Mevalonate Kinase Deficiency

Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.

Synonym
Mevalonate Kinase Deficiency

Excerpt	Reference
"Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype."	( Boes, ML; Frenkel, J; Ter Haar, NM; van der Burgh, R, 2013)
"Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype."	( Prasad, C; Rupar, CA; Salvadori, MI, 2012)
"Mevalonate kinase deficiency is a rare disease whose worst manifestation, characterised by severe neurologic impairment, is called mevalonic aciduria."	( Crovella, S; Kleiner, G; Marcuzzi, A; Monasta, L; Piscianz, E; Tricarico, PM, 2015)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	0 (0.00)	12.5806
2000's	11 (13.41)	18.1394
2010's	60 (73.17)	28.8240
2020's	11 (13.41)	9.53

Drug	Relationship Strength	Studies	Trials
phosphomevalonic acid	low	4	0
methylmalonic acid	low	1	0
alendronate	low	6	0
azathioprine	low	1	0
prednisolone	low	1	0
prednisone	low	4	0
carbostyril	low	2	0
colchicine	medium	14	1
thiazoles	low	1	0
trolamine salicylate	low	9	0
clodronic acid	low	1	0
lovastatin	low	3	0
simvastatin	low	4	0
25-hydroxycholesterol	low	1	0
sertraline	low	1	0
7-hydroxystaurosporine	low	1	0
phytol	low	1	0
lonafarnib	low	1	0
tipifarnib	low	2	0
mevalonic acid	low	32	0
farnesol	low	1	0
3-hydroxy-3-methylglutaryl-coenzyme a	low	1	0
lycopene	low	1	0
geranylgeranyl pyrophosphate	low	5	0
geraniol	low	4	0
fatostatin	low	1	0
geranylgeraniol	low	3	0
coenzyme q10	low	1	0
selenocysteine	low	1	0
mevalonolactone	low	3	0
dolichols	low	1	0
bafilomycin a1	low	1	0
manumycin	low	2	0
staurosporine	low	1	0
tak 475	low	2	0
ubiquinone	low	3	0
piperidines	low	3	0

