MCID: ERY008
MIFTS: 47

Erythromelalgia

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

Aliases & Classifications for Erythromelalgia

MalaCards integrated aliases for Erythromelalgia:

Name: Erythromelalgia 12 74 52 25 54 43 15 71
Erythermalgia 12 74 25
Primary Erythromelalgia 52 25
Primary Erythermalgia 52 71
Familial Erythromelalgia 25

Classifications:



External Ids:

Disease Ontology 12 DOID:9240
ICD9CM 34 443.82
MeSH 43 D004916
NCIt 49 C34593
SNOMED-CT 67 37151006
ICD10 32 I73.81
UMLS 71 C0014804 C0014805

Summaries for Erythromelalgia

Genetics Home Reference : 25 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. The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs. Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.

MalaCards based summary : Erythromelalgia, also known as erythermalgia, is related to erythermalgia, primary and paroxysmal extreme pain disorder, and has symptoms including constipation, pruritus and myalgia. 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 Developmental Biology. The drugs Carbamazepine and Tranquilizing Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are Increased transferrin (TF) endocytosis and behavior/neurological

Disease Ontology : 12 A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.

NIH Rare Diseases : 52 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.

Wikipedia : 74 Erythromelalgia, formerly known as Mitchell's disease (after Silas Weir Mitchell), is a rare vascular... more...

Related Diseases for Erythromelalgia

Diseases in the Erythromelalgia family:

Scn9a-Related Inherited Erythromelalgia Secondary Erythromelalgia

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

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 34.0 SCN9A SCN11A SCN10A
2 paroxysmal extreme pain disorder 32.3 SCN9A SCN4B SCN1A-AS1 SCN11A SCN10A
3 essential thrombocythemia 32.3 THBD PPBP PF4
4 sodium channelopathy-related small fiber neuropathy 30.5 SCN9A SCN11A SCN10A
5 vascular disease 30.5 THBD PPBP PF4 GLA
6 peripheral vascular disease 30.2 THBD SCN9A PPBP PF4
7 thrombophilia 30.1 THBD PPBP PF4
8 peripheral nervous system disease 30.0 SCN9A SCN11A SCN10A
9 febrile seizures 29.9 SCN9A SCN1A-AS1 SCN1A
10 episodic ataxia 28.8 SCN8A SCN4A SCN1A
11 paine syndrome 27.8 SCN9A SCN8A SCN4A SCN3A SCN1A SCN11A
12 migraine with or without aura 1 26.9 TRPV3 SCN9A SCN8A SCN4A SCN3A SCN1A
13 scn9a-related inherited erythromelalgia 12.4
14 secondary erythromelalgia 12.4
15 obsolete: erythromelalgia 12.2
16 polycythemia 10.5
17 neuropathy 10.5
18 polycythemia vera 10.5
19 raynaud phenomenon 10.5
20 febrile seizures, familial, 1 10.5 SCN9A SCN1A-AS1
21 generalized epilepsy with febrile seizures plus, type 7 10.5 SCN9A SCN1A-AS1
22 fourth cranial nerve palsy 10.4 PPBP PF4
23 thrombocytosis 10.4
24 chronic pain 10.4
25 polyneuropathy 10.3
26 hemorrhagic disease 10.2 THBD PPBP PF4
27 thrombophilia due to activated protein c resistance 10.2 THBD PF4
28 myelofibrosis 10.2
29 hydrops, lactic acidosis, and sideroblastic anemia 10.2
30 pain sensitivity quantitative trait locus 1 10.2
31 myeloproliferative neoplasm 10.2
32 axonal neuropathy 10.2
33 vasculitis 10.2
34 normokalemic periodic paralysis 10.2 SCN7A SCN4A
35 scn1a seizure disorders 10.2 SCN9A SCN1A
36 hypokalemic periodic paralysis, type 2 10.2 SCN7A SCN4A
37 genetic epilepsy with febrile seizures plus 10.2 SCN9A SCN1A
38 venous insufficiency 10.2
39 encephalopathy 10.2
40 raynaud disease 10.1
41 fabry disease 10.1
42 reflex sympathetic dystrophy 10.1
43 leukemia, chronic myeloid 10.1
44 myelodysplastic syndrome 10.1
45 algoneurodystrophy 10.1
46 sensory peripheral neuropathy 10.1
47 causalgia 10.1
48 purpura 10.1
49 connective tissue disease 10.1
50 lupus erythematosus 10.1

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to Erythromelalgia

Symptoms & Phenotypes for Erythromelalgia

UMLS symptoms related to Erythromelalgia:


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

GenomeRNAi Phenotypes related to Erythromelalgia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.32 PF4 PPBP SCN11A SCN1A SCN4A SCN5A

MGI Mouse Phenotypes related to Erythromelalgia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 GLA SCN10A SCN11A SCN1A SCN3A SCN4A

