MCID: MVL001
MIFTS: 57

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 53 12 49 24 55 71 28 13 14 69
Mevalonate Kinase Deficiency 12 72 24 36 41
Mevalonicaciduria 72 49 24
Hyperimmunoglobulin D with Periodic Fever 24 28
Complete Mevalonate Kinase Deficiency 49 55
Hyperimmunoglobulinemia D 24 69
Meva 53 71
Mva 49 55
Deficiency of Mevalonate Kinase 69
Periodic Fever, Dutch Type 24
Hyper Igd Syndrome 24
Mevalonate Kinase 13

Characteristics:

Orphanet epidemiological data:

55
mevalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

53
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:

31
mevalonic aciduria:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mevalonic Aciduria

NIH Rare Diseases : 49 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 ataxia, seizures and intellectual disability. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis 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

OMIM : 53 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 : 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 : 24 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.

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 94)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 32.6 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 10.5
7 periodic fever, familial, autosomal dominant 10.3 MVK NLRP3
8 pyoderma gangrenosum 10.3 MVK NLRP3
9 spondylosis 10.2 HMGCR IL1B
10 cryopyrin-associated periodic syndrome 10.2 IL1RN NLRP3
11 tinea favosa 10.2 IL1B NLRP3
12 smallpox 10.2
13 familial cold autoinflammatory syndrome 1 10.2 IL1B NLRP3
14 chronic recurrent multifocal osteomyelitis 10.2 IL1B NLRP3
15 vulvovaginal candidiasis 10.1 IL1RN NLRP3
16 muckle-wells syndrome 10.1 IL1B NLRP3
17 wells syndrome 10.1 IL1B NLRP3
18 familial cold autoinflammatory syndrome 10.1 IL1B NLRP3
19 gastric cancer, hereditary diffuse 10.1 IL1B IL1RN
20 cerebral artery occlusion 10.1 IL1B IL1RN
21 osteosclerotic myeloma 10.1 IL1B IL1RN
22 meningococcemia 10.1 IL1B IL1RN
23 exanthem 10.1 IL1RN NLRP3
24 hydrarthrosis 10.1 IL1B IL1RN
25 galactosemia 10.1 GALK1 IL1B
26 joint disorders 10.1 IL1B IL1RN
27 adult-onset still's disease 10.1 IL1B IL1RN
28 root resorption 10.1 IL1B IL1RN
29 dengue shock syndrome 10.1 IL1B IL1RN
30 idiopathic neutropenia 10.0 IL1B IL1RN
31 somatoform disorder 10.0 IL1B IL1RN
32 pneumoconiosis 10.0 IL1B NLRP3
33 gastric ulcer 10.0 IL1B IL1RN
34 peptic ulcer disease 10.0 IL1B IL1RN
35 aggressive periodontitis 10.0 IL1B IL1RN
36 atrophic gastritis 10.0 IL1B IL1RN
37 duodenal ulcer 10.0 IL1B IL1RN
38 autoinflammation, lipodystrophy, and dermatosis syndrome 10.0 IL1B IL1RN
39 blood group, i system 10.0
40 malaria 10.0
41 osteomyelitis 9.9 IL1B IL1RN
42 cervical adenitis 9.9 IL1B MVK NLRP3
43 blau syndrome 9.9 IL1B MVK NLRP3
44 helicobacter pylori infection 9.9 IL1B IL1RN
45 neutrophilia, hereditary 9.9
46 phenylketonuria 9.9
47 retinitis pigmentosa 9.9
48 ataxia and polyneuropathy, adult-onset 9.9
49 aceruloplasminemia 9.9
50 leber congenital amaurosis 4 9.9

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:

53
Skin Nails Hair Skin:
edema
morbilliform rash

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

Growth Other:
failure to thrive

Growth Height:
short stature

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)

Abdomen Spleen:
fluctuating splenomegaly

Abdomen Gastroin testinal:
vomiting
diarrhea

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

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:

55 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
6 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
8 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
9 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
12 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120
13 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
14 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
15 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
16 triangular face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000325
17 blue sclerae 55 31 frequent (33%) Frequent (79-30%) HP:0000592
18 arthralgia 31 HP:0002829
19 edema 31 HP:0000969
20 vomiting 31 HP:0002013
21 diarrhea 31 HP:0002014
22 low-set ears 31 HP:0000369
23 nystagmus 31 HP:0000639
24 failure to thrive 31 HP:0001508
25 elevated serum creatine phosphokinase 31 HP:0003236
26 elevated hepatic transaminases 31 HP:0002910
27 thrombocytopenia 31 HP:0001873
28 leukocytosis 31 HP:0001974
29 skin rash 31 HP:0000988
30 cerebellar atrophy 31 HP:0001272
31 lymphadenopathy 31 HP:0002716
32 kyphoscoliosis 31 occasional (7.5%) HP:0002751
33 cerebral atrophy 31 HP:0002059
34 generalized hypotonia 31 HP:0001290
35 posteriorly rotated ears 31 HP:0000358
36 progressive cerebellar ataxia 31 HP:0002073
37 agenesis of cerebellar vermis 31 HP:0002335
38 fluctuating hepatomegaly 31 HP:0006564
39 fluctuating splenomegaly 31 HP:0006268
40 morbilliform rash 31 HP:0012282
41 normocytic hypoplastic anemia 31 HP:0004819
42 aciduria 31 HP:0012072

UMLS symptoms related to Mevalonic Aciduria:


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

MGI Mouse Phenotypes related to Mevalonic Aciduria:

43
# 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):


# 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 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:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin D with Periodic Fever 28 MVK
2 Mevalonic Aciduria 28 MVK

Anatomical Context for Mevalonic Aciduria

MalaCards organs/tissues related to Mevalonic Aciduria:

38
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
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 cured by bone marrow transplantation. ( 17898110 )
2007
11
Coenzyme Q10 in phenylketonuria and mevalonic aciduria. ( 17442628 )
2007
12
Mevalonic aciduria: report of two cases. ( 17578678 )
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
Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? ( 11486910 )
2001
18
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. ( 11313768 )
2001
19
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. ( 10896295 )
2000
20
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
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
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. ( 8352861 )
1993
26
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. ( 8386351 )
1993
27
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. ( 8261631 )
1993
28
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. ( 1331607 )
1992
29
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. ( 1377680 )
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
Mevalonic aciduria. ( 3338715 )
1988
35
Near normal levels of isoprenoid lipids in severe mevalonic aciduria. ( 3365255 )
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:

71
# 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 all 19)
# 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

Pathways related to Mevalonic Aciduria according to KEGG:

36
# 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 14)
# 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 9.71 IL1B IL1RN NLRP3
3 cholesterol metabolic process GO:0008203 9.67 DHCR24 HMGCR MVK
4 negative regulation of MAP kinase activity GO:0043407 9.52 HMGCR IL1B
5 isoprenoid biosynthetic process GO:0008299 9.51 HMGCR MVK
6 cholesterol biosynthetic process GO:0006695 9.5 DHCR24 HMGCR MVK
7 interleukin-1 beta production GO:0032611 9.48 IL1B NLRP3
8 fever generation GO:0001660 9.46 IL1B IL1RN
9 steroid metabolic process GO:0008202 9.46 DHCR24 HMGCR MVK SC5D
10 cholesterol biosynthetic process via desmosterol GO:0033489 9.43 DHCR24 SC5D
11 regulation of cholesterol biosynthetic process GO:0045540 9.43 HMGCR MVK SC5D
12 cholesterol biosynthetic process via lathosterol GO:0033490 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

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

# Name GO ID Score Top Affiliating Genes
1 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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