MCID: MVL001
MIFTS: 51

Mevalonic Aciduria malady

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

Aliases & Classifications for Mevalonic Aciduria

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 22GeneTests, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mevalonic Aciduria:

Name: Mevalonic Aciduria 49 10 11 45 23 12 51 67 24 65
Mevalonate Kinase Deficiency 10 45 22 23 36
Mevalonicaciduria 45 22 23
Hyperimmunoglobulin D with Periodic Fever 23 24
Hyperimmunoglobulinemia D 23 65
Complete Mevalonate Kinase Deficiency 51
 
Deficiency of Mevalonate Kinase 65
Periodic Fever, Dutch Type 23
Hyper Igd Syndrome 23
Mevalonate Kinase 11
Meva 67
Mva 51

Characteristics:

Orphanet epidemiological data:

51
mevalonic aciduria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal

HPO:

61
mevalonic aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 610377
Disease Ontology10 DOID:0050452
MeSH36 D054078
NCIt42 C84890
Orphanet51 29
ICD10 via Orphanet28 E88.8
MESH via Orphanet37 D054078
UMLS via Orphanet66 C0342731, C1959626
MedGen34 C1959626
UMLS65 C0342731, C0398691, C1959626

Summaries for Mevalonic Aciduria

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NIH Rare Diseases:45 Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. during these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. this deficiency occurs as a result of inherited mutations in the mvk gene. this condition is inherited in an autosomal recessive pattern. treatment is challenging and remains mainly supportive.the less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia d syndrome (hids).  last updated: 2/6/2012

MalaCards based summary: Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and mosaic variegated aneuploidy syndrome, and has symptoms including microcephaly, dolichocephaly and triangular face. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways are cholesterol biosynthesis II (via 24,25-dihydrolanosterol) and Terpenoid backbone biosynthesis. Affiliated tissues include skin, spleen and liver, and related mouse phenotype integument.

UniProtKB/Swiss-Prot:67 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:23 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:49 Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of... (610377) more...

Wikipedia:68 Mevalonate kinase deficiency, also called mevalonic aciduria, is an autosomal recessive metabolic... more...

Related Diseases for Mevalonic Aciduria

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-igd syndrome29.7CASP1, DHCR24, GALK1, IL1RN, MVK, NLRP3
2mosaic variegated aneuploidy syndrome11.7
3mosaic variegated aneuploidy syndrome 111.5
4endotheliitis10.3
5hepatitis10.2
6porokeratosis 3, disseminated superficial actinic10.2IL1RN, MVK
7schizophrenia10.2
8systemic lupus erythematosus10.2
9lung cancer10.2
10breast cancer10.2
11coronary artery disease10.2
12obesity10.2
13prader-willi syndrome10.2
14tendinitis10.2
15gastric cancer10.2
16keloids10.2
17leukemia10.2
18neutropenia10.2
19ulcerative colitis10.2
20hyperphosphatemia10.2
21artery disease10.2
22colitis10.2
23atrial fibrillation10.2
24sensorineural hearing loss10.2
25cornelia de lange syndrome10.2
26hypercalcemia10.2
27calcific tendinitis10.2
28glossopharyngeal neuralgia10.2
29cerebritis10.2
30myopathy10.2
31aortitis10.2
32diverticulitis10.2
33herpes simplex10.2
34lupus erythematosus10.2
35encephalitis10.2
36muscular dystrophy10.2
37herpes simplex encephalitis10.2
38hyper ige syndrome10.2
39large granular lymphocyte leukemia10.2
40lymphangiomatosis10.2
41sudden sensorineural hearing loss10.2
42aneurysm10.2
43cerebral aneurysms10.2
44postauricular lymphadenitis10.1MVK, NLRP3
45vallecula cancer10.0MVK, NLRP3
46sarcoidosis, early-onset10.0MVK, NLRP3
47cryptomicrotia brachydactyly syndrome10.0IL1RN, NLRP3
48intracranial embolism10.0IL1RN, NLRP3
49waardenburg syndrome type 410.0IL1RN, NLRP3
50wells-jankovic syndrome10.0IL1RN, NLRP3

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



Diseases related to mevalonic aciduria

Symptoms for Mevalonic Aciduria

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Symptoms by clinical synopsis from OMIM:

610377

Clinical features from OMIM:

610377

Symptoms:

 51 (show all 17)
  • microcephaly
  • dolichocephaly/scaphocephaly
  • large fontanelle/delayed fontanelle closure
  • triangular face
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • splenomegaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • blue sclerae
  • cataract/lens opacification
  • low set ears/posteriorly rotated ears
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Mevalonic Aciduria:

(show all 49)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 dolichocephaly hallmark (90%) HP:0000268
3 triangular face hallmark (90%) HP:0000325
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 seizures hallmark (90%) HP:0001250
6 muscular hypotonia hallmark (90%) HP:0001252
7 splenomegaly hallmark (90%) HP:0001744
8 cerebral cortical atrophy hallmark (90%) HP:0002120
9 delayed skeletal maturation hallmark (90%) HP:0002750
10 short stature hallmark (90%) HP:0004322
11 cognitive impairment hallmark (90%) HP:0100543
12 low-set, posteriorly rotated ears typical (50%) HP:0000368
13 cataract typical (50%) HP:0000518
14 blue sclerae typical (50%) HP:0000592
15 incoordination typical (50%) HP:0002311
16 kyphoscoliosis rare (5%) HP:0002751
17 large fontanelles HP:0000239
18 microcephaly HP:0000252
19 dolichocephaly HP:0000268
20 triangular face HP:0000325
21 posteriorly rotated ears HP:0000358
22 low-set ears HP:0000369
23 downslanted palpebral fissures HP:0000494
24 cataract HP:0000518
25 blue sclerae HP:0000592
26 nystagmus HP:0000639
27 edema HP:0000969
28 skin rash HP:0000988
29 muscular hypotonia HP:0001252
30 global developmental delay HP:0001263
31 cerebellar atrophy HP:0001272
32 failure to thrive HP:0001508
33 thrombocytopenia HP:0001873
34 leukocytosis HP:0001974
35 vomiting HP:0002013
36 diarrhea HP:0002014
37 cerebral atrophy HP:0002059
38 progressive cerebellar ataxia HP:0002073
39 agenesis of cerebellar vermis HP:0002335
40 lymphadenopathy HP:0002716
41 arthralgia HP:0002829
42 elevated hepatic transaminases HP:0002910
43 elevated serum creatine phosphokinase HP:0003236
44 short stature HP:0004322
45 normocytic hypoplastic anemia HP:0004819
46 fluctuating splenomegaly HP:0006268
47 fluctuating hepatomegaly HP:0006564
48 aciduria HP:0012072
49 morbilliform rash HP:0012282

Drugs & Therapeutics for Mevalonic Aciduria

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunologic FactorsPhase 218483
2ImmunoglobulinsPhase 24477
3Antibodies, MonoclonalPhase 22413
4AntibodiesPhase 24477

Interventional clinical trials:

idNameStatusNCT IDPhase
1Canakinumab in Patients With Active Hyper-IgD SyndromeCompletedNCT01303380Phase 2
2MEVALONATE KINASE GENE MUTATIONS AND THEIR CLINICAL CORRELATIONS IN BEHÇET'S DISEASECompletedNCT01780363
3Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase DeficiencyRecruitingNCT00260299
4B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase DeficiencyRecruitingNCT01568736

Search NIH Clinical Center for Mevalonic Aciduria


Cochrane evidence based reviews: mevalonate kinase deficiency

Genetic Tests for Mevalonic Aciduria

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Genetic tests related to Mevalonic Aciduria:

id Genetic test Affiliating Genes
1 Mevalonicaciduria22 MVK

Anatomical Context for Mevalonic Aciduria

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MalaCards organs/tissues related to Mevalonic Aciduria:

33
Skin, Spleen, Liver, Bone, Eye, T cells, Brain

Animal Models for Mevalonic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Mevalonic Aciduria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.6CASP1, DHCR24, IL1RN, NLRP3, SC5D

Publications for Mevalonic Aciduria

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Articles related to Mevalonic Aciduria:

(show all 38)
idTitleAuthorsYear
1
TRH-receptor mobility and function in intact and cholesterol-depleted plasma membrane of HEK293 cells stably expressing TRH-R-eGFP. (25485475)
2015
2
Familial Alzheimer's mutations within APPTM increase AI^42 production by enhancing accessibility of I/-cleavage site. (24390130)
2014
3
Muir-Torre syndrome. (25427047)
2014
4
Hepatic angiomyolipoma growing to cause epigastric discomfort: a case report. (26185889)
2014
5
Pathologically reduced subbasal nerve density in epithelial basement membrane dystrophy is unaltered by phototherapeutic keratectomy treatment. (24569577)
2014
6
Construction and identification of the recombinant lentiviral expression vector targeting human BAX inhibitor-1 gene. (24344041)
2013
7
Measles and secondary hemophagocytic lymphohistiocytosis. (22931858)
2012
8
LncRNAs expression signatures of renal clear cell carcinoma revealed by microarray. (22879955)
2012
9
Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. (22174313)
2011
10
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. (21325470)
2011
11
Malakoplakia of the spleen: a case report. (18508844)
2010
12
Aging-related loss of the chromatin protein HMGB2 in articular cartilage is linked to reduced cellularity and osteoarthritis. (19139395)
2009
13
Developmental and genetic regulation of human surfactant protein B in vivo. (18776725)
2009
14
Pathogenetic role of JAK2 gene mutation in chronic myeloproliferative disorders]. (18709972)
2008
15
Activation of nuclear factor-kappaB during retinal degeneration in rd mice. (18552981)
2008
16
Hypertensive encephalopathy presenting with isolated brain stem and cerebellar edema. (18321248)
2008
17
The road from obesity to type 2 diabetes. (18505743)
2008
18
Pulmonary aspergillosis and ischemic distal limb necrosis associated with enteric salmonellosis in a foal. (17317800)
2007
19
Diagnosis and treatment of pyoderma gangrenosum. (16858047)
2006
20
Massive and destructive T cell response to homeostatic cue in CD24-deficient lymphopenic hosts. (16769998)
2006
21
Relationship between of carotid ultrasonography in Japanese hypertensive subjects for intima-media thickness and plaque, and candidate gene polymorphism--possibility of early detection of arteriosclerotic disease]. (15915764)
2005
22
T-bet, a T cell-associated transcription factor, is expressed in Hodgkin's lymphoma. (15712176)
2005
23
Endometrial adenocarcinoma following ThermaChoice balloon endometrial ablation. (16368602)
2005
24
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. (12770961)
2003
25
Regulation of 25-hydroxyvitamin D3-1 alpha-hydroxylase and production of 1 alpha,25-dihydroxyvitamin D3 by human dendritic cells. (12855575)
2003
26
A furin-like convertase mediates propeptide cleavage of BACE, the Alzheimer's beta -secretase. (10956649)
2000
27
Guess what! Diagnosis and comments: Birt-Hogg-DubAc syndrome. (11023340)
2000
28
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. (10064660)
1999
29
Expression of human lecithin:cholesterol acyltransferase in transgenic mice: effects on cholesterol efflux, esterification, and transport. (9144096)
1997
30
Nevus spilus (speckled lentiginous nevus) associated with a nodular neurotized nevus. (9185922)
1997
31
Tyrosine-phosphorylated forms of Ig beta, CD22, TCR zeta and HOSS are major ligands for tandem SH2 domains of Syk. (8580068)
1995
32
Altered urinary excretion of lysosomal hydrolases in pregnancy. (8238009)
1993
33
In vitro susceptibility of Mycobacterium kansasii to clarithromycin. (1416897)
1992
34
Activation of smooth muscle myosin light chain kinase activity by a monoclonal antibody which recognizes the calmodulin-binding region. (1710106)
1991
35
Differential effects of IL-2 and IL-6 on the development of three distinct precursor T-cell populations in the thymus. (1983777)
1990
36
3M dwarfism: a study of two further sibs. (2810344)
1989
37
Gastro-duodenitis: bits and bugs. (3294167)
1988
38

Variations for Mevalonic Aciduria

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

67
id Symbol AA change Variation ID SNP ID
1MVKp.His20ProVAR_004022
2MVKp.Ile268ThrVAR_004024
3MVKp.Asn301ThrVAR_004025rs28934896
4MVKp.Ala334ThrVAR_004026
5MVKp.Val310MetVAR_009068
6MVKp.Thr243IleVAR_010964
7MVKp.Leu264PheVAR_010965
8MVKp.Leu265ProVAR_010966

Clinvar genetic disease variations for Mevalonic Aciduria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.902A> C (p.Asn301Thr)single nucleotide variantPathogenicrs121917789GRCh37Chr 12, 110032849: 110032849
2MVKNM_000431.3(MVK): c.1129G> A (p.Val377Ile)single nucleotide variantPathogenicrs28934897GRCh37Chr 12, 110034320: 110034320
3MVKNM_000431.3(MVK): c.1000G> A (p.Ala334Thr)single nucleotide variantPathogenicrs104895317GRCh37Chr 12, 110032947: 110032947
4MVKNM_000431.3(MVK): c.59A> C (p.His20Pro)single nucleotide variantPathogenicrs104895295GRCh37Chr 12, 110012686: 110012686
5MVKNM_000431.3(MVK): c.803T> C (p.Ile268Thr)single nucleotide variantPathogenicrs104895304GRCh37Chr 12, 110029080: 110029080
6MVKNM_000431.3(MVK): c.928G> A (p.Val310Met)single nucleotide variantPathogenicrs104895319GRCh37Chr 12, 110032875: 110032875
7MVKNM_000431.3(MVK): c.16_34del (p.Leu6Glyfs)deletionPathogenicrs104895334GRCh38Chr 12, 109574838: 109574856
8MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
9MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245
10MVKNM_000431.3(MVK): c.72dupT (p.Gly25Trpfs)duplicationPathogenicrs104895322GRCh37Chr 12, 110012699: 110012699

Expression for genes affiliated with Mevalonic Aciduria

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Search GEO for disease gene expression data for Mevalonic Aciduria.

Pathways for genes affiliated with Mevalonic Aciduria

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GO Terms for genes affiliated with Mevalonic Aciduria

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

idNameGO IDScoreTop Affiliating Genes
1lipid metabolic processGO:00066299.5IL1RN, SC5D
2interleukin-1 beta productionGO:00326119.4CASP1, NLRP3
3positive regulation of interleukin-1 beta secretionGO:00507189.2CASP1, NLRP3
4nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.1CASP1, NLRP3

Sources for Mevalonic Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet