MCID: ERY008
MIFTS: 53

Erythromelalgia

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

Aliases & Classifications for Erythromelalgia

MalaCards integrated aliases for Erythromelalgia:

Name: Erythromelalgia 12 72 49 24 55 51 41 14 69
Primary Erythromelalgia 24 28
Primary Erythermalgia 49 69
Familial Erythromelalgia 24
Erythermalgia 24

Characteristics:

Orphanet epidemiological data:

55
erythromelalgia
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:9240
ICD10 32 I73.81
ICD9CM 34 443.82
MeSH 41 D004916
NCIt 46 C34593
SNOMED-CT 64 238777005 37151006
Orphanet 55 ORPHA1956
MESH via Orphanet 42 D004916
UMLS via Orphanet 70 C0014804
ICD10 via Orphanet 33 I73.8

Summaries for Erythromelalgia

NIH Rare Diseases : 49 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 erythermalgia, primary and paroxysmal extreme pain disorder, and has symptoms including pruritus, leukemia and hypothermia. An important gene associated with Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and G-Beta Gamma Signaling. The drugs Carbamazepine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord, and related phenotype is integument.

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 : 72 Erythromelalgia, formerly known as Mitchell\'s disease (after Silas Weir Mitchell), is a rare vascular... more...

Related Diseases for Erythromelalgia

Diseases related to Erythromelalgia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 33.1 SCN10A SCN9A
2 paroxysmal extreme pain disorder 31.6 SCN10A SCN4B SCN9A
3 paine syndrome 29.9 SCN10A SCN9A
4 essential thrombocythemia 29.8 PPBP THBD
5 thrombophilia 29.1 PPBP THBD
6 scn9a-related inherited erythromelalgia 12.0
7 episodic pain syndrome, familial, 1 10.4
8 neuropathy 10.2
9 neuronitis 10.0
10 sodium channelopathy-related small fiber neuropathy 10.0 SCN10A SCN9A
11 polycythemia vera 10.0
12 burns 10.0
13 polycythemia 10.0
14 indifference to pain, congenital, autosomal recessive 10.0 SCN10A SCN9A
15 trigeminal neuralgia 10.0 SCN10A SCN9A
16 peripheral vascular disease 9.9 PPBP THBD
17 hemorrhagic disease 9.9 PPBP THBD
18 purpura 9.9
19 lupus erythematosus 9.9
20 reflex sympathetic dystrophy 9.8
21 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 9.8
22 diabetic neuropathy 9.8
23 hereditary sensory neuropathy 9.8
24 algoneurodystrophy 9.8
25 cerebritis 9.8
26 axonal neuropathy 9.8
27 endotheliitis 9.8
28 multiple sclerosis 9.6
29 systemic lupus erythematosus 9.6
30 migraine with or without aura 1 9.6
31 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.6
32 myelofibrosis 9.6
33 gillessen-kaesbach-nishimura syndrome 9.6
34 fabry disease 9.6
35 ataxia and polyneuropathy, adult-onset 9.6
36 stroke, ischemic 9.6
37 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.6
38 alcohol abuse 9.6
39 glomerulonephritis 9.6
40 leukemia 9.6
41 thrombocytopenia 9.6
42 lymphoma 9.6
43 thrombosis 9.6
44 thrombotic thrombocytopenic purpura 9.6
45 hemiplegia 9.6
46 heart disease 9.6
47 hypertensive heart disease 9.6
48 von willebrand's disease 9.6
49 polyneuropathy 9.6
50 panniculitis 9.6

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to Erythromelalgia

Symptoms & Phenotypes for Erythromelalgia

Human phenotypes related to Erythromelalgia:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 55 31 frequent (33%) Frequent (79-30%) HP:0000989
2 leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001909
3 hypothermia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002045
4 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
5 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
6 peripheral neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009830
7 erythema 55 31 hallmark (90%) Very frequent (99-80%) HP:0010783
8 abnormality of thrombocytes 55 Occasional (29-5%)
9 abnormal thrombocyte morphology 31 occasional (7.5%) HP:0001872

UMLS symptoms related to Erythromelalgia:


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

MGI Mouse Phenotypes related to Erythromelalgia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 SCN10A SCN9A THBD TRPV3

Drugs & Therapeutics for Erythromelalgia

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2 Analgesics Phase 4
3 Central Nervous System Depressants Phase 4
4 Tranquilizing Agents Phase 4
5 Analgesics, Non-Narcotic Phase 4
6 Cytochrome P-450 CYP3A Inducers Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Anticonvulsants Phase 4
9 Antimanic Agents Phase 4
10 Psychotropic Drugs Phase 4
11 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations Completed NCT02214615 Phase 4 Carbamazepine;Placebo
2 Phase 2a, Exploratory Study to Evaluate the Safety, Efficacy, Tolerability and Pharmacokinetics of XPF-002 in Patients With Primary/Inherited Erythromelalgia Completed NCT01486446 Phase 1, Phase 2 XPF-002;Placebo
3 A Phase 2a Study of BIIB074 in the Treatment of Erythromelalgia Completed NCT02917187 Phase 2 BIIB074;Placebo
4 Evaluation Of The Efficacy And Safety Of Single Doses Of PF-05089771 In Patients With Primary (Inherited) Erythromelalgia Completed NCT01769274 Phase 2 PF-05089771;Placebo
5 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2 XPF-001;Placebo
6 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner and QST Recruiting NCT03044340
7 Painful Channelopathies Study Recruiting NCT02696746

Search NIH Clinical Center for Erythromelalgia

Cochrane evidence based reviews: erythromelalgia

Genetic Tests for Erythromelalgia

Genetic tests related to Erythromelalgia:

# Genetic test Affiliating Genes
1 Primary Erythromelalgia 28 SCN9A

Anatomical Context for Erythromelalgia

MalaCards organs/tissues related to Erythromelalgia:

38
Skin, Eye, Spinal Cord, Endothelial, Dorsal Root Ganglion, Testes, Brain

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 322)
# Title Authors Year
1
Secondary erythromelalgia: a tryptophan dietary supplement-induced case associated with elevated 5-hydroxyindoleacetic acid (5HIAA) urinary levels. ( 29152720 )
2018
2
Erythromelalgia. ( 29299961 )
2018
3
Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7. ( 28418213 )
2017
4
Burning pain: axonal dysfunction in erythromelalgia. ( 28134657 )
2017
5
Buerger Test for Erythromelalgia Revisited. ( 28134954 )
2017
6
Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation. ( 28490900 )
2017
7
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
8
Erythromelalgia involving the face. ( 28541877 )
2017
9
How a Simple Ankle Sprain Turned Into Neuropathic Pain: Complex Reflex Sympathetic Dystrophy Versus Erythromelalgia. ( 29121832 )
2017
10
Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia. ( 28751508 )
2017
11
Erythromelalgia: Identification of a corticosteroid-responsive subset. ( 28413058 )
2017
12
Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report. ( 27699862 )
2017
13
A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7. ( 28990532 )
2017
14
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. ( 27211852 )
2016
15
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. ( 27099175 )
2016
16
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. ( 27413160 )
2016
17
Pain: Blocking pain in inherited erythromelalgia. ( 27245395 )
2016
18
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. ( 27653502 )
2016
19
Clinical features and management of erythromelalgia: long term follow-up of 46 cases. ( 27494156 )
2016
20
Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade. ( 27799815 )
2016
21
Erythromelalgia: a Red Neuralgia. ( 27411800 )
2016
22
Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia. ( 27512936 )
2016
23
Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants. ( 27781142 )
2016
24
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. ( 27456866 )
2016
25
Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. ( 27158041 )
2016
26
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. ( 27598514 )
2016
27
Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia. ( 27926760 )
2016
28
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. ( 27088781 )
2016
29
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. ( 26920677 )
2016
30
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse. ( 26804376 )
2016
31
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon I+-2b: A case report and review of the literature. ( 27168811 )
2016
32
Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7. ( 25993546 )
2015
33
A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China. ( 25820221 )
2015
34
Early detection of an epidemic erythromelalgia outbreak using Baidu search data. ( 26218589 )
2015
35
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. ( 26486037 )
2015
36
The Complexity of Pain Management in Patients with Erythromelalgia. ( 26528699 )
2015
37
Primary erythromelalgia: a review. ( 26419464 )
2015
38
Dual Effect of Ziconotide in Primary Erythromelalgia. ( 26609309 )
2015
39
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. ( 25674012 )
2015
40
Erythromelalgia with a linear pattern in a 12-year-old girl. ( 26315201 )
2015
41
Topically Applied Midodrine, 0.2%, an I+1-Agonist, for the Treatment of Erythromelalgia. ( 25946117 )
2015
42
Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7. ( 25575597 )
2015
43
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. ( 24452206 )
2014
44
Hansen's disease associated with erythromelalgia mimicking Lupus erythematosus. ( 24616859 )
2014
45
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. ( 24866741 )
2014
46
A case of secondary erythromelalgia with perivascular and intramural mucin. ( 25302988 )
2014
47
Paroxysmal burning pain caused by erythromelalgia. ( 24814455 )
2014
48
Facial erythromelalgia: a rare entity to consider in the differential diagnosis of connective tissue diseases. ( 25454048 )
2014
49
Recurrent Facial Erythema with Burning Sensation and Increased Temperature: A Variant of Erythromelalgia or a New Entity? ( 24433512 )
2014
50
Aspirin-Responsive, Migraine-Like Transient Cerebral and Ocular Ischemic Attacks and Erythromelalgia in JAK2-Positive Essential Thrombocythemia and Polycythemia Vera. ( 25116182 )
2014

Variations for Erythromelalgia

ClinVar genetic disease variations for Erythromelalgia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh38 Chromosome 2, 166278156: 166278156
2 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
3 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
4 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081
5 SCN9A NM_002977.3(SCN9A): c.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh37 Chromosome 2, 167133761: 167133761
6 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh37 Chromosome 2, 167133791: 167133791
7 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
8 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
9 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789

Expression for Erythromelalgia

Search GEO for disease gene expression data for Erythromelalgia.

Pathways for Erythromelalgia

Pathways related to Erythromelalgia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 PPBP SCN10A SCN4B SCN9A
2
Show member pathways
12.48 SCN10A SCN4B SCN9A
3
Show member pathways
12.27 SCN10A SCN4B SCN9A
4
Show member pathways
12.09 SCN10A SCN4B SCN9A
5 11.97 SCN10A SCN9A TRPV3
6
Show member pathways
11.43 SCN10A SCN4B SCN9A
7
Show member pathways
11.01 SCN10A SCN4B SCN9A
8 10.28 SCN10A SCN4B SCN9A

GO Terms for Erythromelalgia

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 8.8 SCN10A SCN4B SCN9A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.8 SCN10A SCN4B SCN9A TRPV3
2 transmembrane transport GO:0055085 9.65 SCN10A SCN9A TRPV3
3 ion transport GO:0006811 9.62 SCN10A SCN4B SCN9A TRPV3
4 regulation of ion transmembrane transport GO:0034765 9.54 SCN10A SCN4B SCN9A
5 sensory perception of pain GO:0019233 9.46 SCN10A SCN9A
6 neuronal action potential GO:0019228 9.43 SCN10A SCN9A
7 sodium ion transport GO:0006814 9.43 SCN10A SCN4B SCN9A
8 membrane depolarization during action potential GO:0086010 9.4 SCN10A SCN9A
9 sodium ion transmembrane transport GO:0035725 9.33 SCN10A SCN4B SCN9A
10 AV node cell action potential GO:0086016 8.96 SCN10A SCN4B
11 regulation of postsynaptic membrane potential GO:0060078 8.8 SCN10A SCN4B SCN9A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.33 SCN10A SCN4B SCN9A
2 ion channel activity GO:0005216 9.32 SCN10A SCN9A
3 ion channel binding GO:0044325 9.26 SCN10A SCN4B
4 sodium channel activity GO:0005272 9.13 SCN10A SCN4B SCN9A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN10A SCN4B SCN9A

Sources for Erythromelalgia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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