MEVA
MCID: MVL001
MIFTS: 66

Mevalonic Aciduria (MEVA)

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

Aliases & Classifications for Mevalonic Aciduria

MalaCards integrated aliases for Mevalonic Aciduria:

Name: Mevalonic Aciduria 56 12 52 25 58 73 29 13 6 15 71
Mevalonate Kinase Deficiency 12 74 25 58 36 43
Hyperimmunoglobulin D with Periodic Fever 25 29 6
Mevalonicaciduria 74 52 25
Complete Mevalonate Kinase Deficiency 52 58
Hyperimmunoglobulinemia D 25 71
Meva 56 73
Mva 52 58
Deficiency of Mevalonate Kinase 71
Periodic Fever, Dutch Type 25
Aciduria, Mevalonic 39
Hyper Igd Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
mevalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
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:

Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Mevalonic Aciduria

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. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why some people with HIDS have high levels of IgD and IgA and some do not. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, problems with movement and balance (ataxia), recurrent seizures (epilepsy), progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.

MalaCards based summary : Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and autoinflammatory syndrome, and has symptoms including vomiting, edema and arthralgia. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Innate Immune System. 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 global developmental delay

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.

NIH Rare Diseases : 52 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).

OMIM : 56 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)

KEGG : 36 Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA.

UniProtKB/Swiss-Prot : 73 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 : 74 Mevalonate kinase deficiency (MKD), is an autosomal recessive metabolic disorder that disrupts the... 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 382)
# Related Disease Score Top Affiliating Genes
1 hyper-igd syndrome 33.2 TNFRSF1A MVK IL1RN
2 autoinflammatory syndrome 31.0 NLRP3 NLRP12 NLRC4
3 smallpox 30.6 TNF IL1RN IL1B IL18
4 cryopyrin-associated periodic syndrome 30.6 NLRP3 IL1RN
5 familial cold autoinflammatory syndrome 1 30.4 NLRP3 MEFV CASP1
6 wells syndrome 30.2 TNFRSF1A NLRP3 MEFV IL1B
7 relapsing fever 30.2 TNFRSF1A TNF MVK MEFV
8 congenital cytomegalovirus 30.0 TNF IL1B
9 brucellosis 30.0 TNF MEFV IL1RN IL18
10 hereditary periodic fever syndrome 29.9 TNFRSF1A TNF NLRP3 MEFV
11 keratitis, hereditary 29.9 TNF NLRP3 IL1B
12 toxic shock syndrome 29.8 TNFRSF1A TNF IL1RN IL1B
13 chikungunya 29.8 TNF IL1B IL18
14 neutropenia 29.8 TNFRSF1A TNF IL1RN IL1B
15 amyloidosis 29.7 TNFRSF1A TNF NLRP3 MEFV IL1RN IL1B
16 aseptic meningitis 29.7 TNF NLRP3 IL1RN IL1B
17 dermatitis 29.7 TNF NOD2 IL1B IL18
18 visceral leishmaniasis 29.7 TNF IL1B IL18
19 leishmaniasis 29.6 TNFRSF1A TNF IL1B IL18
20 pericarditis 29.6 TNFRSF1A TNF MEFV IL1RN IL1B
21 stomatitis 29.6 TNF NLRP3 MEFV IL1RN IL1B
22 toxoplasmosis 29.6 TNFRSF1A TNF IL1B CASP1
23 systemic onset juvenile idiopathic arthritis 29.5 TNF IL1RN IL1B IL18
24 diarrhea 29.4 TNF NOD2 MVK MEFV IL1B
25 acquired immunodeficiency syndrome 29.4 TNFRSF1B TNFRSF1A TNF IL1B CASP1
26 uveitis 29.4 TNFRSF1B TNFRSF1A TNF NOD2 IL1B
27 colitis 29.4 TNF NOD2 IL1B IL18
28 relapsing-remitting multiple sclerosis 29.3 TNF IL1RN IL1B IL18
29 peritonitis 29.3 TNF NLRP3 MEFV IL1B IL18
30 pharyngitis 29.2 TNFRSF1B TNF NLRP3 MVK MEFV IL1RN
31 macrophage activation syndrome 29.2 TNFRSF1B TNFRSF1A TNF NLRC4 IL18
32 exanthem 29.1 TNFRSF1B TNF NLRP3 MVK MEFV IL1RN
33 proteasome-associated autoinflammatory syndrome 1 29.0 TNF NLRP3 MVK MEFV IL1RN IL1B
34 thrombocytopenia 29.0 TNFRSF1A TNF NLRP3 IL1RN IL1B IL18
35 bacterial infectious disease 28.8 TNF NOD2 IL1RN IL1B IL18 CASP1
36 juvenile rheumatoid arthritis 28.8 TNFRSF1B TNFRSF1A TNF IL1RN IL1B IL18
37 adult-onset still's disease 28.8 TNFRSF1A TNF NLRP3 MEFV IL1RN IL1B
38 autoimmune disease 28.7 TNFRSF1B TNFRSF1A TNF IL1RN IL1B IL18
39 sarcoidosis 1 28.6 TNFRSF1B TNF NOD2 IL1RN IL1B IL18
40 osteomyelitis 28.2 TNF NOD2 NLRP3 LPIN2 IL1RN IL1B
41 malaria 28.1 TNFRSF1B TNFRSF1A TNF NLRP3 NLRP12 IL1RN
42 familial mediterranean fever 28.0 TNFRSF1A TNF PSTPIP1 NOD2 NLRP3 MVK
43 familial cold autoinflammatory syndrome 27.6 PSTPIP1 NOD2 NLRP3 NLRP12 NLRC4 MVK
44 periodic fever, familial, autosomal dominant 27.3 TNFRSF1B TNFRSF1A TNF PSTPIP1 NOD2 NLRP3
45 inflammatory bowel disease 27.2 TNFRSF1B TNFRSF1A TNF PSTPIP1 NOD2 NLRP3
46 cinca syndrome 27.2 TNFRSF1A PSTPIP1 NOD2 NLRP3 NLRP12 NLRC4
47 muckle-wells syndrome 26.7 TNFRSF1A TNF PSTPIP1 NOD2 NLRP3 NLRP12
48 mosaic variegated aneuploidy syndrome 12.5
49 peho syndrome 11.4
50 mosaic variegated aneuploidy syndrome 1 11.4