Protein Targets (363)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
TDP1 protein	10	0	0	10
cytochrome P450 family 3 subfamily A polypeptide 4	7	0	0	7
estrogen nuclear receptor alpha	10	0	0	10
peripheral myelin protein 22	5	0	0	5
Alpha-crystallin B chain	0	0	1	1
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	4	1	5
Cellular tumor antigen p53	8	0	0	8
Integrin beta-3	0	0	1	1
Integrin alpha-V	0	0	1	1
Nuclear receptor ROR-gamma	4	0	1	5
Glutamate receptor ionotropic, NMDA 1	0	0	1	1
Sterol regulatory element-binding protein 2	0	2	0	2
Glutamate receptor ionotropic, NMDA 2A	0	0	1	1
Oxysterols receptor LXR-alpha	0	0	1	1
Glutamate receptor ionotropic, NMDA 2B	0	0	1	1
Oxysterol-binding protein 2	0	0	1	1
NPC1-like intracellular cholesterol transporter 1	0	0	1	1
Serine/threonine-protein kinase Chk1	0	2	0	2
3-phosphoinositide-dependent protein kinase 1	0	1	0	1
Cyclin-dependent kinase 1	0	1	0	1
Cyclin-dependent kinase 4	0	1	0	1
Cyclin-A2	0	1	0	1
G1/S-specific cyclin-D1	0	1	0	1
Cyclin-dependent kinase 2	0	1	0	1
Chain A, farnesyl pyrophosphate synthase	0	1	0	1
Geranylgeranyl pyrophosphate synthase	0	2	0	2
Farnesyl pyrophosphate synthase	0	4	0	4
Acetylcholinesterase	0	1	0	1
Hypoxanthine-guanine phosphoribosyltransferase	0	2	0	2
Farnesyl pyrophosphate synthase	0	2	0	2
Farnesyl pyrophosphate synthase	0	1	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	4	0	0	4
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	3	0	0	3
Chain A, Ferritin light chain	6	0	0	6
interleukin 8	2	0	0	2
acetylcholinesterase	1	0	0	1
thioredoxin reductase	2	0	0	2
phosphopantetheinyl transferase	5	0	0	5
RAR-related orphan receptor gamma	6	0	0	6
SMAD family member 2	3	0	0	3
ATAD5 protein, partial	3	0	0	3
Fumarate hydratase	5	0	0	5
SMAD family member 3	3	0	0	3
GLI family zinc finger 3	7	0	0	7
Microtubule-associated protein tau	4	0	0	4
AR protein	9	0	0	9
thioredoxin glutathione reductase	3	0	0	3
nuclear receptor subfamily 1, group I, member 3	6	0	0	6
EWS/FLI fusion protein	5	0	0	5
glucocorticoid receptor [Homo sapiens]	10	0	0	10
retinoic acid nuclear receptor alpha variant 1	8	0	0	8
retinoid X nuclear receptor alpha	6	0	0	6
estrogen-related nuclear receptor alpha	7	0	0	7
farnesoid X nuclear receptor	4	0	0	4
pregnane X nuclear receptor	7	0	0	7
G	4	0	0	4
polyprotein	5	0	0	5
P53	1	0	0	1
peroxisome proliferator-activated receptor delta	6	0	0	6
peroxisome proliferator activated receptor gamma	5	0	0	5
arylsulfatase A	1	0	0	1
IDH1	5	0	0	5
euchromatic histone-lysine N-methyltransferase 2	8	0	0	8
aryl hydrocarbon receptor	3	0	0	3
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	7	0	0	7
thyroid stimulating hormone receptor	1	0	0	1
activating transcription factor 6	4	0	0	4
v-jun sarcoma virus 17 oncogene homolog (avian)	7	0	0	7
Histone H2A.x	2	0	0	2
Bloom syndrome protein isoform 1	2	0	0	2
peripheral myelin protein 22 isoform 1	1	0	0	1
hemoglobin subunit beta	1	0	0	1
cellular tumor antigen p53 isoform a	2	0	0	2
thyroid hormone receptor beta isoform 2	8	0	0	8
heat shock protein beta-1	4	0	0	4
nuclear factor erythroid 2-related factor 2 isoform 1	6	0	0	6
DNA polymerase iota isoform a (long)	1	0	0	1
geminin	8	0	0	8
survival motor neuron protein isoform d	2	0	0	2
cytochrome P450 3A4 isoform 1	5	0	0	5
M-phase phosphoprotein 8	1	0	0	1
muscleblind-like protein 1 isoform 1	2	0	0	2
muscarinic acetylcholine receptor M1	2	0	0	2
lamin isoform A-delta10	7	0	0	7
Gamma-aminobutyric acid receptor subunit pi	5	0	0	5
ATP-binding cassette sub-family C member 3	0	5	0	5
Multidrug resistance-associated protein 4	0	5	0	5
Bile salt export pump	0	1	0	1
Voltage-dependent calcium channel gamma-2 subunit	4	0	0	4
Bile salt export pump	0	6	0	6
Interferon beta	8	0	0	8
HLA class I histocompatibility antigen, B alpha chain	4	0	0	4
Gamma-aminobutyric acid receptor subunit beta-1	5	0	0	5
Gamma-aminobutyric acid receptor subunit delta	5	0	0	5
Gamma-aminobutyric acid receptor subunit gamma-2	5	0	0	5
Glutamate receptor 2	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-5	5	0	0	5
Gamma-aminobutyric acid receptor subunit alpha-3	5	0	0	5
Gamma-aminobutyric acid receptor subunit gamma-1	5	0	0	5
Gamma-aminobutyric acid receptor subunit alpha-2	5	0	0	5
Gamma-aminobutyric acid receptor subunit alpha-4	5	0	0	5
Gamma-aminobutyric acid receptor subunit gamma-3	5	0	0	5
Gamma-aminobutyric acid receptor subunit alpha-6	5	0	0	5
Gamma-aminobutyric acid receptor subunit alpha-1	5	0	0	5
Gamma-aminobutyric acid receptor subunit beta-3	5	0	0	5
Gamma-aminobutyric acid receptor subunit beta-2	5	0	0	5
GABA theta subunit	5	0	0	5
Inositol hexakisphosphate kinase 1	4	0	0	4
Canalicular multispecific organic anion transporter 1	0	5	0	5
ATPase family AAA domain-containing protein 5	4	0	0	4
Ataxin-2	5	0	0	5
Gamma-aminobutyric acid receptor subunit epsilon	5	0	0	5
Protein-arginine deiminase type-4	0	1	0	1
cytochrome P450 2C9, partial	4	0	0	4
Adenosine receptor A3	0	1	0	1
P2X purinoceptor 3	0	1	0	1
V-type proton ATPase subunit S1	0	1	0	1
Vacuolar proton pump subunit B	0	1	0	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	2	0	0	2
Chain A, serum paraoxonase	0	1	0	1
nuclear receptor ROR-gamma isoform 1	5	0	0	5
DNA polymerase kappa isoform 1	3	0	0	3
Carbonic anhydrase 12	0	1	0	1
Carbonic anhydrase 1	0	1	0	1
Carbonic anhydrase 2	0	1	0	1
Carbonic anhydrase 3	0	1	0	1
Neutrophil cytosol factor 1	0	1	0	1
Carbonic anhydrase 4	0	1	0	1
Carbonic anhydrase 6	0	1	0	1
Carbonic anhydrase 5A, mitochondrial	0	1	0	1
Carbonic anhydrase 7	0	1	0	1
Carbonic anhydrase 9	0	1	0	1
Carbonic anhydrase 13	0	1	0	1
Poly [ADP-ribose] polymerase tankyrase-2	0	1	0	1
Carbonic anhydrase 14	0	1	0	1
Carbonic anhydrase 5B, mitochondrial	0	1	0	1
Type IV secretion-like conjugative transfer relaxase protein TraI	0	1	0	1
72 kDa type IV collagenase	0	1	0	1
Stromelysin-1	0	1	0	1
Matrix metalloproteinase-9	0	1	0	1
Macrophage metalloelastase	0	1	0	1
Chain A, Beta-lactamase	5	0	0	5
Luciferase	1	0	0	1
endonuclease IV	1	0	0	1
PAX8	0	0	0	1
pregnane X receptor	3	0	0	3
hypoxia-inducible factor 1 alpha subunit	4	0	0	4
USP1 protein, partial	6	0	0	6
PPM1D protein	4	0	0	4
Thrombopoietin	1	0	0	1
Smad3	4	0	0	4
thyroid stimulating hormone receptor	2	0	0	2
estrogen receptor 2 (ER beta)	5	0	0	5
67.9K protein	2	0	0	2
glucocerebrosidase	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	6	0	0	6
nuclear receptor subfamily 1, group I, member 2	4	0	0	4
cytochrome P450 2D6 isoform 1	1	0	0	1
nuclear receptor subfamily 0 group B member 1	0	1	0	1
cytochrome P450 2C19 precursor	1	0	0	1
cytochrome P450 2C9 precursor	2	0	0	2
chromobox protein homolog 1	2	0	0	2
thyroid hormone receptor beta isoform a	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	5	0	0	5
atrial natriuretic peptide receptor 2 precursor	2	0	0	2
flap endonuclease 1	1	0	0	1
ras-related protein Rab-9A	2	0	0	2
steroidogenic factor 1	0	1	0	1
caspase-1 isoform alpha precursor	1	0	0	1
lethal factor (plasmid)	1	0	0	1
neuropeptide S receptor isoform A	1	0	0	1
Solute carrier family 22 member 3	0	1	0	1
Tubulin alpha-1A chain	0	2	1	3
Tubulin beta chain	0	2	1	3
Plasma kallikrein	0	0	0	1
Tubulin beta-4A chain	0	2	2	5
ATP-dependent translocase ABCB1	0	1	0	1
Tubulin beta chain	0	2	2	5
ATP-dependent translocase ABCB1	0	5	0	6
Cytochrome P450 3A4	0	3	0	3
Tubulin alpha-3C chain	0	2	2	5
Serine/threonine-protein kinase pim-1	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
Histamine H2 receptor	2	0	0	2
Tubulin alpha-1B chain	0	2	2	5
Tubulin alpha-4A chain	0	2	2	5
Tubulin beta-4B chain	0	2	2	5
Vesicular acetylcholine transporter	0	1	0	1
Tubulin beta-3 chain	0	2	2	5
Tubulin beta-2A chain	0	2	2	5
Tubulin polymerization-promoting protein	0	0	1	1
Tubulin beta-8 chain	0	2	2	5
Tubulin beta-2B chain	0	2	0	2
Tubulin alpha-3E chain	0	2	2	5
Tubulin alpha-1A chain	0	2	2	5
Similar to alpha-tubulin isoform 1	0	1	0	1
Similar to alpha-tubulin isoform 1	0	1	0	1
CREB-binding protein	1	0	0	1
Tubulin alpha-1C chain	0	2	2	5
Tubulin beta-6 chain	0	2	2	5
Tubulin beta-2B chain	0	2	2	5
Tubulin beta-1 chain	0	2	2	5
ATP-dependent phosphofructokinase	1	0	0	1
15-lipoxygenase, partial	3	0	0	3
Neuraminidase	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Amine oxidase [flavin-containing] A	0	1	0	1
UDP-glucuronosyltransferase 1A1	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Chain A, Cruzipain	2	0	0	2
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	3	0	0	3
Transient receptor potential cation channel subfamily A member 1	0	1	0	1
Transient receptor potential cation channel subfamily M member 8	0	0	1	1
Transient receptor potential cation channel subfamily V member 1	0	1	0	2
Transient receptor potential cation channel subfamily M member 8	0	1	0	1
aldehyde dehydrogenase 1 family, member A1	2	0	0	2
Chain A, Protein farnesyltransferase alpha subunit	0	1	0	1
Chain B, Protein farnesyltransferase beta subunit	0	1	0	1
GTPase HRas	0	1	0	1
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha	0	2	0	2
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha	0	3	0	3
Protein farnesyltransferase subunit beta	0	2	0	2
Protein farnesyltransferase subunit beta	0	3	0	3
Geranylgeranyl transferase type-1 subunit beta	0	2	0	2
Geranylgeranyl transferase type-1 subunit beta	0	1	0	1
Protein farnesyltransferase subunit beta	0	1	0	1
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha	0	1	0	1
Geranylgeranyl transferase type-1 subunit beta	0	2	0	2
Protein farnesyltransferase alpha subunit	0	2	0	2
CAAX farnesyltransferase subunit beta	0	2	0	2
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha	0	0	2	2
Protein farnesyltransferase subunit beta	0	0	2	2
Chain A, Antigen Cd11a (p180)	0	1	0	1
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
caspase 7, apoptosis-related cysteine protease	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	2	0	0	2
PINK1	2	0	0	2
progesterone receptor	3	0	0	3
isocitrate dehydrogenase 1, partial	1	0	0	1
cytochrome P450 2D6	3	0	0	3
Parkin	2	0	0	2
caspase-3	1	0	0	1
thyrotropin-releasing hormone receptor	1	0	0	1
vitamin D3 receptor isoform VDRA	6	0	0	6
potassium voltage-gated channel subfamily H member 2 isoform d	2	0	0	2
urokinase-type plasminogen activator precursor	3	0	0	3
plasminogen precursor	3	0	0	3
bcl-2-related protein A1	0	1	0	1
urokinase plasminogen activator surface receptor precursor	3	0	0	3
Integrin beta-2	0	1	0	1
Intercellular adhesion molecule 1	0	1	0	1
Aldo-keto reductase family 1 member B1	0	4	0	4
Neutrophil elastase	0	1	0	1
Insulin receptor	0	2	0	2
Androgen receptor	0	3	0	3
Integrin alpha-L	0	1	1	2
Substance-K receptor	0	2	0	2
Sodium-dependent noradrenaline transporter	0	4	1	5
Adenosine receptor A1	0	2	0	2
Prostaglandin G/H synthase 2	0	3	0	3
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	2	0	2
Spike glycoprotein	3	0	0	3
Sodium-dependent dopamine transporter	0	4	1	5
Histone deacetylase 1	0	1	0	1
Lanosterol 14-alpha demethylase	0	1	0	1
Rap guanine nucleotide exchange factor 4	1	0	0	1
Histone deacetylase 2	0	1	0	1
Acyl-CoA:cholesterol acyltransferase	0	1	0	1
Histone deacetylase 6	0	1	0	1
Solute carrier organic anion transporter family member 1B1	0	2	0	2
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
histone acetyltransferase KAT2A isoform 1	2	0	0	2
Thioredoxin reductase 1, cytoplasmic	0	1	0	1
GTPase KRas	0	1	0	1
Chain A, JmjC domain-containing histone demethylation protein 3A	2	0	0	2
importin subunit beta-1 isoform 1	1	0	0	1
snurportin-1	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
tumor susceptibility gene 101 protein	1	0	0	1
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
Guanine nucleotide-binding protein G	1	0	0	1
Serine racemase	0	1	0	1
luciferase	0	0	0	1
Fatty acid-binding protein, liver	0	1	0	1
Estrogen receptor	0	2	0	2
Glucocorticoid receptor	0	4	2	11
Progesterone receptor	0	2	0	3
Glucocorticoid receptor	0	1	1	2
Glucocorticoid receptor	0	0	1	1
Glycine receptor subunit alpha-1	0	4	0	4
Corticosteroid-binding globulin	0	1	0	1
Mineralocorticoid receptor	0	2	1	3
Androgen receptor	0	2	0	2
Cytochrome P450 2C9	0	2	0	2
Glutamine synthetase	0	0	1	1
Glycine receptor subunit beta	0	4	0	4
Glycine receptor subunit alpha-2	0	4	0	4
Glycine receptor subunit alpha-3	0	4	0	4
Histamine H1 receptor	0	0	1	1
Nociceptin receptor	0	0	1	1
Cytochrome P450 2J2	0	2	0	2
Estrogen receptor beta	0	2	0	2
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
glp-1 receptor, partial	1	0	0	1
regulator of G-protein signaling 4	2	0	0	2
nonstructural protein 1	1	0	0	1
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
NPC intracellular cholesterol transporter 1 precursor	1	0	0	1
D(1A) dopamine receptor	1	0	0	1
serine/threonine-protein kinase mTOR isoform 1	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
5-hydroxytryptamine receptor 4	0	2	0	2
Rap guanine nucleotide exchange factor 3	1	0	0	1
Muscarinic acetylcholine receptor M2	0	2	0	2
Muscarinic acetylcholine receptor M4	0	2	0	2
Muscarinic acetylcholine receptor M5	0	2	0	2
Alpha-2A adrenergic receptor	0	2	0	2
Cytochrome P450 2D6	0	1	0	1
Muscarinic acetylcholine receptor M1	0	2	0	2
Transcriptional activator protein LuxR	0	1	0	1
Angiotensin-converting enzyme	0	2	0	2
Alpha-2B adrenergic receptor	0	2	0	2
Alpha-2C adrenergic receptor	0	2	0	2
D	0	1	0	1
D(3) dopamine receptor	0	1	0	1
Sodium-dependent dopamine transporter	0	1	0	1
D(1B) dopamine receptor	0	1	0	1
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	2	0	2
D(4) dopamine receptor	0	1	0	1
3-oxo-5-alpha-steroid 4-dehydrogenase 2	0	1	0	1
Sodium-dependent serotonin transporter	0	2	1	3
Sodium-dependent serotonin transporter	0	1	0	1
Melanocortin receptor 5	0	2	0	2
Cytochrome P450 2C19	0	1	0	1
5-hydroxytryptamine receptor 2B	0	2	0	2
D(1A) dopamine receptor	1	0	0	1
D(2) dopamine receptor	0	1	0	1
Envelope glycoprotein	0	0	1	1
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Sigma intracellular receptor 2	0	1	0	1
Nuclear receptor subfamily 3 group C member 3	0	2	0	2
Sigma non-opioid intracellular receptor 1	0	2	0	2
Sigma non-opioid intracellular receptor 1	0	1	0	1
Transporter	0	1	0	1
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
photoreceptor-specific nuclear receptor	0	1	0	1
serine/threonine-protein kinase PLK1	1	0	0	1
transactivating tegument protein VP16 [Human herpesvirus 1]	0	1	0	1
DNA dC->dU-editing enzyme APOBEC-3G isoform 1	1	0	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
3-hydroxy-3-methylglutaryl-coenzyme A reductase	0	1	0	1
TAR DNA-binding protein 43	1	0	0	1
Sigma non-opioid intracellular receptor 1	0	1	0	1
Chain A, Ribosomal protein S6 kinase alpha-1	0	1	0	1
Chain X, Tyrosine-protein kinase Lyn	0	1	0	1
Chain A, Dual specificity protein kinase TTK	0	0	1	1
Chain A, Dual specificity protein kinase TTK	0	0	1	1
Squalene synthase	0	1	0	1
Chain B, Protein farnesyltransferase beta subunit	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Mevalonate Kinase Deficiency

Synonyms(1)

Research Excerpts

Overview

Research

Studies (82)

Protein Targets (363)

Mevalonate Kinase Deficiency

Synonyms(1)

Research Excerpts

Overview

Research

Studies (82)

Drugs Studied (41)

Protein Targets (363)