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MEVA
MCID: MVL001
MIFTS: 57

Mevalonic Aciduria (MEVA)

Categories: Bone diseases, Eye diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mevalonic Aciduria

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Eye diseases Bone diseases Skin diseases Immune diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Mevalonic Aciduria

About this section
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 familial mediterranean fever, and has symptoms including vomiting, arthralgia and abdominal pain. 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 Colchicine and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has material basis in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.

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 (MKD), also called mevalonic aciduria and hyper immunoglobin D syndrome... more...

Sources

Related Diseases for Mevalonic Aciduria

About this section

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 32.5 IL1RN MVK
2 familial mediterranean fever 30.1 IL1RN MVK NLRP3
3 periodic fever, familial, autosomal dominant 30.0 MVK NLRP3
4 cryopyrin-associated periodic syndrome 29.9 IL1RN NLRP3
5 mosaic variegated aneuploidy syndrome 11.9
6 mosaic variegated aneuploidy syndrome 1 11.6
7 peho syndrome 11.3
8 mosaic variegated aneuploidy syndrome 3 11.1
9 vaccinia 10.7
10 smallpox 10.3
11 amyloidosis 10.3
12 malaria 10.2
13 zellweger syndrome 10.1
14 dermatitis 10.1
15 influenza 10.1
16 macrophage activation syndrome 10.1
17 methylmalonic aciduria, cblb type 10.1 MMAB MVK
18 cervical adenitis 10.1 MVK NLRP3
19 amyloidosis aa 10.0
20 phenylketonuria 10.0
21 retinitis pigmentosa 10.0
22 aceruloplasminemia 10.0
23 leber congenital amaurosis 4 10.0
24 hematopoietic stem cell transplantation 10.0
25 thrombocytopenia 10.0
26 retinitis 10.0
27 intestinal obstruction 10.0
28 hypotonia 10.0
29 encephalopathy 10.0
30 blau syndrome 10.0 MVK NLRP3
31 pyoderma gangrenosum 10.0 MVK NLRP3
32 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
33 glomerulonephritis 10.0
34 keratopathy 10.0
35 crescentic glomerulonephritis 10.0
36 pericarditis 10.0
37 vulvar vestibulitis syndrome 10.0 IL1RN NLRP3
38 triiodothyronine receptor auxiliary protein 10.0
39 alzheimer disease 5 10.0
40 dermatitis, atopic 10.0
41 variola major 10.0
42 rift valley fever 10.0
43 coccidioidomycosis 10.0
44 hepatitis c 10.0
45 papilloma 10.0
46 monkeypox 10.0
47 cervical intraepithelial neoplasia 10.0
48 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
49 hepatitis 10.0
50 liver disease 10.0

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



Diseases related to Mevalonic Aciduria
Sources

Symptoms & Phenotypes for Mevalonic Aciduria

About this section

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)

Abdomen Spleen:
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 thrombocytopenia 32 HP:0001873
26 leukocytosis 32 HP:0001974
27 diarrhea 32 HP:0002014
28 progressive cerebellar ataxia 32 HP:0002073
29 cerebellar atrophy 32 HP:0001272
30 lymphadenopathy 32 HP:0002716
31 generalized hypotonia 32 HP:0001290
32 kyphoscoliosis 32 occasional (7.5%) HP:0002751
33 cerebral atrophy 32 HP:0002059
34 posteriorly rotated ears 32 HP:0000358
35 agenesis of cerebellar vermis 32 HP:0002335
36 fluctuating hepatomegaly 32 HP:0006564
37 fluctuating splenomegaly 32 HP:0006268
38 morbilliform rash 32 HP:0012282
39 normocytic hypoplastic anemia 32 HP:0004819
40 elevated hepatic transaminase 32 HP:0002910
41 aciduria 32 HP:0012072

UMLS symptoms related to Mevalonic Aciduria:


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

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
Sources

Drugs & Therapeutics for Mevalonic Aciduria

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 6167 2833
2 Immunoglobulins Phase 3,Phase 2
3 Pharmaceutical Solutions Phase 3
4 Antibodies, Monoclonal Phase 3,Phase 2
5 Antibodies Phase 3,Phase 2
6 Immunologic Factors Phase 3,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
2 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
3 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Unknown status NCT00260299
4 B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency Withdrawn NCT01568736
5 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

Sources

Genetic Tests for Mevalonic Aciduria

About this section

Genetic tests related to Mevalonic Aciduria:

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

Anatomical Context for Mevalonic Aciduria

About this section

MalaCards organs/tissues related to Mevalonic Aciduria:

41
Skin, Liver, Spleen, Bone, Eye, Prostate, B Cells
Sources

Publications for Mevalonic Aciduria

About this section

Articles related to Mevalonic Aciduria:

(show top 50) (show all 80)
# Title Authors Year
1
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome. ( 30385706 )
2018
2
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency. ( 29234874 )
2018
3
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. ( 29290516 )
2018
4
Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review. ( 29335349 )
2018
5
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. ( 29451047 )
2018
6
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency. ( 30030262 )
2018
7
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency. ( 30225156 )
2018
8
Mevalonolactone disrupts mitochondrial functions and induces permeability transition pore opening in rat brain mitochondria: Implications for the pathogenesis of mevalonic aciduria. ( 28284974 )
2017
9
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome. ( 27723279 )
2017
10
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever. ( 27079959 )
2017
11
Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency. ( 28501347 )
2017
12
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD). ( 26409462 )
2016
13
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency. ( 26986117 )
2016
14
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. ( 27012807 )
2016
15
Natural history of mevalonate kinase deficiency: a literature review. ( 27142780 )
2016
16
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases. ( 27377765 )
2016
17
Mevalonate kinase deficiency: current perspectives. ( 27499643 )
2016
18
Anti-inflammatory and cytoprotective effects of a squalene synthase inhibitor, TAK-475 active metabolite-I, in immune cells simulating mevalonate kinase deficiency (MKD)-like condition. ( 27652005 )
2016
19
A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency. ( 25677409 )
2015
20
Different presentations of mevalonate kinase deficiency: a case series. ( 25897835 )
2015
21
Microglia activation and interaction with neuronal cells in a biochemical model of mevalonate kinase deficiency. ( 26003816 )
2015
22
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency. ( 26937395 )
2015
23
Mevalonate kinase deficiency nomenclature. ( 23921621 )
2014
24
Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature. ( 24531849 )
2014
25
Mevalonate kinase deficiency and IBD: shared genetic background. ( 24531851 )
2014
26
Current advances in the understanding and treatment of mevalonate kinase deficiency. ( 25572728 )
2014
27
Mevalonate kinase deficiency, a metabolic autoinflammatory disease. ( 23110805 )
2013
28
Evolutionary hypothesis of the Mevalonate Kinase Deficiency. ( 23168296 )
2013
29
Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients. ( 23760140 )
2013
30
Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis. ( 24287904 )
2013
31
Systemic and neuronal inflammatory markers in a mouse model of mevalonate kinase deficiency: a strain-comparative study. ( 24292573 )
2013
32
Weekly oral alendronate in mevalonate kinase deficiency. ( 24360083 )
2013
33
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. ( 23146290 )
2012
34
Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria. ( 22405037 )
2012
35
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation. ( 22726114 )
2012
36
Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. ( 22740624 )
2012
37
The effect of clodronate on a mevalonate kinase deficiency cellular model. ( 22851203 )
2012
38
Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency. ( 21282739 )
2011
39
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation. ( 21399979 )
2011
40
Perinatal onset mevalonate kinase deficiency. ( 21425920 )
2011
41
Mevalonate kinase deficiency: a survey of 50 patients. ( 21708801 )
2011
42
On-demand anakinra treatment is effective in mevalonate kinase deficiency. ( 21859689 )
2011
43
Retinitis pigmentosa and punctate cataracts in mevalonic aciduria. ( 25390116 )
2010
44
Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency. ( 20174853 )
2010
45
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn. ( 20027140 )
2009
46
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. ( 19504350 )
2009
47
Abnormal prenatal ultrasound findings in mevalonic aciduria. ( 18264963 )
2008
48
The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria. ( 18037572 )
2008
49
Mevalonic aciduria cured by bone marrow transplantation. ( 17898110 )
2007
50
Allogeneic bone marrow transplantation in mevalonic aciduria. ( 17596604 )
2007
Sources

Variations for Mevalonic Aciduria

About this section

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 280)
# 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 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh37 Chromosome 12, 110006577: 110006577
28 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh38 Chromosome 12, 109568772: 109568772
29 MVK NM_000431.3(MVK): c.*11C> T single nucleotide variant not provided rs104895345 GRCh37 Chromosome 12, 110034393: 110034393
30 MVK NM_000431.3(MVK): c.*11C> T single nucleotide variant not provided rs104895345 GRCh38 Chromosome 12, 109596588: 109596588
31 MVK NM_000431.3(MVK): c.-14_78del92 deletion not provided rs104895309 GRCh37 Chromosome 12, 110012614: 110012705
32 MVK NM_000431.3(MVK): c.-14_78del92 deletion not provided rs104895309 GRCh38 Chromosome 12, 109574809: 109574900
33 MVK NM_000431.3(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 GRCh37 Chromosome 12, 110032952: 110032952
34 MVK NM_000431.3(MVK): c.769-7dup duplication not provided rs104895348 GRCh38 Chromosome 12, 109591234: 109591234
35 MVK NM_000431.3(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 GRCh38 Chromosome 12, 109595147: 109595147
36 MVK NM_000431.3(MVK): c.1006G> A (p.Gly336Ser) single nucleotide variant not provided rs104895358 GRCh37 Chromosome 12, 110032953: 110032953
37 MVK NM_000431.3(MVK): c.1006G> A (p.Gly336Ser) single nucleotide variant not provided rs104895358 GRCh38 Chromosome 12, 109595148: 109595148
38 MVK NM_000431.3(MVK): c.1039+1G> T single nucleotide variant not provided rs104895362 GRCh37 Chromosome 12, 110032987: 110032987
39 MVK NM_000431.3(MVK): c.1039+1G> T single nucleotide variant not provided rs104895362 GRCh38 Chromosome 12, 109595182: 109595182
40 MVK NM_000431.3(MVK): c.104T> C (p.Leu35Ser) single nucleotide variant not provided rs104895313 GRCh37 Chromosome 12, 110013828: 110013828
41 MVK NM_000431.3(MVK): c.104T> C (p.Leu35Ser) single nucleotide variant not provided rs104895313 GRCh38 Chromosome 12, 109576023: 109576023
42 MVK NM_000431.3(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 GRCh37 Chromosome 12, 110034258: 110034258
43 MVK NM_000431.3(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 GRCh38 Chromosome 12, 109596453: 109596453
44 MVK NM_000431.3(MVK): c.1095_1098delTGAC (p.Asp366Alafs) deletion not provided rs104895372 GRCh37 Chromosome 12, 110034286: 110034289
45 MVK NM_000431.3(MVK): c.1095_1098delTGAC (p.Asp366Alafs) deletion not provided rs104895372 GRCh38 Chromosome 12, 109596481: 109596484
46 MVK NM_000431.3(MVK): c.1100G> C (p.Cys367Ser) single nucleotide variant not provided rs104895359 GRCh37 Chromosome 12, 110034291: 110034291
47 MVK NM_000431.3(MVK): c.1100G> C (p.Cys367Ser) single nucleotide variant not provided rs104895359 GRCh38 Chromosome 12, 109596486: 109596486
48 MVK NM_000431.3(MVK): c.1127G> T (p.Gly376Val) single nucleotide variant not provided rs104895340 GRCh37 Chromosome 12, 110034318: 110034318
49 MVK NM_000431.3(MVK): c.1127G> T (p.Gly376Val) single nucleotide variant not provided rs104895340 GRCh38 Chromosome 12, 109596513: 109596513
50 MVK NM_000431.3(MVK): c.1132T> C (p.Ser378Pro) single nucleotide variant not provided rs104895349 GRCh37 Chromosome 12, 110034323: 110034323
Sources

Expression for Mevalonic Aciduria

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Search GEO for disease gene expression data for Mevalonic Aciduria.
Sources

Pathways for Mevalonic Aciduria

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Pathways related to Mevalonic Aciduria according to KEGG:

37
# Name Kegg Source Accession
1 Terpenoid backbone biosynthesis hsa00900

Pathways related to Mevalonic Aciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.37 DHCR24 GALK1 HMGCR MMAB MVK SC5D
2
Regulation of cholesterol biosynthesis by SREBP (SREBF) 66
Show member pathways
 11.12 HMGCR MVK SC5D
3
cholesterol biosynthesis I 1
Show member pathways
 11.03 DHCR24 SC5D
4
Terpenoid backbone biosynthesis 37
Show member pathways
 10.98 DHCR24 HMGCR MVK SC5D
Sources

GO Terms for Mevalonic Aciduria

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Cellular components related to Mevalonic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.92 DHCR24 HMGCR NLRP3 SC5D

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

(show all 11)
# 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 9.49 MVK NLRP3
5 isoprenoid biosynthetic process GO:0008299 9.48 HMGCR MVK
6 steroid metabolic process GO:0008202 9.46 DHCR24 HMGCR MVK SC5D
7 cholesterol biosynthetic process via desmosterol GO:0033489 9.43 DHCR24 SC5D
8 regulation of cholesterol biosynthetic process GO:0045540 9.43 HMGCR MVK SC5D
9 cholesterol biosynthetic process via lathosterol GO:0033490 9.4 DHCR24 SC5D
10 steroid biosynthetic process GO:0006694 9.26 DHCR24 HMGCR MVK SC5D
11 sterol biosynthetic process GO:0016126 8.92 DHCR24 HMGCR MVK SC5D
Sources

Sources for Mevalonic Aciduria

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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