Drugs & Therapeutics for Erythromelalgia

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2 Tranquilizing Agents Phase 4
3 Cytochrome P-450 CYP3A Inducers Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Psychotropic Drugs Phase 4
6 Sodium Channel Blockers Phase 4
7 Anticonvulsants Phase 4
8 Antimanic Agents Phase 4
9 Central Nervous System Depressants Phase 4
10 Diuretics, Potassium Sparing Phase 4
11 Analgesics Phase 4
12
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
13
Hydroxyurea Approved Phase 2 127-07-1 3657
14
Anagrelide Approved Phase 2 68475-42-3 2182
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
17 Pharmaceutical Solutions Phase 2
18 Adjuvants, Immunologic Phase 2
19 interferons Phase 2
20
Uric acid Investigational 69-93-2 1175
21 Complement System Proteins

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Pilot Study on the Response of Inherited Erythromelalgia Patients With NaV1.7 Mutations to Carbamazepine: Clinical Imaging Study Completed NCT02214615 Phase 4 Carbamazepine;Placebo
2 Efficacy, Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber Neuropathy: a Randomized, Double-blind, Placebo Controlled, Crossover Trial Completed NCT01911975 Phase 3 Lacosamide;Placebo
3 Phase 2a, Exploratory, Double-blind, Placebo-controlled Two-part Study to Evaluate the Safety, Efficacy, Tolerability and Pharmacokinetics of Topically Applied XPF-002 (XEN402 8% w/w Ointment) in Patients With Primary/Inherited Erythromelalgia Completed NCT01486446 Phase 1, Phase 2 XPF-002;Placebo
4 Phase 2a, Double-blind, Placebo-controlled, 2-period, Crossover Study to Evaluate the Safety, Efficacy and Pharmacokinetics of Multiple Oral Doses of XPF-001 in Patients With Inherited Erythromelalgia. Completed NCT01090622 Phase 1, Phase 2 XPF-001;Placebo
5 An Exploratory, Randomized, Double-Blind, Crossover Study to Compare the Efficacy and Safety of BIIB074 Versus Placebo in the Treatment of Primary Inherited Erythromelalgia Completed NCT02917187 Phase 2 BIIB074;Placebo
6 A RANDOMIZED, DOUBLE BLIND THIRD PARTY OPEN PLACEBO-CONTROLLED EXPLORATORY STUDY TO EVALUATE THE EFFICACY AND SAFETY OF SINGLE DOSES OF PF-05089771 IN PATIENTS WITH PRIMARY (INHERITED) ERYTHROMELALGIA Completed NCT01769274 Phase 2 PF-05089771;Placebo
7 Ruxolitinib Versus Best Available Therapy in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia - The Ruxo-BEAT Trial Recruiting NCT02577926 Phase 2 Ruxolitinib;BAT
8 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner Completed NCT03044340
9 Spinal Cord Stimulation for Refractory Pain in Erythromelalgia Recruiting NCT04039633
10 Painful Channelopathies Study Recruiting NCT02696746
11 Risk Factors and Predictors of Thrombosis in Patients With Philadelphia Negative Myeloprolferative Neoplasms Not yet recruiting NCT03599700

Search NIH Clinical Center for Erythromelalgia

Cochrane evidence based reviews: erythromelalgia

Genetic Tests for Erythromelalgia

Anatomical Context for Erythromelalgia

MalaCards organs/tissues related to Erythromelalgia:

40
Skin, Brain, Spinal Cord, Heart, Breast, Eye, Endothelial

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 683)
# Title Authors PMID Year
1
Review of primary and secondary erythromelalgia. 61 52
30609105 2019
2
Familial pain syndromes from mutations of the NaV1.7 sodium channel. 54 61
20146699 2010
3
Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. 54 61
19549232 2009
4
A sodium channel gene SCN9A polymorphism that increases nociceptor excitability. 54 61
20033988 2009
5
Voltage-gated sodium channels: therapeutic targets for pain. 54 61
19818036 2009
6
[Primary erythermalgia: efficacy of oxcarbazepine]. 54 61
19361700 2009
7
Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A. 54 61
18347287 2008
8
Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7. 54 61
17239250 2007
9
[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene]. 54 61
16471234 2006
10
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. 54 61
16216943 2005
11
Treatment of symptomatic patients with essential thrombocythemia: effectiveness of anagrelide. 54 61
16138352 2005
12
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. 54 61
15385606 2004
13
Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain. 54 61
15314237 2004
14
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 54 61
14985375 2004
15
Platelet-mediated microvascular inflammation and thrombosis in thrombocythemia vera: a distinct aspirin-responsive arterial thrombophilia, which transforms into a bleeding diathesis at increasing platelet counts. 54 61
12781799 2003
16
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. 54 61
8883266 1996
17
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. 61
31895432 2020
18
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. 61
31132363 2019
19
[Erythromelalgia: skin redness and pain]. 61
31485751 2019
20
A case of sporadic erythromelalgia presenting with small fibre neuropathy. 61
31601551 2019
21
Vascular acrosyndromes in young adult population. Definition of clinical symptoms and connections to joint hypermobility. 61
31177398 2019
22
Behavioral therapy ceased cold water immersion dependence in a patient with familial erythromelalgia caused by SCN9A mutation. 61
31517003 2019
23
Pediatric red ear syndrome: A case report of an erythromelalgia type and review of the literature. 61
31259429 2019
24
Erythromelalgia successfully treated with sulodexide. 61
31495920 2019
25
Microvascular imaging of primary erythromelalgia. 61
31292429 2019
26
Anomalous enhancement of resurgent Na+ currents at high temperatures by SCN9A mutations underlies the episodic heat-enhanced pain in inherited erythromelalgia. 61
31439884 2019
27
Simvastatin-induced erythromelalgia: less is more. 61
31291834 2019
28
Botulinum Toxin as Successful Treatment of Refractory Erythromelalgia Pain. 61
30605501 2019
29
The role of Nav1.7 in human nociceptors: insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients. 61
30720580 2019
30
Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel. 61
31309012 2019
31
Pediatric erythromelalgia treated with epidural ropivacaine infusion. 61
30976641 2019
32
Erythromelalgia and Peripheral Nerve Block: A Case Report. 61
30285967 2019
33
Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. 61
30416015 2019
34
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy. 61
30554136 2019
35
Case Report and Literature Review: Interventional Management of Erythromelalgia. 61
31592193 2019
36
Erythromelalgia: improvement in pain with transcranial magnetic stimulation. 61
29524220 2019
37
Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp. 61
30459225 2019
38
Erythermalgia Involving the Face Alone: Two Case Reports. 61
31017985 2019
39
Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia. 61
30126782 2018
40
Insensitivity to Pain upon Adult-Onset Deletion of Nav1.7 or Its Blockade with Selective Inhibitors. 61
30301756 2018
41
Mutation in Nav 1.7 causes high olfactory sensitivity. 61
29934995 2018
42
Cyclosporine-induced Erythromelalgia. 61
30648046 2018
43
[Pain management in children with erythromelalgia: case report]. 61
29402440 2018
44
Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report. 61
29624653 2018
45
Mindfulness-Based Cognitive Hypnotherapy and Skin Disorders. 61
29771216 2018
46
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T. 61
28658526 2018
47
Bone scan findings in erythromelalgia. 61
30006649 2018
48
Reply to: "Facial erythromelalgia?" 61
29678387 2018
49
Facial erythromelalgia? 61
29678386 2018
50
How a Simple Ankle Sprain Turned Into Neuropathic Pain: Complex Reflex Sympathetic Dystrophy Versus Erythromelalgia. 61
29121832 2018

Variations for Erythromelalgia

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
13.43 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
2
Show member pathways
13.37 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
3
Show member pathways
12.97 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
4
Show member pathways
12.75 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
5 12.56 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A
6
Show member pathways
12.55 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
7
Show member pathways
11.75 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
8
Show member pathways
11.73 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
9 10.8 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A

GO Terms for Erythromelalgia

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.15 TRPV3 THBD SCN9A SCN8A SCN7A SCN5A
2 plasma membrane GO:0005886 10.1 TRPV3 THBD SCN9A SCN8A SCN7A SCN5A
3 Z disc GO:0030018 9.61 SCN8A SCN5A SCN1A
4 axon GO:0030424 9.5 SCN9A SCN8A SCN7A SCN4A SCN3A SCN1A
5 intercalated disc GO:0014704 9.43 SCN5A SCN4B SCN1A
6 node of Ranvier GO:0033268 9.4 SCN8A SCN1A
7 axon initial segment GO:0043194 9.33 SCN8A SCN1A NAV1
8 voltage-gated sodium channel complex GO:0001518 9.32 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.11 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4B
2 transmembrane transport GO:0055085 10.1 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A
3 ion transmembrane transport GO:0034220 10.03 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN3A
4 membrane depolarization during action potential GO:0086010 9.97 SCN9A SCN8A SCN7A SCN5A SCN4A SCN3A
5 neuronal action potential GO:0019228 9.91 SCN9A SCN8A SCN7A SCN5A SCN4A SCN3A
6 sodium ion transmembrane transport GO:0035725 9.85 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN5A SCN4B SCN1A
8 regulation of ion transmembrane transport GO:0034765 9.65 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
9 AV node cell action potential GO:0086016 9.63 SCN5A SCN4B SCN10A
10 leukocyte chemotaxis GO:0030595 9.56 PPBP PF4
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.55 SCN5A SCN4B
12 positive regulation of sodium ion transport GO:0010765 9.54 SCN5A SCN4B
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.52 SCN5A SCN4B
14 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.51 SCN5A SCN10A
15 bundle of His cell action potential GO:0086043 9.49 SCN5A SCN10A
16 sodium ion transport GO:0006814 9.32 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A

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

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.96 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
2 voltage-gated sodium channel activity GO:0005248 9.85 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
3 voltage-gated ion channel activity GO:0005244 9.65 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
4 ion channel binding GO:0044325 9.54 SCN5A SCN4B SCN10A
5 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.32 SCN5A SCN4B
6 ion channel activity GO:0005216 9.32 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A

Sources for Erythromelalgia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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