MCID: ERY029
MIFTS: 43

Erythermalgia, Primary malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Erythermalgia, Primary

About this section

Aliases & Descriptions for Erythermalgia, Primary:

Name: Erythermalgia, Primary 51 12
Small Fiber Neuropathy 51 24 25 26 67
Primary Erythermalgia 53 69 67
Sfnp 24 25
 
Small Nerve Fiber Neuropathy 25
Perythm 69
Sfn 25

Characteristics:

Orphanet epidemiological data:

53
primary erythermalgia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
erythermalgia, primary:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM51 133020
Orphanet53 ORPHA90026
ICD10 via Orphanet30 I73.8

Summaries for Erythermalgia, Primary

About this section
OMIM:51 'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic... (133020) more...

MalaCards based summary: Erythermalgia, Primary, also known as small fiber neuropathy, is related to sodium channelopathy-related small fiber neuropathy and breast cancer, and has symptoms including dysautonomia, xerostomia and blurred vision. An important gene associated with Erythermalgia, Primary is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways are G-Beta Gamma Signaling and Developmental Biology. Affiliated tissues include skin, spinal cord and eye, and related mouse phenotype integument.

Genetics Home Reference:25 Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood.

UniProtKB/Swiss-Prot:69 Primary erythermalgia: Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands.

Related Diseases for Erythermalgia, Primary

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Graphical network of the top 20 diseases related to Erythermalgia, Primary:



Diseases related to erythermalgia, primary

Symptoms for Erythermalgia, Primary

About this section

Symptoms by clinical synopsis from OMIM:

133020

Clinical features from OMIM:

133020

Human phenotypes related to Erythermalgia, Primary:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 dysautonomia63 rare (5%) HP:0002459
2 xerostomia63 HP:0000217
3 blurred vision63 HP:0000622
4 hyperhidrosis63 HP:0000975
5 palpitations63 HP:0001962
6 diarrhea63 HP:0002014
7 constipation63 HP:0002019
8 abnormality of the musculature63 HP:0003011
9 myalgia63 HP:0003326
10 pain63 HP:0012531

UMLS symptoms related to Erythermalgia, Primary:


blurred vision, dryness of eye, jaw pain, myalgia, pruritus, pain, diarrhea, constipation

Drugs & Therapeutics for Erythermalgia, Primary

About this section

Drugs for Erythermalgia, Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Carbamazepineapproved, investigationalPhase 4131298-46-42554
Synonyms:
2-azatricyclo[9.4.0.0^{3,8}]pentadeca-1(11),3(8),4,6,9,12,14-heptaene-2-carboxamide
298-46-4
5-Carbamoyl-5H-dibenz(b,f)azepine
5-Carbamoyl-5H-dibenz[b,F]azepine
5-Carbamoyl-5H-dibenz[b,f]azepine
5-Carbamoyl-5H-dibenzo(b,F)azepine
5-Carbamoyl-5H-dibenzo(b,f)azepine
5-Carbamoyldibenzo(b,f)azepine
5-Carbamyl-5H-dibenzo(b,F)azepine
5-Carbamyl-5H-dibenzo(b,f)azepine
5-Carbamyldibenzo(b,f)azepine
5H-Dibenz(b,F)azepine-5-carboxamide
5H-Dibenz(b,f)azepine-5-carboxamide
5H-Dibenz[b,f]azepine-5- carboxamide
5H-Dibenz[b,f]azepine-5-carboxamide
5H-Dibenzo[b,f]azepine-5-carboxamide
85756-57-6 (di-hydrate)
AC-10560
AC1L1DXT
AC1Q4ZSU
AC1Q4ZSV
AKOS003235644
Amizepin
Amizepine
Apo-Carbamazepine
Atretol
BIDD:GT0479
BIM-0050280.0001
BPBio1_000225
BRD-K71799949-001-06-7
BRN 1246090
BSPBio_000203
BSPBio_001929
Bio-0751
Bipotrol
Biston
C 4024
C06868
C4024_SIAL
C4024_SIGMA
C8981_SIAL
CARBAMAZEPINE, U.S.P.
CAS-298-46-4
CBChromo1_000350
CBZ
CDS1_002710
CHEBI:3387
CHEMBL108
CID2554
CPD001227191
Calepsin
Carbamazepan
Carbamazepen
Carbamazepin
Carbamazepina
Carbamazepina [INN-Spanish]
Carbamazepine (JP15/USP/INN)
Carbamazepine [USAN:INN:BAN:JAN]
Carbamazepinum
Carbamazepinum [INN-Latin]
Carbamazépine
Carbamezepine
Carbatrol
Carbatrol extended-release
Carbazepin
Carbazepine
Carbelan
ChemDiv1_018966
D00252
DB00564
DivK1c_000388
DivK1c_003750
EINECS 206-062-7
EU-0100292
Epitol
Epitol, Equetro, Tegretol, Biston, Calepsin, Carbamazepine
Equetro
Equetro (TN)
Finlepsin
G 32883
G-32883
Geigy 32883
HMS1568K05
 
HMS1920I17
HMS2090M07
HMS2091O19
HMS501D10
HMS640O02
HSDB 3019
I06-0863
IDI1_000388
KBio1_000388
KBio2_000516
KBio2_003084
KBio2_005652
KBio3_001149
KBioGR_000724
KBioSS_000516
Karbamazepin
LS-60362
Lexin
Lopac-C-4024
Lopac0_000292
MLS000069652
MLS001055475
MLS001074172
MolPort-000-710-574
NCGC00015234-01
NCGC00015234-02
NCGC00015234-03
NCGC00015234-07
NCGC00015234-13
NCGC00023877-03
NCGC00023877-04
NCGC00023877-05
NCGC00023877-06
NCGC00023877-07
NCGC00023877-08
NINDS_000388
NSC 169864
NSC169864
Neurotol
Neurotop retard
Novo-Carbamaz
Nu-Carbamazepine
Oprea1_790775
Prestwick0_000052
Prestwick1_000052
Prestwick2_000052
Prestwick3_000052
Prestwick_104
S1693_Selleck
SAM002264603
SMR000058201
SMR001227191
SPBio_000170
SPBio_002124
SPD-417
SPECTRUM1500159
STK177357
Sirtal
Spectrum2_000125
Spectrum3_000325
Spectrum4_000262
Spectrum5_000936
Spectrum_000096
Stazepin
Stazepine
Taro-Carbamazepine
Taro-Carbamazepine Cr
Tegretal
Tegretol
Tegretol (TN)
Tegretol Chewtabs
Tegretol Cr
Tegretol-Xr
Telesmin
Teril
Timonil
Trimonil
UNII-33CM23913M
WLN: T C676 BNJ BVZ
ZINC00004785
benzo[b][1]benzazepine-11-carboxamide
carbamazepine
carbamazepine (Tegretol)
nchem.859-comp7
2Psychotropic DrugsPhase 4, Phase 26279
3Tranquilizing AgentsPhase 4, Phase 24164
4AnalgesicsPhase 4, Phase 211287
5Central Nervous System DepressantsPhase 4, Phase 212806
6Peripheral Nervous System AgentsPhase 4, Phase 222776
7AnticonvulsantsPhase 4, Phase 3, Phase 22620
8Antimanic AgentsPhase 4790
9Analgesics, Non-NarcoticPhase 46260
10Cytochrome P-450 CYP3A InducersPhase 41101
11
LacosamideapprovedPhase 378860352-01-8, 175481-36-4219078
Synonyms:
( )-(2R)-2-(acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-(Acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-acetamido-N-benzyl-3-methoxypropanamide
175481-36-4
AC1L560M
ADD 234037
ADD-234037
AKOS005146274
AZD7762
CHEBI:188739
CHEMBL58323
CID219078
D07299
 
Erlosamide
Erlosamide [INN]
Erlosamide, Vimpat, Lacosamide
Harkoseride
I01-7424
LS-185541
Lacosamide
Lacosamide (USAN/INN)
Lacosamide [USAN]
S1253_Selleck
SPM 927
SPM-927
SPM-929
Vimpat
ZINC00007673
12
Pregabalinapproved, illicit, investigationalPhase 2355148553-50-85486971
Synonyms:
(3S)-3-(aminomethyl)-5-methylhexanoic acid
(R-)-3-isobutyl GABA
(S)-3-(Aminomethyl)-5-methylhexanoic acid
(S)-3-Isobutyl gaba
(S+)-3-isobutyl GABA
121GE001
148553-50-8
3-Isobutyl gaba
3-isobutyl GABA
AC-1158
AC1NUP03
AKOS005145504
C080245
C8H17NO2
CHEBI:236161
CHEMBL1059
CI 1008
CI-1008
CID5486971
 
D02716
DB00230
FT-0080911
HSDB 7530
LS-75191
Lyrica
Lyrica (TN)
MolPort-000-861-733
PD 144723
PD-144723
Pregabalin
Pregabalin (JAN/USAN/INN)
Pregabalin [USAN]
Pregablin
S-(+)-3-isobutylgaba
S1731_Selleck
SBB062901
TL8001062
TOS-BB-0910
UNII-55JG375S6M
13Pharmaceutical SolutionsPhase 27793
14Anti-Anxiety AgentsPhase 21816
15Calcium, DietaryPhase 25525
16Rho(D) Immune GlobulinPhase 2317
17calcium channel blockersPhase 21940
18Immunoglobulins, IntravenousPhase 2324
19AntibodiesPhase 26045
20gamma-GlobulinsPhase 2317
21ImmunoglobulinsPhase 26045
22Excitatory Amino AcidsPhase 21297
23Neurotransmitter AgentsPhase 217734
24Excitatory Amino Acid AntagonistsPhase 21282
25Glutamic AcidNutraceuticalPhase 2214
26
Acetylcholineapproved77651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
27
Ethanolapproved204364-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
28
Lidocaineapproved, vet_approved1226137-58-63676
Synonyms:
.alpha.-(Diethylamino)-2,6-acetoxylidide
.alpha.-Diethylamino-2,6-dimethylacetanilide
.alpha.-Diethylaminoaceto-2,6-xylidide
.omega.-Diethylamino-2,6-dimethylacetanilide
137-58-6
2-(Diethylamino)-2',6'-acetoxylidide
2-(Diethylamino)-N-(2,6-dimethylphenyl)acetamide
2-Diethylamino-N-(2,6-dimethyl-phenyl)-acetamide
2-Diethylamino-N-(2,6-dimethylphenyl)acetamide
4-12-00-02538 (Beilstein Handbook Reference)
6108-05-0 (MONOHYDROCHLORIDE MONOHYDRATE))
6108-05-0 (mono-hydrochloride, mono-hydrate)
73-78-9 (mono-hydrochloride)
AB00053581
AC-10282
AC1L1GGQ
AC1Q2Z7J
AKOS001026768
ARONIS23855
After Burn Double Strength Gel
After Burn Double Strength Spray
After Burn Gel
After Burn Spray
Alphacaine
Anestacon
Anestacon Jelly
BIDD:GT0342
BPBio1_000197
BRD-K52662033-001-02-6
BRD-K52662033-003-05-5
BRN 2215784
BSPBio_000179
BSPBio_001359
BSPBio_003004
Bio-0767
Bio1_000379
Bio1_000868
Bio1_001357
Bio2_000079
Bio2_000559
C07073
C14H22N2O
CAS-73-78-9
CDS1_000283
CHEBI:6456
CHEMBL79
CID3676
CPD000058189
Cappicaine
Cito optadren
Cuivasil
D00358
DB00281
Dalcaine
Dentipatch
Dentipatch (TN)
DermaFlex
Diethylaminoaceto-2,6-xylidide
Dilocaine
DivK1c_000174
DivK1c_001323
Duncaine
EINECS 205-302-8
ELA-Max
EMBOLEX
Emla
Emla Cream
Esracaine
FT-0082378
Gravocain
HMS1791D21
HMS1989D21
HMS2051C21
HMS2089E15
HMS548M19
HSDB 3350
I01-2704
IDI1_000174
IDI1_033829
Isicaina
Isicaine
Jetocaine
KBio1_000174
KBio2_000079
KBio2_001598
KBio2_002647
KBio2_004166
KBio2_005215
KBio2_006734
KBio3_000157
KBio3_000158
KBio3_002224
KBioGR_000079
KBioGR_000599
KBioSS_000079
KBioSS_001598
L-Caine
L0156
L1026_SIGMA
L7757_SIGMA
LIDOCAINE (73-58-6 (MONOHYDROCHLORIDE)
LIDOPEN
LQZ
 
