MCID: MVL001
MIFTS: 56

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 54 12 50 25 56 71 29 13 14 69
Mevalonate Kinase Deficiency 12 24 25 42
Mevalonicaciduria 50 24 25
Hyperimmunoglobulin D with Periodic Fever 25 29
Complete Mevalonate Kinase Deficiency 50 56
Hyperimmunoglobulinemia D 25 69
Mva 50 56
Deficiency of Mevalonate Kinase 69
Periodic Fever, Dutch Type 25
Hyper Igd Syndrome 25
Mevalonate Kinase 13
Meva 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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 : 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 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).  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, and has symptoms including short stature, ataxia and splenomegaly. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related phenotypes are Decreased free cholesterol and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

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 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)

Wikipedia : 72 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 56)
id Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 27.6 DHCR24 GALK1 HMGCR IL1RN MVK NLRP12
2 mosaic variegated aneuploidy syndrome 11.7
3 peho syndrome 11.0
4 mosaic variegated aneuploidy syndrome 1 11.0
5 mosaic variegated aneuploidy syndrome 3 10.8
6 vaccinia 10.4
7 axillary adenitis 10.3 MVK NLRP3
8 multiple sclerosis 5 10.3 MVK NLRP3
9 porokeratosis 3, multiple types 10.2 IL1RN MVK
10 yao syndrome 10.2 MVK NLRP3
11 lip cancer 10.2 MVK NLRP3
12 crystal arthropathies 10.2 IL1RN NLRP3
13 familial mediterranean fever, ad 10.2 MVK NLRP3
14 walker dyson syndrome 10.2 IL1RN NLRP3
15 milk allergy 10.1 IL1RN NLRP3
16 senile reticular retinal degeneration 10.1 IL1RN NLRP3
17 hiv-1 10.1
18 smallpox 10.1
19 giant axonal neuropathy 2 9.9 NLRP12 NLRP3
20 noma 9.9 IL1RN NLRP3
21 kaposi sarcoma 9.9 IL1RN NLRP3
22 malaria 9.9
23 cinca syndrome 9.8 IL1RN MVK NLRP3
24 cataract 9.8
25 hematopoietic stem cell transplantation 9.8
26 retinitis 9.8
27 retinitis pigmentosa 9.8
28 intestinal obstruction 9.8
29 thrombocytopenia 9.8
30 cerebellar ataxia 9.8
31 ataxia 9.8
32 encephalopathy 9.8
33 hypotonia 9.8
34 phenylketonuria 9.8
35 early congenital syphilis 9.8 IL1RN NLRP3
36 atopic dermatitis 9.8
37 influenza 9.8
38 dermatitis 9.8
39 monkeypox 9.8
40 plague 9.6
41 hepatitis 9.6
42 rhinitis 9.6
43 colorectal cancer 9.6
44 hepatitis c virus 9.6
45 chikungunya 9.6
46 prostate cancer 9.6
47 ciliopathy 9.6
48 stomatitis 9.6
49 renal cell carcinoma 9.6
50 plasmodium vivax malaria 9.6

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:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
hypotonia
developmental delay
cerebral atrophy
psychomotor retardation
cerebellar atrophy
more
Abdomen- Gastroin testinal:
diarrhea
vomiting

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

Laboratory- Abnormalities:
elevated transaminases
elevated serum creatine kinase
serum cholesterol low or normal
elevated leukotriene e(4)
decreased ubiquinone-10
more
Skin Nails & Hair- Skin:
edema
morbilliform rash

Skeletal- Limbs:
arthralgias

Abdomen- Spleen:
fluctuating splenomegaly

Growth- Other:
failure to thrive

Head And Neck- Eyes:
nystagmus
downslanting palpebral fissures
attenuation of retinal vessels
blue sclerae
central cataracts
more
Head And Neck- Head:
microcephaly
dolichocephaly
wide, irregular fontanels

Hematology:
thrombocytopenia
leukocytosis
normocytic hypoplastic anemia

Head And Neck- Face:
triangular face

Skeletal- Spine:
kyphoscoliosis (in some patients)

Abdomen- Liver:
fluctuating hepatomegaly

Immunology:
elevated igd


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 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
3 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
10 cerebral cortical atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002120
11 triangular face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000325
12 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
13 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
14 dolichocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000268
15 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
16 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
17 blue sclerae 56 32 frequent (33%) Frequent (79-30%) HP:0000592
18 failure to thrive 32 HP:0001508
19 nystagmus 32 HP:0000639
20 diarrhea 32 HP:0002014
21 cerebral atrophy 32 HP:0002059
22 low-set ears 32 HP:0000369
23 thrombocytopenia 32 HP:0001873
24 kyphoscoliosis 32 occasional (7.5%) HP:0002751
25 posteriorly rotated ears 32 HP:0000358
26 vomiting 32 HP:0002013
27 cerebellar atrophy 32 HP:0001272
28 lymphadenopathy 32 HP:0002716
29 edema 32 HP:0000969
30 agenesis of cerebellar vermis 32 HP:0002335
31 skin rash 32 HP:0000988
32 progressive cerebellar ataxia 32 HP:0002073
33 arthralgia 32 HP:0002829
34 leukocytosis 32 HP:0001974
35 fluctuating hepatomegaly 32 HP:0006564
36 fluctuating splenomegaly 32 HP:0006268
37 morbilliform rash 32 HP:0012282
38 normocytic hypoplastic anemia 32 HP:0004819
39 elevated hepatic transaminases 32 HP:0002910
40 elevated serum creatine phosphokinase 32 HP:0003236
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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 HMGCR MVK

MGI Mouse Phenotypes related to Mevalonic Aciduria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 DHCR24 GALK1 HMGCR IL1RN NLRP12 NLRP3

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 Immunoglobulins Phase 2
2 Antibodies, Monoclonal Phase 2
3 Antibodies Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
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
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
Allogeneic bone marrow transplantation in mevalonic aciduria. ( 17596604 )
2007
10
Mevalonic aciduria: report of two cases. ( 17578678 )
2007
11
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. ( 17442628 )
2007
12
Mevalonic aciduria cured by bone marrow transplantation. ( 17898110 )
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
Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. ( 9323576 )
1997
24
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. ( 9266363 )
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
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
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. ( 2850914 )
1988
34
Mevalonic aciduria. ( 3338715 )
1988
35
A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. ( 3141709 )
1988
36
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. ( 2846965 )
1988
37
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. ( 3365255 )
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:

71
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 GRCh38 Chromosome 12, 109574838: 109574856
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.

Pathways for Mevalonic Aciduria

GO Terms for Mevalonic Aciduria

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 DHCR24 HMGCR IL1RN MVK SC5D
2 negative regulation of inflammatory response GO:0050728 9.65 MVK NLRP12 NLRP3
3 cholesterol metabolic process GO:0008203 9.63 DHCR24 HMGCR MVK
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.54 NLRP12 NLRP3
5 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.52 NLRP12 NLRP3
6 positive regulation of interleukin-1 beta secretion GO:0050718 9.51 NLRP12 NLRP3
7 cholesterol biosynthetic process GO:0006695 9.5 DHCR24 HMGCR MVK
8 isoprenoid biosynthetic process GO:0008299 9.49 HMGCR MVK
9 steroid metabolic process GO:0008202 9.46 DHCR24 HMGCR MVK SC5D
10 cholesterol biosynthetic process via lathosterol GO:0033490 9.43 DHCR24 SC5D
11 regulation of cholesterol biosynthetic process GO:0045540 9.43 HMGCR MVK SC5D
12 cholesterol biosynthetic process via desmosterol GO:0033489 9.4 DHCR24 SC5D
13 steroid biosynthetic process GO:0006694 9.26 DHCR24 HMGCR MVK SC5D
14 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
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65 SNOMED-CT via HPO
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