NM_000431.3(MVK): c.709A> T (p.Thr237Ser) single nucleotide variant Pathogenic rs104895366 GRCh37 Chromosome 12, 110028607: 110028607
38 MVK NM_000431.3(MVK): c.709A> T (p.Thr237Ser) single nucleotide variant Pathogenic rs104895366 GRCh38 Chromosome 12, 109590802: 109590802
39 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh37 Chromosome 12, 110032871: 110032871
40 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh38 Chromosome 12, 109595066: 109595066
41 MVK NM_000431.3(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 GRCh37 Chromosome 12, 110013954: 110013954
42 MVK NM_000431.3(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 GRCh38 Chromosome 12, 109576149: 109576149
43 MMAB; MVK NM_052845.3(MMAB): c.57C> A (p.Arg19=) single nucleotide variant Benign rs10774774 GRCh37 Chromosome 12, 110011229: 110011229
44 MMAB; MVK NM_052845.3(MMAB): c.57C> A (p.Arg19=) single nucleotide variant Benign rs10774774 GRCh38 Chromosome 12, 109573424: 109573424
45 MMAB; MVK NM_052845.3(MMAB): c.56G> A (p.Arg19His) single nucleotide variant Benign rs10774775 GRCh37 Chromosome 12, 110011230: 110011230
46 MMAB; MVK NM_052845.3(MMAB): c.56G> A (p.Arg19His) single nucleotide variant Benign rs10774775 GRCh38 Chromosome 12, 109573425: 109573425
47 MVK NM_000431.3(MVK): c.371+8C> T single nucleotide variant Benign/Likely benign rs67886029 GRCh38 Chromosome 12, 109579954: 109579954
48 MVK NM_000431.3(MVK): c.371+8C> T single nucleotide variant Benign/Likely benign rs67886029 GRCh37 Chromosome 12, 110017759: 110017759
49 MVK NM_000431.3(MVK): c.78+8G> A single nucleotide variant Uncertain significance rs766391278 GRCh38 Chromosome 12, 109574908: 109574908
50 MVK NM_000431.3(MVK): c.78+8G> A single nucleotide variant Uncertain significance rs766391278 GRCh37 Chromosome 12, 110012713: 110012713

Expression for Mevalonic Aciduria

Search GEO for disease gene expression data for Mevalonic Aciduria.

Pathways for Mevalonic Aciduria

Pathways related to Mevalonic Aciduria according to KEGG:

37
# Name Kegg Source Accession
1 Terpenoid backbone biosynthesis hsa00900

GO Terms for Mevalonic Aciduria

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.72 DHCR24 HMGCR IL1RN MVK SC5D
2 cholesterol metabolic process GO:0008203 9.63 DHCR24 HMGCR MVK
3 cholesterol biosynthetic process GO:0006695 9.54 DHCR24 HMGCR MVK
4 negative regulation of inflammatory response GO:0050728 9.51 MVK NLRP3
5 sterol metabolic process GO:0016125 9.49 DHCR24 MVK
6 isoprenoid biosynthetic process GO:0008299 9.48 HMGCR MVK
7 steroid metabolic process GO:0008202 9.46 DHCR24 HMGCR MVK SC5D
8 cholesterol biosynthetic process via lathosterol GO:0033490 9.43 DHCR24 SC5D
9 regulation of cholesterol biosynthetic process GO:0045540 9.43 HMGCR MVK SC5D
10 cholesterol biosynthetic process via desmosterol GO:0033489 9.4 DHCR24 SC5D
11 steroid biosynthetic process GO:0006694 9.26 DHCR24 HMGCR MVK SC5D
12 sterol biosynthetic process GO:0016126 8.92 DHCR24 HMGCR MVK SC5D

Sources for Mevalonic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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