LS-805
Lanabiotic
Leostesin
Lida-Mantle
Lidocaina
Lidocaina [INN-Spanish]
Lidocaine (JP15/USP/INN)
Lidocaine (VAN)
Lidocaine Carbonate
Lidocaine Hydrocarbonate
Lidocaine Monohydrochloride
Lidocaine [USAN:INN:JAN]
Lidocainum
Lidocainum [INN-Latin]
Lidocaton
Lidoderm
Lidoject-1
Lidoject-2
Lignocaine
Lignocainum
Lingocaine
Lopac-L-5647
Lopac0_000669
MLS000069724
MLS000758263
MLS001074177
Maricaine
Maybridge1_002571
MolPort-001-783-478
N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide
N-(2,6-dimethylphenyl)-N~2~,N~2~-diethylglycinamide
NCGC00015611-01
NCGC00015611-02
NCGC00015611-03
NCGC00015611-04
NCGC00015611-14
NCGC00022176-05
NCGC00022176-06
NCGC00022176-07
NCGC00022176-08
NCGC00022176-09
NINDS_000174
NSC 40030
NSC40030
Norwood Sunburn Spray
Octocaine
Octocaine-100
Octocaine-50
Prestwick0_000050
Prestwick1_000050
Prestwick2_000050
Prestwick3_000050
Remicaine
Rocephin Kit
Rucaina
S1357_Selleck
SAM001247018
SMR000058189
SPBio_001525
SPBio_002100
STK552033
Solarcaine
Solarcaine aloe extra burn relief cream
Solcain
Spectrum2_001343
Spectrum3_001392
Spectrum4_000070
Spectrum5_001549
Spectrum_001118
UNII-98PI200987
WLN: 2N2 & 1VMR B1 F1
Xilina
Xilocaina
Xilocaina [Italian]
Xllina
Xycaine
Xylestesin
Xylesthesin
Xylocain
Xylocaine
Xylocaine (TN)
Xylocaine 5% Spinal
Xylocaine CO2
Xylocaine Dental Ointment
Xylocaine Endotracheal
Xylocaine Test Dose
Xylocaine Viscous
Xylocaine-MPF
Xylocaine-MPF with Glucose
Xylocaine-Mpf
Xylocaine-Mpf with Glucose
Xylocard
Xylocitin
Xyloneural (free base)
Xylotox
Zilactin-L
Zingo
alfa-Dietilamino-2,6-dimetilacetanilide
alfa-Dietilamino-2,6-dimetilacetanilide [Italian]
alpha-Diethylamino-2,6-dimethylacetanilide
alpha-diethylamino-2,6-dimethylacetanilide
lidocaine
nchembio.65-comp16
α-diethylamino-2,6-dimethylacetanilide
29
Prilocaineapproved79721-50-64906
Synonyms:
2-(Propylamino)-O-propionotoluidide
2-(Propylamino)-o-propionotoluidide
2-Methyl-.alpha.-propylaminopropionanilide
2-Methyl-alpha-propylaminopropionanilide
721-50-6
AB00053665
AC-2100
AC1L1J7W
Ambap1786-81-8
Astra 1512
Astra 1515
BPBio1_000173
BRD-A53952395-003-05-3
BRN 2108498
BSPBio_000157
BSPBio_002604
C07531
C13H20N2O
CHEBI:8404
CHEMBL1194
CID4906
Citanest
Citanest Plain
D00553
DB00750
DivK1c_000846
EINECS 211-957-0
HSDB 3386
I01-1860
IDI1_000846
KBio1_000846
KBio2_002129
KBio2_004697
KBio2_007265
KBio3_001824
KBioGR_001883
KBioSS_002129
L 67
LS-2304
Lopac0_001005
MolPort-005-935-583
 
N-(2-Methylphenyl)-2-(propylamino)propanamide
N-(2-methylphenyl)-N(2)-propylalaninamide
N-(2-methylphenyl)-N2-propylalaninamide
N-[2-Methylphenyl]-2-[propylamino]propanamide
NCGC00015860-03
NCGC00162312-01
NINDS_000846
NSC 40027
NSC40027
O-Methyl-2-propylaminopropionanilide
O-Methyl-alpha-propylaminopropionanilide
Prestwick0_000199
Prestwick1_000199
Prestwick2_000199
Prestwick3_000199
Prilocain
Prilocaina
Prilocaina [INN-Spanish]
Prilocaine (USP/INN)
Prilocaine [USAN]
Prilocaine base
Prilocainum
Prilocainum [INN-Latin]
Prilocaïne
Propanamide, N-(2-methylphenyl)-2-(propylamino)- (9CI)
Propitocaine
Propitocaine (JAN)
S1619_Selleck
SPBio_001398
SPBio_002078
Spectrum2_001549
Spectrum3_001052
Spectrum4_001192
Spectrum5_001175
Spectrum_001649
UNII-046O35D44R
alpha-N-Propylamino-2-methylpropionanilide
alpha-n-Propylamino-2-methylpropionanilide
o-Methyl-2-propylaminopropionanilide
o-Methyl-alpha-propylaminopropionanilide
prilocaine
prilocaine base
30
Capsaicinapproved166404-86-41548943
Synonyms:
(6E)-N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
(6E)-N-{[4-hydroxy-3-(methyloxy)phenyl]methyl}-8-methylnon-6-enamide
(E)-8-Methyl-N-vanillyl-6-nonenamide
(E)-8-Methyl-N-vanillyl-6-nonenamide(8cl)
(E)-Capsaicin
(E)-N-((4-Hydroxy-3-methoxyphenyl)-methyl)-8-methyl-6-nonenamide
(E)-N-[(4-hydroxy-3-methoxyphenyl)methyl]-8-methylnon-6-enamide
(E)8-methyl-N-vanillyl-6-Nonenamide
12084_FLUKA
21748_FLUKA
21748_SIGMA
21750_FLUKA
21750_SIGMA
360376_ALDRICH
360376_SIGMA
404-86-4
6-Nonenamide, (E)-N-((4-hydroxy-3-methoxy-phenyl)methyl)-8-methyl
6-Nonenamide, 8-methyl-N-vanillyl-, (E)- (8CI)
8 Methyl N Vanillyl 6 Nonenamide
8-Methyl-N-Vanillyl-6-Nonenamide
8-Methyl-N-vanillyl-trans-6-nonenamide
912457-62-6
AC1LU7K3
AC1Q46B3
Alacan Brand of Capsaicin
Antiphlogistine Rub A-535 Capsaicin
Axsain
BPBio1_001053
BRD-K37056290-001-01-1
BRD-K50590187-001-06-6
BRN 2816484
BSPBio_000957
BSPBio_001548
BSPBio_002917
Bio-0615
C-1700
C06866
C18H27NO3
CAPSAICIN (2444-46-4 NONIVAMIDE (SYNTHETIC CAPSAICIN))
CAPSAICINE
CCRIS 1588
CHEBI:3374
CHEMBL294199
CID1548943
Capsaicin
Capsaicin (JAN/USP)
Capsaicin (Natural)
Capsaicin (in oleoresin of capsicum)
Capsaicin (jan/usp)
Capsaicin Patch
Capsaicin [USAN]
Capsaicin [in oleoresin of capsicum]
Capsaicin [usan]
Capsicum Farmaya
Capsidol
Capsin
Capzasin
Carter Horner Brand of Capsaicin
Caswell No. 158
Centrum Brand of Capsaicin
D002211
D00250
E-CAPSAICIN
E-Capsaicin
EINECS 206-969-8
EPA Pesticide Chemical Code 070701
Elan Brand of Capsaicin
FEMA No. 3404
FT-0082538
Flemming Brand of Capsaicin
Gelcen
HMS1361N10
HMS1570P19
HMS1791N10
HMS1921H11
HMS1989N10
 
HMS2089N11
HMS2092D21
HMS501B16
HSDB 954
I01-2469
IDI1_000354
IDI1_034018
Isodecenoate
Isodecenoic acid
Isodecenoic acid vanillylamide
Katrum
LS-2138
Link Brand of Capsaicin
M1149
M2028_SIGMA
MEGxp0_001448
MLS002154049
MR3H3
Medicis Brand of Capsaicin
MolPort-001-742-263
N-(4-Hydroxy-3-methoxybenzyl)-8-methylnon-trans-6-enamide
N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
N-[(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
N-[(4-hydroxy-3-methoxy-phenyl)methyl]nonanamide
NCGC00090853-01
NCGC00090853-02
NCGC00090853-03
NCGC00090853-04
NCGC00090853-06
NCGC00090853-07
NCGC00090853-08
NCGC00090853-09
NCI-C56564
NGX 4010
NGX-1998
NGX-3781
NGX-4010
NGX-7325
NGX4010
NSC 56353
NSC56353
Prestwick2_000879
Prestwick3_000879
Prestwick_204
Qutenza
S1990_Selleck
SDCCGMLS-0066678.P001
SMP2_000337
SMR000718774
SPECTRUM1501128
Smaller Brand of Capsaicin
Spectrum5_000538
Styptysat
TL8002946
TQ-1018
Thompson Brand of Capsaicin
Transacin
UNII-S07O44R1ZM
UPCMLD-DP092
UPCMLD-DP092:001
UPCMLD-DP092:002
Vinas Brand of Capsaicin
ZINC01530575
ZOSTRIX (TN)
Zacin
Zostrix
Zostrix (TN)
Zostrix HP
[(E)-N-(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
depletes Substance P
epsilon-Capsaicin
n-(4-hydroxy-3-methoxybenzyl)-8-methyl-6-nonenamide
nchembio.146-comp1
nchembio862-comp2
neurotoxic
trans-8-Methyl-N-vanillyl-6-nonenamide
trans-Capsaicin
31EMLA67
32Sodium Channel Blockers1515
33Diuretics, Potassium Sparing1827
34Anesthetics9001
35Anesthetics, Local3272
36Anti-Arrhythmia Agents2969
37Antipruritics864
38Dermatologic Agents5674

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 MutationsEnrolling by invitationNCT02214615Phase 4
2Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber NeuropathyActive, not recruitingNCT01911975Phase 3
3Phase 2a, Exploratory Study to Evaluate the Safety, Efficacy, Tolerability and Pharmacokinetics of XPF-002 in Patients With Primary/Inherited ErythromelalgiaCompletedNCT01486446Phase 1, Phase 2
4Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM)CompletedNCT01090622Phase 1, Phase 2
5A Phase 2a Study of BIIB074 in the Treatment of ErythromelalgiaCompletedNCT02917187Phase 2
6Evaluation Of The Efficacy And Safety Of Single Doses Of PF-05089771 In Patients With Primary (Inherited) ErythromelalgiaCompletedNCT01769274Phase 2
7Intravenous Immunoglobulin Therapy for Small Fiber NeuropathyRecruitingNCT02637700Phase 2
8Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber NeuropathyRecruitingNCT02607254Phase 2
9Fycompa in Subjects With Small Fiber Neuropathy (SFN)Active, not recruitingNCT02511873Phase 2
10Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative StudyCompletedNCT01160887
11Nutritional Supplementation With Agmatine Sulfate During Small Fiber NeuropathyRecruitingNCT01524666
12Assessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanRecruitingNCT02985710
13Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot StudyEnrolling by invitationNCT02537951
14Spinal Cord Stimulation in Small Fibre NeuropathyNot yet recruitingNCT02905396
15Evaluation of Pregabalin in Idiopathic Small Fiber NeuropathySuspendedNCT00787462

Search NIH Clinical Center for Erythermalgia, Primary

Genetic Tests for Erythermalgia, Primary

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Genetic tests related to Erythermalgia, Primary:

id Genetic test Affiliating Genes
1 Small Fiber Neuropathy26 24 SCN9A

Anatomical Context for Erythermalgia, Primary

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MalaCards organs/tissues related to Erythermalgia, Primary:

35
Skin, Spinal cord, Eye

Animal Models for Erythermalgia, Primary or affiliated genes

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MGI Mouse Phenotypes related to Erythermalgia, Primary:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5SCN10A, SCN11A, SCN9A

Publications for Erythermalgia, Primary

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Variations for Erythermalgia, Primary

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UniProtKB/Swiss-Prot genetic disease variations for Erythermalgia, Primary:

69 (show all 11)
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Ile859ThrVAR_019947rs80356474
2SCN9Ap.Leu869HisVAR_019948rs80356475
3SCN9Ap.Ser241ThrVAR_032014rs80356470
4SCN9Ap.Phe1460ValVAR_032019rs80356478
5SCN9Ap.Gln10ArgVAR_064595rs267607030
6SCN9Ap.Phe216SerVAR_064598rs80356469
7SCN9Ap.Asn395LysVAR_064600rs80356471
8SCN9Ap.Glu406LysVAR_064601
9SCN9Ap.Leu869PheVAR_064609rs80356476
10SCN9Ap.Ala1643GluVAR_072280
11SCN9Ap.Ala1643ThrVAR_072281

Clinvar genetic disease variations for Erythermalgia, Primary:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SCN9ANM_002977.3(SCN9A): c.554G> A (p.Arg185His)SNVPathogenicrs73969684GRCh38Chr 2, 166305834: 166305834
2SCN9ANM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys)SNVPathogenicrs80356471GRCh37Chr 2, 167145076: 167145076
3SCN9ANM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg)SNVPathogenicrs80356473GRCh37Chr 2, 167134666: 167134666
4SCN9ANM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro)SNVPathogenicrs80356477GRCh37Chr 2, 167133747: 167133747
5SCN9ANM_002977.3(SCN9A): c.406A> G (p.Ile136Val)SNVPathogenicrs80356468GRCh37Chr 2, 167163081: 167163081
6SCN9ANM_002977.3(SCN9A): c.2573T> A (p.Leu858His)SNVPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
7SCN9ANM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)SNVPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
8SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)SNVPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
9SCN9ANM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)SNVPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
10SCN9ANM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)SNVPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
11SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)SNVPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
12SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)SNVPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238

Expression for genes affiliated with Erythermalgia, Primary

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Search GEO for disease gene expression data for Erythermalgia, Primary.

Pathways for genes affiliated with Erythermalgia, Primary

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Pathways related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5SCN10A, SCN11A, SCN9A
2
Show member pathways
8.5SCN10A, SCN11A, SCN9A
3
Show member pathways
8.5SCN10A, SCN11A, SCN9A
4
Show member pathways
8.5SCN10A, SCN11A, SCN9A
5
Show member pathways
8.5SCN10A, SCN11A, SCN9A
6
Show member pathways
8.5SCN10A, SCN11A, SCN9A
78.5SCN10A, SCN11A, SCN9A
88.5SCN10A, SCN11A, SCN9A

GO Terms for genes affiliated with Erythermalgia, Primary

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Cellular components related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:00015188.5SCN10A, SCN11A, SCN9A

Biological processes related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sensory perception of painGO:00192339.0SCN10A, SCN9A
2membrane depolarization during action potentialGO:00860108.9SCN10A, SCN11A, SCN9A
3regulation of postsynaptic membrane potentialGO:00600788.9SCN10A, SCN11A, SCN9A
4sodium ion transmembrane transportGO:00357258.7SCN10A, SCN11A, SCN9A
5sodium ion transportGO:00068148.5SCN10A, SCN11A, SCN9A
6neuronal action potentialGO:00192288.5SCN10A, SCN11A, SCN9A
7regulation of ion transmembrane transportGO:00347658.4SCN10A, SCN11A, SCN9A

Molecular functions related to Erythermalgia, Primary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:00052488.5SCN10A, SCN11A, SCN9A

Sources for Erythermalgia, Primary

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet