MCID: ERY008
MIFTS: 50

Erythromelalgia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases

Aliases & Classifications for Erythromelalgia

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Erythromelalgia:

Name: Erythromelalgia 11 46 24 13 52 48 37 66
Primary Erythromelalgia 24 25
Primary Erythermalgia 46 66
 
Familial Erythromelalgia 24
Mitchell Disease 46
Erythermalgia 24

Characteristics:

Orphanet epidemiological data:

52
erythromelalgia:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:9240
ICD1028 I73.81
ICD9CM30 443.82
MeSH37 D004916
NCIt43 C34593
SNOMED-CT60 238777005, 37151006
Orphanet52 ORPHA1956
ICD10 via Orphanet29 I73.8
MESH via Orphanet38 D004916
UMLS via Orphanet67 C0014804

Summaries for Erythromelalgia

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NIH Rare Diseases:46 Erythromelalgia (em) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. this condition may occur spontaneously (primary em) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary em). episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. about 15% of cases are caused by mutations in the scn9a gene and are inherited in an autosomal dominant manner. other cases may be caused by unidentified genes or by non-genetic factors. treatment depends on the underlying cause and may include topical and/or oral medications. in some cases, the condition goes away without treatment. last updated: 8/4/2016

MalaCards based summary: Erythromelalgia, also known as primary erythromelalgia, is related to paroxysmal extreme pain disorder and scn9a-related inherited erythromelalgia, and has symptoms including peripheral neuropathy, pruritus and abnormality of thrombocytes. An important gene associated with Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways are L1CAM interactions and Phase 1 - inactivation of fast Na+ channels. Affiliated tissues include skin, spinal cord and dorsal root ganglion.

Genetics Home Reference:24 Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.

Wikipedia:69 Erythromelalgia, formerly known as Mitchell\'s disease (after Silas Weir Mitchell), acromelalgia, red... more...

Related Diseases for Erythromelalgia

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Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to erythromelalgia

Symptoms for Erythromelalgia

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Symptoms:

 52 (show all 8)
  • pruritus
  • abnormality of thrombocytes
  • leukemia
  • hypothermia
  • recurrent respiratory infections
  • vasculitis
  • peripheral neuropathy
  • erythema

HPO human phenotypes related to Erythromelalgia:

(show all 7)
id Description Frequency HPO Source Accession
1 peripheral neuropathy hallmark (90%) HP:0009830
2 pruritus typical (50%) HP:0000989
3 abnormality of thrombocytes occasional (7.5%) HP:0001872
4 leukemia occasional (7.5%) HP:0001909
5 hypothermia occasional (7.5%) HP:0002045
6 recurrent respiratory infections occasional (7.5%) HP:0002205
7 vasculitis occasional (7.5%) HP:0002633

UMLS symptoms related to Erythromelalgia:


cyanosis, flushing, pain, mitral facies, hot flushes, constipation, diarrhea, pruritus, myalgia, jaw pain, dryness of eye, blurred vision

Drugs & Therapeutics for Erythromelalgia

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CarbamazepinePhase 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
2
AZD7762Phase 376860352-01-8, 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
PregabalinPhase 2, Phase 1348148553-50-85486971
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 channel blockersPhase 2, Phase 11889
5
Hydrogen peroxide487722-84-1784
Synonyms:
Adeka Super EL
Albone
Albone 35
Albone DS
Anti-Keim 50
Asepticper
Baquashock
CIX
Clarigel Gold
Crestal Whitestrips
Crystacide
Dentasept
Deslime LP
Hioxyl
Hipox
Hybrite
Hydrogen dioxide
Hydrogen peroxide
Inhibine
Lase Peroxide
Lensan A
 
Magic Bleaching
Metrokur
Mirasept
Nite White Excel 2
Odosat D
Opalescence Xtra
Oxigenal
Oxydol
Oxyfull
Oxysept
Oxysept I
Pegasyl
Perhydrol
Perone
Peroxaan
Peroxclean
Quasar Brite
Select Bleach
Superoxol
T-Stuff
Whiteness HP
Whitespeed
Xtra White
6
Lidocaine1168137-58-63676
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
7EMLA64
8
Prilocaine77721-50-64906
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
9
Capsaicin163404-86-41548943
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
10
BiotinNutraceutical4058-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S

Interventional clinical trials:

(show all 18)
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
5Evaluation Of The Efficacy And Safety Of Single Doses Of PF-05089771 In Patients With Primary (Inherited) ErythromelalgiaCompletedNCT01769274Phase 2
6Intravenous Immunoglobulin Therapy for Small Fiber NeuropathyRecruitingNCT02637700Phase 2
7Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber NeuropathyRecruitingNCT02607254Phase 2
8Fycompa in Subjects With Small Fiber Neuropathy (SFN)Active, not recruitingNCT02511873Phase 2
9A Phase 2a Study of BIIB074 in the Treatment of ErythromelalgiaEnrolling by invitationNCT02917187Phase 2
10Neuropathic Pain Syndrome Patient Study (MK-0000-072)CompletedNCT00570310Phase 1
11Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative StudyCompletedNCT01160887
12Painful Channelopathies StudyRecruitingNCT02696746
13Dorsal Root Ganglion Stimulation for the Management of Painful Intractable Small Fibre Neuropathy:RecruitingNCT02435004
14Nutritional Supplementation With Agmatine Sulfate During Small Fiber NeuropathyRecruitingNCT01524666
15Small-fiber Neuropathy in Chronic Kidney DiseaseRecruitingNCT01078857
16Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot StudyEnrolling by invitationNCT02537951
17Spinal Cord Stimulation in Small Fibre NeuropathyNot yet recruitingNCT02905396
18Evaluation of Pregabalin in Idiopathic Small Fiber NeuropathySuspendedNCT00787462

Search NIH Clinical Center for Erythromelalgia


Cochrane evidence based reviews: erythromelalgia

Genetic Tests for Erythromelalgia

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Genetic tests related to Erythromelalgia:

id Genetic test Affiliating Genes
1 Primary Erythromelalgia25

Anatomical Context for Erythromelalgia

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MalaCards organs/tissues related to Erythromelalgia:

34
Skin, Spinal cord, Dorsal root ganglion, Kidney, Eye, Endothelial, Brain

Animal Models for Erythromelalgia or affiliated genes

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Publications for Erythromelalgia

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Articles related to Erythromelalgia:

(show top 50)    (show all 306)
idTitleAuthorsYear
1
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon I+-2b: A case report and review of the literature. (27168811)
2016
2
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. (27598514)
2016
3
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. (27456866)
2016
4
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. (27211852)
2016
5
Early detection of an epidemic erythromelalgia outbreak using Baidu search data. (26218589)
2015
6
Paroxysmal burning pain caused by erythromelalgia. (24814455)
2014
7
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. (24866741)
2014
8
Subcutaneous panniculitis like T cell lymphoma associated with erythromelalgia. (25121382)
2014
9
Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. (23762561)
2013
10
Localized secondary erythromelalgia in an 11-year-old boy. (22612394)
2013
11
Primary erythromelalgia with severe ulcers and successful ulcer treatment with sorbalgon. (22134130)
2012
12
Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling. (22365309)
2012
13
'Hot feet - hot brain': gene and brain dysfunction in erythromelalgia. (22405816)
2012
14
Pediatric-isolated auricular erythromelalgia: a case report. (23008794)
2012
15
Primary erythromelalgia with leukonychia combined with ulcerations and infection by Monilia guilliermondii. (21421200)
2011
16
Massage therapy techniques as pain management for erythromelalgia: a case report. (21589683)
2010
17
Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy. (19481586)
2010
18
Red ear syndrome and auricular erythromelalgia: the same condition? (19489849)
2009
19
Treatment of familial erythromelalgia with venlafaxine. (17567325)
2007
20
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
21
Thermoregulatory sweat testing in patients with erythromelalgia. (17178984)
2006
22
Erythromelalgia: small-fiber neuropathy by any other name? (15995080)
2005
23
Erythromelalgia with subsequent digital necrosis, glomerulonephritis, and antiphospholipid antibodies. (16357758)
2005
24
The use of regional anaesthetic blockade in a child with recurrent erythromelalgia. (12495966)
2003
25
Lidocaine patch for pain of erythromelalgia. (11790162)
2002
26
Neurophysiologic and vascular studies in erythromelalgia: a retrospective analysis. (19078553)
1999
27
Erythromelalgia pain managed with gabapentin. (9105243)
1997
28
Erythromelalgia: a clinical study of 87 cases. (9350163)
1997
29
Erythromelalgia and vascular complications in polycythemia vera. (9387203)
1997
30
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. (8883266)
1996
31
Erythromelalgia responding to aspirin. (20948053)
1996
32
Treatment of primary erythromelalgia with cyproheptadine. (8740669)
1996
33
Refractory idiopathic erythromelalgia. (8610879)
1996
34
Erythromelalgia and erythermalgia: lumpers and splitters. (8056472)
1994
35
Erythromelalgia and erythermalgia: diagnostic differentiation. (8056469)
1994
36
Erythromelalgia: association with hereditary sensory neuropathy and response to amitriptyline. (8451013)
1993
37
Erythromelalgia in a patient with thrombotic thrombocytopenic purpura. (1613144)
1992
38
Erythromelalgia--the role of hypnotherapy. (1561190)
1992
39
Erythromelalgia. (2242945)
1990
40
Erythromelalgia and myeloproliferative disorders. (2643412)
1989
41
Thrombocythaemic erythromelalgia in chronic myeloproliferative and myelodysplastic disorders. (2779694)
1989
42
Erythromelalgia--pathophysiological and therapeutic aspects. A preliminary report. (3559792)
1987
43
Erythromelalgia--not so benign. (3592957)
1987
44
Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. (3977194)
1985
45
Nifedipine and erythromelalgia. (6614705)
1983
46
Erythromelalgia. (535232)
1979
47
Successful treatment of erythromelalgia with sodium nitroprusside. (430305)
1979
48
Erythromelalgia--a case for biofeedback. (252715)
1978
49
ERYTHROMELALGIA. (14209561)
1964
50
Case of (?) Erythromelalgia: for Diagnosis. (19985941)
1927

Variations for Erythromelalgia

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Expression for genes affiliated with Erythromelalgia

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Search GEO for disease gene expression data for Erythromelalgia.

Pathways for genes affiliated with Erythromelalgia

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Pathways related to Erythromelalgia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6SCN4B, SCN9A
2
Show member pathways
9.6SCN4B, SCN9A
39.6SCN4B, SCN9A

GO Terms for genes affiliated with Erythromelalgia

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Cellular components related to Erythromelalgia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:00015189.6SCN4B, SCN9A

Biological processes related to Erythromelalgia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of postsynaptic membrane potentialGO:00600789.6SCN4B, SCN9A
2sodium ion transportGO:00068149.6SCN4B, SCN9A
3sodium ion transmembrane transportGO:00357259.5SCN4B, SCN9A

Molecular functions related to Erythromelalgia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:00052489.6SCN4B, SCN9A

Sources for Erythromelalgia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet