MCID: ERY029
MIFTS: 33

Erythermalgia, Primary malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Erythermalgia, Primary

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Aliases & Descriptions for Erythermalgia, Primary:

Name: Erythermalgia, Primary 49 11
Small Fiber Neuropathy 49 22 23 24 65
Sfnp 22 23
Small Nerve Fiber Neuropathy 23
 
Primary Erythermalgia 67
Perythm 67
Sfn 23


Classifications:



External Ids:

OMIM49 133020

Summaries for Erythermalgia, Primary

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OMIM:49 '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 neuropathy and peripheral neuropathy, and has symptoms including dysautonomia, autosomal dominant inheritance and xerostomia. An important gene associated with Erythermalgia, Primary is SCN9A (Sodium Channel, Voltage Gated, Type IX Alpha Subunit). Affiliated tissues include skin.

Genetics Home Reference:23 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:67 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

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Symptoms by clinical synopsis from OMIM:

133020

Clinical features from OMIM:

133020

HPO human phenotypes related to Erythermalgia, Primary:

(show all 12)
id Description Frequency HPO Source Accession
1 dysautonomia rare (5%) HP:0002459
2 autosomal dominant inheritance HP:0000006
3 xerostomia HP:0000217
4 blurred vision HP:0000622
5 hyperhidrosis HP:0000975
6 palpitations HP:0001962
7 diarrhea HP:0002014
8 constipation HP:0002019
9 abnormality of the musculature HP:0003011
10 myalgia HP:0003326
11 juvenile onset HP:0003621
12 pain HP:0012531

Drugs & Therapeutics for Erythermalgia, Primary

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Carbamazepineapproved, investigationalPhase 4115298-46-42554
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
Carbamazepine (JP15/USP/INN)
Carbamazepine ER
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
Mazepine
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
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
2
LacosamideapprovedPhase 379860352-01-8, 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
3
Pregabalinapproved, illicit, investigationalPhase 2327148553-50-85486971
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
4Calcium, DietaryPhase 23529
5Glutamic AcidNutraceuticalPhase 2187
6
Prilocaineapproved62721-50-64906
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
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 Hydrochloride
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
7
Lidocaineapproved991137-58-63676
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
Afterburn
Akten
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
Bikini Zone Medicated
Bikini Zone Medicated Creme
Bio-0767
Bio-scriptives Lidum
Bio-scriptives Lidum Hemorroidal (anorectal)
Bio-scriptives Lidum Topical Analgesic
Bio1_000379
Bio1_000868
Bio1_001357
Bio2_000079
Bio2_000559
Burn Relief Leader
C07073
C14H22N2O
CAS-73-78-9
CDS1_000283
CHEBI:6456
CHEMBL79
CID3676
CPD000058189
Cappicaine
Cito optadren
Comfortcaine
Cuivasil
Curacaine Transdermal Corporation
D00358
DB00281
Dalcaine
Dentipatch
Dentipatch (TN)
Derma Numb
DermaFlex
Desert Harvest Releveum
Diethylaminoaceto-2,6-xylidide
Dilocaine
DivK1c_000174
DivK1c_001323
Dr. Numb
Dr. Richs Numbing
Duncaine
EINECS 205-302-8
ELA-Max
EMBOLEX
Emla
Emla Cream
Esracaine
FT-0082378
Gigi Anesthetic Numbing
Gravocain
H-releve Hemorrhoidal
HMS1791D21
HMS1989D21
HMS2051C21
HMS2089E15
HMS548M19
HSDB 3350
Hawaiian Tropic
Hush Anesthetic
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
 
Laryng-o-jet
Leostesin
Lida-Mantle
Lidall
Lidocaina
Lidocaina [INN-Spanish]
Lidocaine
Lidocaine (JP15/USP/INN)
Lidocaine (VAN)
Lidocaine 4% Cream
Lidocaine Carbonate
Lidocaine Hydrocarbonate
Lidocaine Hydrochloride
Lidocaine Monohydrochloride
Lidocaine [USAN:INN:JAN]
Lidocaine hydrochloride
Lidocainum
Lidocainum [INN-Latin]
Lidocare Mist
Lidocaton
Lidocream 4
Lidocream 5
Lidoderm
Lidoderm 5
Lidoject-1
Lidoject-2
Lifestyles Epic Male Genital Desensitizer
Lignocaine
Lignocainum
Lingocaine
Lmx4
Lmx5
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
Numb Master Topical Anesthetic
Numb Nuts
Ocean Potion Instant Burn Relief Ice
Octocaine
Octocaine-100
Octocaine-50
Plum Smooth Plumb Numb Gelee
Premjact Male Desensitizer Pound International
Prestwick0_000050
Prestwick1_000050
Prestwick2_000050
Prestwick3_000050
Recticare
Remicaine
Rocephin Kit
Rucaina
S1357_Selleck
SAM001247018
SMR000058189
SPBio_001525
SPBio_002100
STK552033
Simplicity Desensitizing
Simply Numb Endure
Solarcaine
Solarcaine aloe extra burn relief cream
Solcain
Sole Serum
Spectrum2_001343
Spectrum3_001392
Spectrum4_000070
Spectrum5_001549
Spectrum_001118
UNII-98PI200987
WLN: 2N2 & 1VMR B1 F1
Walgreens Aloe Vera Pain Relieving
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
Xylocard
Xylocitin
Xyloneural (free base)
Xylotox
Zcaine Fast Acting Anesthetic
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
8EMLA54
9
Capsaicin138404-86-41548943
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
10Antipruritics586

Interventional clinical trials:

(show all 12)
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 NeuropathyRecruitingNCT01911975Phase 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
5Evaluation Of The Efficacy And Safety Of Single Doses Of PF-05089771 In Patients With Primary (Inherited) ErythromelalgiaCompletedNCT01769274Phase 2
6Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber NeuropathyRecruitingNCT02607254Phase 2
7Fycompa in Subjects With Small Fiber Neuropathy (SFN)Active, not recruitingNCT02511873Phase 2
8Intravenous Immunoglobulin Therapy for Small Fiber NeuropathyNot yet recruitingNCT02637700Phase 2
9Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative StudyCompletedNCT01160887
10Nutritional Supplementation With Agmatine Sulfate During Small Fiber NeuropathyRecruitingNCT01524666
11Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot StudyEnrolling by invitationNCT02537951
12Evaluation 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 Neuropathy22 24 SCN9A

Anatomical Context for Erythermalgia, Primary

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MalaCards organs/tissues related to Erythermalgia, Primary:

33
Skin

Animal Models for Erythermalgia, Primary or affiliated genes

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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:

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Ile859ThrVAR_019947
2SCN9Ap.Leu869HisVAR_019948
3SCN9Ap.Ser241ThrVAR_032014
4SCN9Ap.Phe1460ValVAR_032019
5SCN9Ap.Gln10ArgVAR_064595
6SCN9Ap.Phe216SerVAR_064598
7SCN9Ap.Asn395LysVAR_064600
8SCN9Ap.Glu406LysVAR_064601
9SCN9Ap.Leu869PheVAR_064609
10SCN9Ap.Ala1643GluVAR_072280
11SCN9Ap.Ala1643ThrVAR_072281

Clinvar genetic disease variations for Erythermalgia, Primary:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SCN9ANM_002977.3(SCN9A): c.554G> A (p.Arg185His)single nucleotide variantPathogenicrs73969684GRCh38Chr 2, 166305834: 166305834
2NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys)single nucleotide variantPathogenicrs80356471GRCh37Chr 2, 167145076: 167145076
3NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg)single nucleotide variantPathogenicrs80356473GRCh37Chr 2, 167134666: 167134666
4NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro)single nucleotide variantPathogenicrs80356477GRCh37Chr 2, 167133747: 167133747
5SCN9ANM_002977.3(SCN9A): c.406A> G (p.Ile136Val)single nucleotide variantPathogenicrs80356468GRCh37Chr 2, 167163081: 167163081
6NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantPathogenicrs200945460GRCh37Chr 2, 167137018: 167137018
7NM_002977.3(SCN9A): c.2573T> A (p.Leu858His)single nucleotide variantPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
8NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)single nucleotide variantPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
9SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)single nucleotide variantPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
10NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)single nucleotide variantPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
11NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)single nucleotide variantPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
12SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)single nucleotide variantPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
13SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)single nucleotide variantPathogenicrs267607030GRCh37Chr 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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GO Terms for genes affiliated with Erythermalgia, Primary

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Sources for Erythermalgia, Primary

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