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



Diseases related to Mevalonic Aciduria

Symptoms & Phenotypes for Mevalonic Aciduria

Human phenotypes related to Mevalonic Aciduria:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
9 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
12 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
13 seizure 31 hallmark (90%) HP:0001250
14 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
17 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
18 kyphoscoliosis 31 occasional (7.5%) HP:0002751
19 seizures 58 Very frequent (99-80%)
20 failure to thrive 31 HP:0001508
21 vomiting 31 HP:0002013
22 elevated serum creatine kinase 31 HP:0003236
23 edema 31 HP:0000969
24 arthralgia 31 HP:0002829
25 nystagmus 31 HP:0000639
26 low-set ears 31 HP:0000369
27 elevated hepatic transaminase 31 HP:0002910
28 thrombocytopenia 31 HP:0001873
29 cerebellar atrophy 31 HP:0001272
30 lymphadenopathy 31 HP:0002716
31 posteriorly rotated ears 31 HP:0000358
32 cerebral atrophy 31 HP:0002059
33 diarrhea 31 HP:0002014
34 generalized hypotonia 31 HP:0001290
35 leukocytosis 31 HP:0001974
36 progressive cerebellar ataxia 31 HP:0002073
37 agenesis of cerebellar vermis 31 HP:0002335
38 psychomotor retardation 31 HP:0025356
39 morbilliform rash 31 HP:0012282
40 normocytic hypoplastic anemia 31 HP:0004819
41 fluctuating splenomegaly 31 HP:0006268
42 fluctuating hepatomegaly 31 HP:0006564
43 elevated urine mevalonic acid 31 HP:0032638
44 increased circulating igd level 31 HP:0410246

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly
dolichocephaly
wide, irregular fontanels

Growth Other:
failure to thrive

Laboratory Abnormalities:
elevated serum creatine kinase
elevated transaminases
serum cholesterol low or normal
elevated leukotriene e(4)
decreased ubiquinone-10
more
Head And Neck Eyes:
nystagmus
blue sclerae
downslanting palpebral fissures
central cataracts
nuclear cataract (in some patients) retinal dystrophy (in some patients)
more
Hematology:
thrombocytopenia
leukocytosis
normocytic hypoplastic anemia

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
agenesis of cerebellar vermis
psychomotor retardation
hypotonia
more
Abdomen Liver:
fluctuating hepatomegaly

Skeletal Spine:
kyphoscoliosis (in some patients)

Growth Height:
short stature

Abdomen Gastrointestinal:
vomiting
diarrhea

Skin Nails Hair Skin:
edema
morbilliform rash

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

Head And Neck Face:
triangular face

Abdomen Spleen:
fluctuating splenomegaly

Skeletal Limbs:
arthralgias

Immunology:
elevated igd

Clinical features from OMIM:

610377

UMLS symptoms related to Mevalonic Aciduria:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.73 CASP1 NOD2 TNFRSF1B
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.73 CARD14 CASP1 IL18 IL1B NLRC4 NLRP3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 IL18 IL1B NLRP3 TNF TNFRSF1A
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 CASP1 IL18 IL1B NLRP3 NOD2 TNF

MGI Mouse Phenotypes related to Mevalonic Aciduria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 CASP1 IL18 IL1B IL1RL2 IL1RN LPIN2
2 cellular MP:0005384 10.23 CARD14 CASP1 IL18 IL1RN MEFV NLRC4
3 growth/size/body region MP:0005378 10.22 CARD14 HMGCR IL18 IL1B IL1RN LPIN2
4 homeostasis/metabolism MP:0005376 10.2 CASP1 GALK1 HMGCR IL18 IL1B IL1RL2
5 immune system MP:0005387 10.16 CARD14 CASP1 IL18 IL1B IL1RL2 IL1RN
6 digestive/alimentary MP:0005381 10.03 CASP1 IL18 NLRP12 NLRP3 NOD2 TNF
7 integument MP:0010771 9.9 CARD14 CASP1 IL18 IL1B IL1RL2 IL1RN
8 mortality/aging MP:0010768 9.8 CARD14 CASP1 HMGCR IL18 IL1B IL1RN
9 skeleton MP:0005390 9.32 IL1B IL1RN LPIN2 MEFV NLRC4 NLRP3

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
Colchicine Approved Phase 3 64-86-8 2833 6167
2 Immunoglobulins Phase 3
3 Antibodies Phase 3
4 Pharmaceutical Solutions Phase 3
5 Immunoglobulins, Intravenous Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Extension Study of CACZ885N2301 (NCT02059291), Multi-center, Open Label Study of Canakinumab in Japanese Patients With Periodic Fever Syndromes (Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), Hyper Immunoglobulin D Syndrome ((Also Known as Mevalonate Kinase Deficiency) (HIDS/MKD), or Colchicine Resistant/Intolerant Familial Mediterranean Fever (crFMF)) Completed NCT02911857 Phase 3
2 A Randomized, Double-blind, Placebo Controlled Study of Canakinumab in Patients With Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF), With Subsequent Randomized Withdrawal/Dosing Frequency Reduction and Open-label Long-term Treatment Epochs Completed NCT02059291 Phase 3 Canakinumab;Placebo
3 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
4 An Open-label, Multicenter, Efficacy and Safety Pilot Study of 6-month Canakinumab Treatment With up to 6-month Follow-up in Patients With Active Hyper-IgD Syndrome (HIDS) Completed NCT01303380 Phase 2 Canakinumab
5 Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases Unknown status NCT03569644
6 MEVALONATE KINASE GENE MUTATIONS AND THEIR CLINICAL CORRELATIONS IN BEHÇET'S DISEASE Completed NCT01780363
7 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
8 Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency Terminated NCT00260299
9 B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) Form of Mevalonate Kinase Deficiency (MKD) 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:

40
Skin, Liver, Spleen, Kidney, Eye, Lymph Node, Bone

Publications for Mevalonic Aciduria

Articles related to Mevalonic Aciduria:

(show top 50) (show all 296)
# Title Authors PMID Year
1
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. 56 6 61
16835861 2006
2
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. 61 6 56
12563048 2003
3
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. 56 6 61
8386351 1993
4
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. 61 6
24084495 2013
5
Retinitis pigmentosa in mevalonate kinase deficiency. 61 6
16435210 2005
6
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. 6 61
11313769 2001
7
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. 61 6
10401001 1999
8
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. 56 61
9714005 1998
9
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. 61 56
8352861 1993
10
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. 61 6
1377680 1992
11
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. 61 56
2850914 1988
12
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. 56 61
3012338 1986
13
Mevalonic aciduria: an inborn error of cholesterol biosynthesis? 56 61
4053401 1985
14
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 6
22983302 2012
15
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. 6
15536479 2005
16
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. 6
10369262 1999
17
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. 6
10369261 1999
18
Systemic autoinflammatory diseases: Clinical state of the art. 61
32546426 2020
19
Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab. 61
32324125 2020
20
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database. 61
32125423 2020
21
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature. 61
32252977 2020
22
Autoinflammatory diseases in childhood, part 1: monogenic syndromes. 61
32065272 2020
23
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients. 61
31471011 2020
24
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings. 61
32060250 2020
25
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative. 61
32066461 2020
26
Mevalonic aciduria: Does stem cell transplant fully cure disease? 61
31651069 2020
27
Canakinumab in colchicine resistant familial Mediterranean fever and other pediatric rheumatic diseases. 61
32419407 2020
28
What's new in autoinflammation? 61
30552566 2019
29
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease. 61
31430439 2019
30
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome. 61
31769858 2019
31
Targeting cytokines to treat autoinflammatory diseases. 61
30394352 2019
32
Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes. 61
30447083 2019
33
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report. 61
31443670 2019
34
Classification criteria for autoinflammatory recurrent fevers. 61
31018962 2019
35
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease. 61
31096039 2019
36
Immunometabolic function of cholesterol in cardiovascular disease and beyond. 61
31095280 2019
37
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness. 61
31325964 2019
38
Monocyte Production of IFN-γ Is Interleukin-12 Dependent in a Model of Mevalonate Kinase Deficiency. 61
31013450 2019
39
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. 61
30783801 2019
40
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. 61
30385706 2019
41
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism? 61
30632494 2019
42
Canakinumab for the treatment of hyperimmunoglobulin D syndrome. 61
30652926 2019
43
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma. 61
30675208 2019
44
Autoinflammatory diseases: State of the art. 61
30686513 2019
45
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. 61
32082075 2019
46
Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study. 61
31620089 2019
47
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. 61
31474985 2019
48
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. 61
29451047 2019
49
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency. 61
30030262 2018
50
In silico validation of the Autoinflammatory Disease Damage Index. 61
30077992 2018

Variations for Mevalonic Aciduria

ClinVar genetic disease variations for Mevalonic Aciduria:

6 (show top 50) (show all 183) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MVK NM_000431.4(MVK):c.545T>A (p.Leu182Ter)SNV Pathogenic 573681 rs1566147222 12:110023844-110023844 12:109586039-109586039
2 MVK NM_000431.4(MVK):c.58C>A (p.His20Asn)SNV Pathogenic 649235 12:110012685-110012685 12:109574880-109574880
3 MVK NM_000431.4(MVK):c.380C>T (p.Pro127Leu)SNV Pathogenic 812109 12:110019208-110019208 12:109581403-109581403
4 MVK NM_000431.4(MVK):c.630G>A (p.Trp210Ter)SNV Pathogenic 812112 12:110023929-110023929 12:109586124-109586124
5 MVK NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)SNV Pathogenic 11930 rs104895317 12:110032947-110032947 12:109595142-109595142
6 MVK NM_000431.4(MVK):c.59A>C (p.His20Pro)SNV Pathogenic 11931 rs104895295 12:110012686-110012686 12:109574881-109574881
7 MVK NM_000431.4(MVK):c.803T>C (p.Ile268Thr)SNV Pathogenic 11932 rs104895304 12:110029080-110029080 12:109591275-109591275
8 MVK NM_000431.4(MVK):c.494C>T (p.Pro165Leu)SNV Pathogenic 11933 rs121917790 12:110019322-110019322 12:109581517-109581517
9 MVK NM_000431.4(MVK):c.928G>A (p.Val310Met)SNV Pathogenic 11934 rs104895319 12:110032875-110032875 12:109595070-109595070
10 MVK NM_000431.4(MVK):c.16_34del (p.Leu6fs)deletion Pathogenic 11935 rs104895334 12:110012643-110012661 12:109574838-109574856
11 MVK NM_000431.4(MVK):c.604G>A (p.Gly202Arg)SNV Pathogenic 39726 rs104895301 12:110023903-110023903 12:109586098-109586098
12 MVK NM_000431.3(MVK):c.417dupC (p.Gly140Argfs)duplication Pathogenic 39727 rs104895373 12:110019239-110019240 12:109581434-109581435
13 MVK NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs)duplication Pathogenic 88836 rs104895322 12:110012698-110012699 12:109574893-109574894
14 MVK NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs)duplication Pathogenic 88837 rs104895323 12:110019245-110019246 12:109581440-109581441
15 MVK NM_000431.4(MVK):c.902A>C (p.Asn301Thr)SNV Pathogenic 11928 rs121917789 12:110032849-110032849 12:109595044-109595044
16 MVK NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)SNV Pathogenic 97572 rs104895360 12:110034353-110034353 12:109596548-109596548
17 MVK NM_000431.4(MVK):c.442G>A (p.Ala148Thr)SNV Pathogenic 97592 rs104895298 12:110019270-110019270 12:109581465-109581465
18 MVK NM_000431.4(MVK):c.564G>A (p.Trp188Ter)SNV Pathogenic 97597 rs104895311 12:110023863-110023863 12:109586058-109586058
19 MVK NM_000431.4(MVK):c.709A>T (p.Thr237Ser)SNV Pathogenic 97612 rs104895366 12:110028607-110028607 12:109590802-109590802
20 MVK NM_000431.4(MVK):c.830G>A (p.Arg277His)SNV Pathogenic 97631 rs104895352 12:110029107-110029107 12:109591302-109591302
21 MVK NM_000431.4(MVK):c.608T>C (p.Val203Ala)SNV Pathogenic/Likely pathogenic 97601 rs104895332 12:110023907-110023907 12:109586102-109586102
22 MVK NM_000431.4(MVK):c.346T>C (p.Tyr116His)SNV Pathogenic/Likely pathogenic 97581 rs104895382 12:110017726-110017726 12:109579921-109579921
23 MVK NM_000431.4(MVK):c.687_688TC[1] (p.Leu230fs)short repeat Likely pathogenic 802890 12:110028584-110028585 12:109590779-109590780
24 MVK NM_000431.4(MVK):c.794T>G (p.Leu265Arg)SNV Likely pathogenic 97627 rs104895316 12:110029071-110029071 12:109591266-109591266
25 MVK NM_000431.4(MVK):c.500C>T (p.Pro167Leu)SNV Likely pathogenic 39725 rs104895300 12:110019328-110019328 12:109581523-109581523
26 MVK NM_000431.4(MVK):c.987C>G (p.Ser329Arg)SNV Likely pathogenic 848443 12:110032934-110032934 12:109595129-109595129
27 MVK NM_000431.4(MVK):c.768+4A>GSNV Likely pathogenic 488556 rs1295630463 12:110028670-110028670 12:109590865-109590865
28 MVK NM_000431.4(MVK):c.527+10G>ASNV Conflicting interpretations of pathogenicity 791747 12:110019365-110019365 12:109581560-109581560
29 MVK NM_000431.4(MVK):c.1129G>A (p.Val377Ile)SNV Conflicting interpretations of pathogenicity 11929 rs28934897 12:110034320-110034320 12:109596515-109596515
30 MVK NM_000431.4(MVK):c.1139A>G (p.His380Arg)SNV Conflicting interpretations of pathogenicity 97569 rs104895324 12:110034330-110034330 12:109596525-109596525
31 MVK NM_000431.4(MVK):c.1005C>T (p.Gly335=)SNV Conflicting interpretations of pathogenicity 97560 rs104895357 12:110032952-110032952 12:109595147-109595147
32 MVK NM_000431.4(MVK):c.441C>T (p.Ala147=)SNV Conflicting interpretations of pathogenicity 138314 rs138342076 12:110019269-110019269 12:109581464-109581464
33 MVK NM_000431.4(MVK):c.924C>T (p.Leu308=)SNV Conflicting interpretations of pathogenicity 193585 rs72648042 12:110032871-110032871 12:109595066-109595066
34 MVK NM_000431.4(MVK):c.876C>T (p.Leu292=)SNV Conflicting interpretations of pathogenicity 246330 rs370301290 12:110029153-110029153 12:109591348-109591348
35 MVK NM_000431.4(MVK):c.238G>A (p.Val80Ile)SNV Conflicting interpretations of pathogenicity 97578 rs76914224 12:110017618-110017618 12:109579813-109579813
36 MVK NM_000431.4(MVK):c.591C>T (p.His197=)SNV Conflicting interpretations of pathogenicity 97599 rs104895329 12:110023890-110023890 12:109586085-109586085
37 MVK NM_000431.4(MVK):c.226+4A>GSNV Conflicting interpretations of pathogenicity 234378 rs145732290 12:110013954-110013954 12:109576149-109576149
38 MVK NM_000431.4(MVK):c.-55G>CSNV Uncertain significance 307087 rs886048929 12:110011638-110011638 12:109573833-109573833
39 MVK NM_000431.4(MVK):c.-33G>ASNV Uncertain significance 307088 rs886048930 12:110011660-110011660 12:109573855-109573855
40 MVK NM_000431.4(MVK):c.-15G>ASNV Uncertain significance 307089 rs567278499 12:110011678-110011678 12:109573873-109573873
41 MVK NM_000431.4(MVK):c.302G>A (p.Cys101Tyr)SNV Uncertain significance 307092 rs886048931 12:110017682-110017682 12:109579877-109579877
42 MVK NM_000431.4(MVK):c.317G>A (p.Arg106His)SNV Uncertain significance 307093 rs778337320 12:110017697-110017697 12:109579892-109579892
43 MVK NM_000431.4(MVK):c.331G>A (p.Ala111Thr)SNV Uncertain significance 307094 rs371257609 12:110017711-110017711 12:109579906-109579906
44 MVK NM_000431.4(MVK):c.598C>T (p.Pro200Ser)SNV Uncertain significance 307098 rs886048932 12:110023897-110023897 12:109586092-109586092
45 MVK NM_000431.4(MVK):c.*308G>ASNV Uncertain significance 307104 rs886048935 12:110034690-110034690 12:109596885-109596885
46 MVK NM_000431.4(MVK):c.*550G>ASNV Uncertain significance 307109 rs886048936 12:110034932-110034932 12:109597127-109597127
47 MVK NM_000431.4(MVK):c.*601G>ASNV Uncertain significance 307110 rs536969522 12:110034983-110034983 12:109597178-109597178
48 MVK NM_000431.4(MVK):c.371+13T>CSNV Uncertain significance 307095 rs201201471 12:110017764-110017764 12:109579959-109579959
49 MVK NM_000431.4(MVK):c.527+8T>CSNV Uncertain significance 307096 rs377547988 12:110019363-110019363 12:109581558-109581558
50 MVK NM_000431.4(MVK):c.527+13C>ASNV Uncertain significance 307097 rs199670546 12:110019368-110019368 12:109581563-109581563

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

73
# 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

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

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 TNFRSF1B TNFRSF1A TNF PSTPIP1 NOD2 NLRP3
2
Show member pathways
13.31 TNFRSF1B TNFRSF1A TNF NOD2 IL1RN IL1RL2
3
Show member pathways
12.8 TNFRSF1A TNF NLRP3 IL1B IL18 CASP1
4
Show member pathways
12.69 TNFRSF1B TNFRSF1A TNF IL1B CARD14
5
Show member pathways
12.58 TNFRSF1B TNFRSF1A TNF IL1B CASP1
6 12.55 TNFRSF1B TNFRSF1A TNF IL1RN IL1B
7
Show member pathways
12.49 TNF NOD2 NLRP3 NLRP12 NLRC4 IL1RN
8 12.36 TNFRSF1A TNF NLRP3 NLRC4 IL1B IL18
9
Show member pathways
12.32 TNFRSF1B TNFRSF1A TNF IL18
10
Show member pathways
12.29 NOD2 IL1RN IL1B CASP1
11 12.26 TNFRSF1A TNF NLRP3 IL1B IL18 CASP1
12 12.24 TNFRSF1B TNFRSF1A TNF CASP1
13 12.21 TNFRSF1A TNF NOD2 IL1B IL18
14
Show member pathways
12.2 TNF NLRP3 IL1B CASP1
15 12.18 TNFRSF1A TNF NLRP3 NLRC4 IL1B IL18
16
Show member pathways
12.16 TNFRSF1A TNF NLRP3 IL1B CASP1
17 11.98 TNFRSF1B TNF IL1B IL18
18 11.96 TNFRSF1B TNFRSF1A TNF NOD2 IL1B
19 11.96 TNF NLRP3 MEFV IL1B IL18 CASP1
20 11.92 TNFRSF1A TNF IL1B CARD14
21
Show member pathways
11.91 PSTPIP1 NOD2 NLRP3 NLRC4 MEFV CASP1
22 11.87 TNFRSF1B TNFRSF1A TNF CASP1
23 11.84 TNF IL1B IL18
24
Show member pathways
11.78 TNFRSF1B TNFRSF1A TNF
25 11.77 TNF IL1B IL18
26 11.75 TNF NLRP3 IL1B CASP1
27
Show member pathways
11.73 TNFRSF1B TNFRSF1A TNF
28 11.7 TNFRSF1B TNFRSF1A TNF
29
Show member pathways
11.65 TNFRSF1A TNF IL1B
30 11.61 TNF NLRC4 IL1B IL18 CASP1
31 11.58 TNF PSTPIP1 NOD2 NLRP3 NLRP12 NLRC4
32 11.57 TNFRSF1B TNFRSF1A TNF
33
Show member pathways
11.54 TNFRSF1B TNFRSF1A TNF
34 11.53 TNF IL1B IL18
35 11.51 TNF IL1B IL18
36 11.42 TNFRSF1B TNFRSF1A TNF IL1RN IL1B IL18
37 11.38 TNF IL1B IL18
38
Show member pathways
11.37 TNFRSF1B TNFRSF1A TNF
39 11.31 TNF IL1B IL18
40 11.3 TNFRSF1B TNFRSF1A TNF
41 11.17 NLRP3 IL1B IL18
42 11.17 NOD2 NLRP3 NLRP12 NLRC4 MEFV IL1B
43 11.12 TNFRSF1A TNF NOD2
44 11.12 TNF IL1B IL18 CASP1
45 10.55 IL1B IL18 CASP1

GO Terms for Mevalonic Aciduria

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

# Name GO ID Score Top Affiliating Genes
1 NLRP3 inflammasome complex GO:0072559 9.16 NLRP3 CASP1
2 IPAF inflammasome complex GO:0072557 8.96 NLRC4 CASP1
3 tumor necrosis factor receptor superfamily complex GO:0002947 8.62 TNFRSF1B TNFRSF1A

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.33 TNFRSF1A PSTPIP1 NLRP3 NLRP12 IL1RN IL1RL2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.24 TNFRSF1A TNF NOD2 NLRP3 LPIN2 IL1B
3 immune system process GO:0002376 10.18 PSTPIP1 NOD2 NLRP3 NLRC4 MEFV IL1RL2
4 innate immune response GO:0045087 10.13 PSTPIP1 NOD2 NLRP3 NLRC4 MEFV IL1RL2
5 apoptotic process GO:0006915 10.13 TNFRSF1B TNFRSF1A NLRP3 NLRC4 IL1B CASP1
6 immune response GO:0006955 10.11 TNFRSF1B TNF IL1RN IL1B IL18
7 regulation of apoptotic process GO:0042981 10.03 NOD2 NLRC4 CASP1 CARD14
8 defense response to bacterium GO:0042742 10.02 TNFRSF1A TNF NOD2 NLRC4
9 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.97 TNFRSF1A TNF NOD2 IL1B CASP1
10 defense response GO:0006952 9.96 TNFRSF1A TNF NOD2 NLRP3
11 tumor necrosis factor-mediated signaling pathway GO:0033209 9.91 TNFRSF1B TNFRSF1A TNF CARD14
12 positive regulation of JNK cascade GO:0046330 9.89 TNF NOD2 IL1B
13 cellular response to mechanical stimulus GO:0071260 9.89 TNFRSF1A IL1B CASP1
14 interleukin-1-mediated signaling pathway GO:0070498 9.89 NOD2 IL1RN IL1RL2 IL1B
15 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.88 TNFRSF1A TNF IL18
16 cellular response to cytokine stimulus GO:0071345 9.87 NLRP12 IL1RL2 CASP1
17 positive regulation of smooth muscle cell proliferation GO:0048661 9.87 TNF IL18 HMGCR
18 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.86 TNF NLRP3 CASP1
19 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.85 TNFRSF1B TNFRSF1A TNF
20 cellular response to organic cyclic compound GO:0071407 9.85 TNF NOD2 IL1B IL18
21 positive regulation of inflammatory response GO:0050729 9.85 TNFRSF1A TNF NLRP12 IL1B IL18
22 cellular response to lipopolysaccharide GO:0071222 9.85 TNFRSF1B TNF NOD2 NLRP3 IL1B CASP1
23 positive regulation of interferon-gamma production GO:0032729 9.84 TNF IL1B IL18
24 positive regulation of interleukin-6 production GO:0032755 9.83 TNF NOD2 IL1RL2 IL1B
25 regulation of inflammatory response GO:0050727 9.83 TNF NOD2 NLRP3 IL1RL2 CASP1
26 lipopolysaccharide-mediated signaling pathway GO:0031663 9.81 TNF IL1B IL18
27 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.8 TNF NLRP3 NLRP12 NLRC4 CASP1
28 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.78 TNF NLRP12 IL1B
29 positive regulation of interleukin-1 beta secretion GO:0050718 9.78 NOD2 NLRP3 NLRP12 CASP1
30 positive regulation of interleukin-8 production GO:0032757 9.77 TNF NOD2 IL1B
31 cytokine-mediated signaling pathway GO:0019221 9.76 TNFRSF1B TNFRSF1A TNF IL1RN IL1RL2 IL1B
32 positive regulation of interleukin-1 beta production GO:0032731 9.75 NOD2 NLRC4 CASP1
33 positive regulation of interleukin-17 production GO:0032740 9.73 NOD2 IL18
34 positive regulation of chemokine biosynthetic process GO:0045080 9.73 TNF IL1B
35 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.73 NLRP12 NLRC4
36 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.73 TNFRSF1B TNF IL1B
37 negative regulation of inflammatory response GO:0050728 9.73 TNFRSF1B TNFRSF1A NLRP3 NLRP12 MVK MEFV
38 positive regulation of ceramide biosynthetic process GO:2000304 9.72 TNFRSF1A TNF
39 detection of bacterium GO:0016045 9.72 NOD2 NLRC4
40 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.72 IL1B IL18
41 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.72 TNF NOD2 NLRP12 IL1B IL18
42 negative regulation of amyloid-beta clearance GO:1900222 9.71 TNF HMGCR
43 interleukin-6 production GO:0032635 9.71 IL1B IL18
44 positive regulation of neuroinflammatory response GO:0150078 9.71 TNF IL1B IL18
45 death-inducing signaling complex assembly GO:0071550 9.7 TNFRSF1A TNF
46 cellular response to peptidoglycan GO:0071224 9.69 NOD2 NLRP3
47 positive regulation of T-helper 2 cell differentiation GO:0045630 9.69 NLRP3 IL18
48 regulation of establishment of endothelial barrier GO:1903140 9.69 TNFRSF1A TNF IL1B
49 positive regulation of type 2 immune response GO:0002830 9.68 NOD2 NLRP3
50 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.67 IL1B IL18

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 TNFRSF1B TNFRSF1A TNF PSTPIP1 NOD2 NLRP3
2 cytokine activity GO:0005125 9.67 TNF IL1RN IL1B IL18
3 identical protein binding GO:0042802 9.56 TNF PSTPIP1 NLRP3 NLRC4 MVK MEFV
4 tumor necrosis factor-activated receptor activity GO:0005031 9.32 TNFRSF1B TNFRSF1A
5 tumor necrosis factor binding GO:0043120 9.16 TNFRSF1B TNFRSF1A
6 CARD domain binding GO:0050700 8.8 NOD2 CASP1 CARD14

Sources for Mevalonic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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