MCID: ERY008
MIFTS: 48

Erythromelalgia

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

Aliases & Classifications for Erythromelalgia

MalaCards integrated aliases for Erythromelalgia:

Name: Erythromelalgia 12 77 54 26 56 45 15 74
Primary Erythromelalgia 54 26
Primary Erythermalgia 54 74
Familial Erythromelalgia 26
Erythermalgia 26

Classifications:



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Disease Ontology 12 DOID:9240
ICD9CM 36 443.82
MeSH 45 D004916
NCIt 51 C34593
SNOMED-CT 69 37151006
ICD10 34 I73.81

Summaries for Erythromelalgia

NIH Rare Diseases : 54 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.

MalaCards based summary : Erythromelalgia, also known as primary erythromelalgia, 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 Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Carbamazepine and Antimanic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye.

Genetics Home Reference : 26 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 : 77 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 79)
# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 33.7 SCN10A SCN9A
2 paroxysmal extreme pain disorder 32.2 SCN10A SCN4B SCN9A
3 paine syndrome 30.2 SCN10A SCN9A
4 polycythemia vera 30.0 PF4 THBD
5 essential thrombocythemia 29.8 PF4 PPBP THBD
6 secondary erythromelalgia 12.2
7 scn9a-related inherited erythromelalgia 12.1
8 neuropathy 10.4
9 polycythemia 10.2
10 sodium channelopathy-related small fiber neuropathy 10.1 SCN10A SCN9A
11 indifference to pain, congenital, autosomal recessive 10.1 SCN10A SCN9A
12 purpura 10.1
13 lupus erythematosus 10.1
14 trigeminal neuralgia 10.1 SCN10A SCN9A
15 encephalopathy 10.0
16 cervical rib 10.0
17 lichen sclerosus et atrophicus 10.0
18 lichen sclerosus 10.0
19 blood coagulation disease 10.0 PF4 THBD
20 thrombocytopenic purpura, autoimmune 10.0
21 reflex sympathetic dystrophy 10.0
22 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.0
23 diabetic neuropathy 10.0
24 algoneurodystrophy 10.0
25 thrombocytosis 10.0
26 sensory peripheral neuropathy 10.0
27 causalgia 10.0
28 axonal neuropathy 10.0
29 thrombophilia due to activated protein c resistance 10.0 PF4 THBD
30 long qt syndrome 1 9.9 SCN10A SCN4B
31 pfeiffer syndrome 9.8
32 breast cancer 9.8
33 multiple sclerosis 9.8
34 systemic lupus erythematosus 9.8
35 raynaud disease 9.8
36 myelofibrosis 9.8
37 fabry disease 9.8
38 leukemia, chronic myeloid 9.8
39 neuropathy, hereditary sensory and autonomic, type v 9.8
40 pain sensitivity quantitative trait locus 1 9.8
41 t-cell lymphoma, subcutaneous panniculitis-like 9.8
42 alcohol abuse 9.8
43 glomerulonephritis 9.8
44 leukemia 9.8
45 muscle disorders 9.8
46 thrombocytopenia 9.8
47 hereditary sensory neuropathy 9.8
48 lymphoma 9.8
49 pain agnosia 9.8
50 thrombosis 9.8

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

Drugs & Therapeutics for Erythromelalgia

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2 Antimanic Agents Phase 4
3 Central Nervous System Depressants Phase 4
4 Peripheral Nervous System Agents Phase 4,Phase 3
5 Psychotropic Drugs Phase 4
6 Sodium Channel Blockers Phase 4
7 Cytochrome P-450 CYP3A Inducers Phase 4
8 Analgesics Phase 4,Phase 3
9 Diuretics, Potassium Sparing Phase 4
10 Anticonvulsants Phase 4
11 Analgesics, Non-Narcotic Phase 4,Phase 3
12 Tranquilizing Agents Phase 4
13
Hydroxyurea Approved Phase 3 127-07-1 3657
14
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
15 Antirheumatic Agents Phase 3
16 Platelet Aggregation Inhibitors Phase 3
17 Nucleic Acid Synthesis Inhibitors Phase 3
18 Cyclooxygenase Inhibitors Phase 3
19 Anti-Inflammatory Agents, Non-Steroidal Phase 3
20 Antipyretics Phase 3
21 Anti-Inflammatory Agents Phase 3
22 Fibrinolytic Agents Phase 3
23 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 Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
3 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
4 A Phase 2a Study of BIIB074 in the Treatment of Erythromelalgia Completed NCT02917187 Phase 2 BIIB074;Placebo
5 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
6 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2 XPF-001;Placebo
7 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner and QST Completed NCT03044340 Not Applicable
8 Painful Channelopathies Study Recruiting NCT02696746

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:

42
Skin, Heart, Eye, Brain, Spinal Cord, Testes, Endothelial

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 349)
# Title Authors Year
1
Erythromelalgia: improvement in pain with transcranial magnetic stimulation. ( 29524220 )
2019
2
Erythromelalgia and Peripheral Nerve Block: A Case Report. ( 30285967 )
2019
3
Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. ( 30416015 )
2019
4
Botulinum Toxin as Successful Treatment of Refractory Erythromelalgia Pain. ( 30605501 )
2019
5
Review of primary and secondary erythromelalgia. ( 30609105 )
2019
6
The role of Nav1.7 in human nociceptors: insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients. ( 30720580 )
2019
7
Pediatric erythromelalgia treated with epidural ropivacaine infusion. ( 30976641 )
2019
8
How a Simple Ankle Sprain Turned Into Neuropathic Pain: Complex Reflex Sympathetic Dystrophy Versus Erythromelalgia. ( 29121832 )
2018
9
Secondary erythromelalgia: a tryptophan dietary supplement-induced case associated with elevated 5-hydroxyindoleacetic acid (5HIAA) urinary levels. ( 29152720 )
2018
10
Erythromelalgia. ( 29299961 )
2018
11
Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report. ( 29624653 )
2018
12
Erythromelalgia: a cutaneous manifestation of neuropathy? ( 29641704 )
2018
13
Facial erythromelalgia? ( 29678386 )
2018
14
Reply to: "Facial erythromelalgia?" ( 29678387 )
2018
15
Bone scan findings in erythromelalgia. ( 30006649 )
2018
16
Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia. ( 30126782 )
2018
17
Current pain management strategies for patients with erythromelalgia: a critical review. ( 30214279 )
2018
18
Cyclosporine-induced Erythromelalgia. ( 30648046 )
2018
19
Brain activity associated with pain in inherited erythromelalgia: stimulus-free pain engages brain areas involved in valuation and learning. ( 31080911 )
2018
20
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
21
Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report. ( 27699862 )
2017
22
Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia. ( 27926760 )
2017
23
Burning pain: axonal dysfunction in erythromelalgia. ( 28134657 )
2017
24
Buerger Test for Erythromelalgia Revisited. ( 28134954 )
2017
25
Erythromelalgia: Identification of a corticosteroid-responsive subset. ( 28413058 )
2017
26
Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7. ( 28418213 )
2017
27
Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation. ( 28490900 )
2017
28
Erythromelalgia involving the face. ( 28541877 )
2017
29
Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia. ( 28751508 )
2017
30
A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7. ( 28990532 )
2017
31
A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. ( 27211852 )
2017
32
Clinical features and management of erythromelalgia: long term follow-up of 46 cases. ( 27494156 )
2017
33
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse. ( 26804376 )
2016
34
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. ( 27598514 )
2016
35
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. ( 27653502 )
2016
36
Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants. ( 27781142 )
2016
37
Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade. ( 27799815 )
2016
38
A case of secondary erythromelalgia with perivascular and intramural mucin. ( 25302988 )
2016
39
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. ( 26920677 )
2016
40
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. ( 27088781 )
2016
41
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. ( 27099175 )
2016
42
Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. ( 27158041 )
2016
43
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon α-2b: A case report and review of the literature. ( 27168811 )
2016
44
Pain: Blocking pain in inherited erythromelalgia. ( 27245395 )
2016
45
Erythromelalgia: a Red Neuralgia. ( 27411800 )
2016
46
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. ( 27413160 )
2016
47
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. ( 27456866 )
2016
48
Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia. ( 27512936 )
2016
49
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. ( 25674012 )
2015
50
Aspirin-responsive, migraine-like transient cerebral and ocular ischemic attacks and erythromelalgia in JAK2-positive essential thrombocythemia and polycythemia vera. ( 25116182 )
2015

Variations for Erythromelalgia

Expression for Erythromelalgia

Search GEO for disease gene expression data for Erythromelalgia.

Pathways for Erythromelalgia

GO Terms for Erythromelalgia

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

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.96 PF4 PPBP
2 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 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.72 SCN10A SCN9A TRPV3
2 inflammatory response GO:0006954 9.67 PF4 PPBP SCN9A
3 ion transport GO:0006811 9.67 SCN10A SCN4B SCN9A TRPV3
4 ion transmembrane transport GO:0034220 9.63 SCN10A SCN9A TRPV3
5 neutrophil chemotaxis GO:0030593 9.54 PF4 PPBP
6 chemokine-mediated signaling pathway GO:0070098 9.52 PF4 PPBP
7 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.51 PF4 PPBP
8 sensory perception of pain GO:0019233 9.48 SCN10A SCN9A
9 neuronal action potential GO:0019228 9.43 SCN10A SCN9A
10 regulation of ion transmembrane transport GO:0034765 9.43 SCN10A SCN4B SCN9A
11 leukocyte chemotaxis GO:0030595 9.4 PF4 PPBP
12 sodium ion transport GO:0006814 9.33 SCN10A SCN4B SCN9A
13 membrane depolarization during action potential GO:0086010 9.32 SCN10A SCN9A
14 sodium ion transmembrane transport GO:0035725 9.13 SCN10A SCN4B SCN9A
15 AV node cell action potential GO:0086016 8.62 SCN10A SCN4B

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 SCN10A SCN9A TRPV3
2 voltage-gated ion channel activity GO:0005244 9.33 SCN10A SCN4B SCN9A
3 chemokine activity GO:0008009 9.32 PF4 PPBP
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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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