Page last updated: 2024-09-27

Erythro et Keratodermia Variabilis

An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.

Synonyms(9)

Synonym
Erythrokeratodermia Variabilis
Erythrokeratodermia Figurata, Congenital Familial, in Plaques
Erythro et Keratodermia Variabilis
Erythrokeratodermia Figurata Variabilis
Greither Disease
Transgrediens et Progrediens Palmoplantar Keratoderma
Erythrokeratodermia, Progressive Symmetric
Erythrokeratodermia Variabilis with Erythema Gyratum Repens
Mendes De Costa Syndrome

Research

Studies (19)

TimeframeStudies, This Condition (%)All Conditions %
pre-19901 (5.26)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's14 (73.68)28.8240
2020's4 (21.05)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low20
urea0low10
valine0low10
isoxazoles0low10
thorium0low10
gliclazide0low10
methotrexate0low10
retinol0low30
thapsigargin0low10
etretinate0low20
acitretin0low50
brefeldin a0low10
acyclovir0low10
valacyclovir0low10

Protein Targets (321)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Luciferase2002
USP1 protein, partial6006
TDP1 protein100010
Microtubule-associated protein tau4004
AR protein9009
aldehyde dehydrogenase 1 family, member A16006
glucocorticoid receptor [Homo sapiens]6006
estrogen nuclear receptor alpha8008
peroxisome proliferator activated receptor gamma6006
euchromatic histone-lysine N-methyltransferase 27007
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a5005
vitamin D3 receptor isoform VDRA5005
thyroid hormone receptor beta isoform 27007
flap endonuclease 12002
serine/threonine-protein kinase PLK12002
eyes absent homolog 2 isoform a1001
DNA polymerase eta isoform 13003
geminin7007
peripheral myelin protein 224004
survival motor neuron protein isoform d2002
histone acetyltransferase KAT2A isoform 13003
ATP-binding cassette sub-family C member 30606
Multidrug resistance-associated protein 40607
Bile salt export pump0303
Bile salt export pump0606
Rap guanine nucleotide exchange factor 32002
Cellular tumor antigen p537007
Rap guanine nucleotide exchange factor 42002
Chain E, Purine nucleoside phosphorylase0101
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Ferritin light chain3003
Thymidine kinase 0101
thioredoxin reductase6006
phosphopantetheinyl transferase3003
GLS protein2002
Smad32002
thyroid stimulating hormone receptor2002
EWS/FLI fusion protein3003
arylsulfatase A2002
activating transcription factor 64004
Histone H2A.x4004
Bloom syndrome protein isoform 13003
hemoglobin subunit beta1001
atrial natriuretic peptide receptor 1 precursor2002
ubiquitin carboxyl-terminal hydrolase 2 isoform a2002
lamin isoform A-delta103003
Solute carrier family 22 member 1 0001
Solute carrier family 22 member 60001
Purine nucleoside phosphorylase0101
Thymidine kinase, cytosolic0001
POU domain, class 2, transcription factor 20001
Cytochrome P450 2C9 0202
Cytochrome P450 2J20101
Disintegrin and metalloproteinase domain-containing protein 172002
Purine nucleoside phosphorylase0011
Solute carrier family 22 member 60002
Thymidine kinase 0101
Solute carrier family 22 member 80003
Canalicular multispecific organic anion transporter 10607
Thymidine kinase0101
PAX80001
ATAD5 protein, partial4004
thioredoxin glutathione reductase3003
67.9K protein4004
IDH12002
NPC intracellular cholesterol transporter 1 precursor2002
major prion protein preproprotein Prp precursor0101
nuclear receptor subfamily 0 group B member 10101
chromobox protein homolog 15005
thyroid hormone receptor beta isoform a2002
nuclear factor erythroid 2-related factor 2 isoform 24004
ras-related protein Rab-9A2002
steroidogenic factor 10101
urokinase-type plasminogen activator precursor2002
plasminogen precursor2002
urokinase plasminogen activator surface receptor precursor2002
glp-1 receptor, partial1001
hypoxia-inducible factor 1 alpha subunit3003
RAR-related orphan receptor gamma5005
SMAD family member 23003
SMAD family member 33003
GLI family zinc finger 36006
caspase 7, apoptosis-related cysteine protease2002
nuclear receptor subfamily 1, group I, member 36006
progesterone receptor4004
retinoic acid nuclear receptor alpha variant 16006
retinoid X nuclear receptor alpha6006
estrogen-related nuclear receptor alpha8008
pregnane X nuclear receptor6006
peroxisome proliferator-activated receptor delta6006
vitamin D (1,25- dihydroxyvitamin D3) receptor6006
caspase-32002
LMP1 [Human herpesvirus 4]0001
thyroid stimulating hormone receptor3003
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
v-jun sarcoma virus 17 oncogene homolog (avian)3003
heat shock protein beta-14004
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]0202
nuclear factor erythroid 2-related factor 2 isoform 17007
DNA polymerase iota isoform a (long)5005
transactivating tegument protein VP16 [Human herpesvirus 1]0202
nuclear receptor coactivator 3 isoform a0202
Voltage-dependent calcium channel gamma-2 subunit4004
Prothrombin0001
Regulatory protein E20011
ATP-dependent translocase ABCB10101
ATP-dependent translocase ABCB10203
Cytochrome P450 3A40101
DNA topoisomerase 10102
DNA topoisomerase 2-alpha0117
Polyunsaturated fatty acid lipoxygenase ALOX150101
DNA topoisomerase 20001
Glutamate receptor 24004
ATP-dependent translocase ABCB10101
UDP-glucuronosyltransferase 1A1 0001
Serum paraoxonase/arylesterase 10101
Glutamate receptor ionotropic, NMDA 1 0214
Caspase-30101
Glutamate receptor ionotropic, NMDA 2A 0214
Glutamate receptor ionotropic, NMDA 2B0214
Glutamate receptor ionotropic, NMDA 2C0214
DNA topoisomerase 2-alpha 0001
DNA topoisomerase 2-beta0118
Glutamate receptor ionotropic, NMDA 2D0214
Tubulin beta-2B chain0101
Integrase 0101
Similar to alpha-tubulin isoform 1 0101
Similar to alpha-tubulin isoform 1 0101
Glutamate receptor ionotropic, NMDA 3B0214
ATPase family AAA domain-containing protein 52002
Ataxin-23003
Solute carrier organic anion transporter family member 1B30203
Glutamate receptor ionotropic, NMDA 3A0214
estrogen receptor 2 (ER beta)5005
cytochrome P450 family 3 subfamily A polypeptide 42002
farnesoid X nuclear receptor3003
G1001
cytochrome P450 2D61001
aryl hydrocarbon receptor1001
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 1001
Inositol hexakisphosphate kinase 11001
cytochrome P450 2C9, partial1001
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Large neutral amino acids transporter small subunit 10202
Proton-coupled amino acid transporter 10101
Serine racemase0101
Olfactory receptor 51E20123
Sodium- and chloride-dependent glycine transporter 20101
Chain A, Cruzipain2002
regulator of G-protein signaling 41001
Parkin2002
Caspase-71001
peripheral myelin protein 22 isoform 11001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor2002
potassium voltage-gated channel subfamily H member 2 isoform d2002
caspase-31001
serine/threonine-protein kinase mTOR isoform 12002
peptidyl-prolyl cis-trans isomerase NIMA-interacting 13003
Ornithine decarboxylase0001
Adenosine receptor A30202
Retinoic acid receptor alpha0101
Alpha-1B adrenergic receptor0202
Alpha-2B adrenergic receptor0202
Retinoic acid receptor gamma0101
Retinoic acid receptor beta0101
Cellular retinoic acid-binding protein 20011
Mitogen-activated protein kinase 10101
Retinoic acid receptor RXR-alpha0101
Retinoic acid receptor RXR-beta0101
Retinoic acid receptor RXR-gamma0101
Cellular retinoic acid-binding protein 10101
5-hydroxytryptamine receptor 2B0202
Alpha-1A adrenergic receptor0202
Cellular retinoic acid-binding protein 10011
Mitogen-activated protein kinase 140101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, TYROSYL-DNA PHOSPHODIESTERASE3003
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, 2-oxoglutarate Oxygenase1001
acid sphingomyelinase1001
dopamine D1 receptor1001
ClpP1001
15-lipoxygenase, partial2002
Thymidylate synthase 0101
alpha-galactosidase1001
Thymidylate synthase 0101
cellular tumor antigen p53 isoform a1001
polyunsaturated fatty acid lipoxygenase ALOX121001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
transcriptional regulator ERG isoform 31001
importin subunit beta-1 isoform 11001
DNA polymerase beta1001
snurportin-11001
DNA polymerase kappa isoform 12002
M-phase phosphoprotein 81001
muscleblind-like protein 1 isoform 11001
caspase-1 isoform alpha precursor1001
Toll-like receptor 40101
Fatty-acid amide hydrolase 10101
ATP-binding cassette sub-family C member 30102
Dihydrofolate reductase0203
Dihydrofolate reductase0203
Dihydrofolate reductase 0101
Dihydrofolate reductase0101
Dihydrofolate reductase0101
Dihydrofolate reductase0203
Thymidylate synthase0101
Tyrosine-protein kinase ABL10011
Carbonic anhydrase 20011
Thymidylate synthase0202
Integrin beta-31001
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Thymidylate synthase0202
Integrin alpha-IIb1001
5-hydroxytryptamine receptor 2C0102
High mobility group protein B10011
Dihydrofolate reductase0101
Thymidylate synthase0101
Dihydrofolate reductase0224
Glucose-6-phosphate 1-dehydrogenase0101
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Folate receptor beta0101
5-hydroxytryptamine receptor 2A0101
Cytochrome P450 11B1, mitochondrial 0101
Folate receptor alpha0101
Dihydrofolate reductase0202
Histidine decarboxylase0101
Trifunctional purine biosynthetic protein adenosine-30101
Cyclin-dependent kinase 20011
Bifunctional purine biosynthesis protein ATIC0202
Multidrug resistance-associated protein 1 0001
Delta-type opioid receptor0101
Mu-type opioid receptor0101
Kappa-type opioid receptor0101
Reduced folate transporter0202
Folylpolyglutamate synthase, mitochondrial0103
6-phosphogluconate dehydrogenase, decarboxylating0101
Caspase-71001
Spike glycoprotein1001
Solute carrier organic anion transporter family member 1A30001
Dihydrofolate reductase0101
Pteridine reductase 10101
Folylpolyglutamate synthase, mitochondrial0103
Bifunctional dihydrofolate reductase-thymidylate synthase0101
TAR DNA-binding protein 431001
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Canalicular multispecific organic anion transporter 10102
Trifunctional purine biosynthetic protein adenosine-30101
Solute carrier family 22 member 200101
Dihydrofolate reductase 0101
Solute carrier family 22 member 60101
Dihydrofolate reductase0101
ATP-binding cassette sub-family C member 110001
Proton-coupled folate transporter0101
Multidrug resistance associated protein0102
Solute carrier family 22 member 110001
Protein-arginine deiminase type-40101
Broad substrate specificity ATP-binding cassette transporter ABCG20001
ATP-dependent phosphofructokinase2002
pregnane X receptor2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
nuclear receptor ROR-gamma isoform 12002
Glucocorticoid receptor0213
Glycine receptor subunit alpha-10202
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Nuclear receptor ROR-gamma2002
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR0011
interleukin 81001
acetylcholinesterase1001
mitogen-activated protein kinase 11001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
Retinol-binding protein 40011
Beta-lactoglobulin0011
Amyloid-beta precursor protein0101
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Alpha-synuclein0101
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
GABA theta subunit1001
Gamma-aminobutyric acid receptor subunit epsilon1001
Fumarate hydratase1001
PPM1D protein1001
DNA polymerase III, partial1001
polyprotein1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
D(1A) dopamine receptor1001
atrial natriuretic peptide receptor 2 precursor1001
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 0101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 10112
D(1A) dopamine receptor1001
lethal factor (plasmid)1001
Urease subunit alpha0101
Urease subunit beta0101
Chain A, Beta-lactamase1001
Solute carrier family 15 member 10203
Solute carrier family 15 member 10101
Solute carrier family 15 member 20101
Valacyclovir hydrolase0001
Chain A, Arginase 10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]
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