MCID: ERY008
MIFTS: 52

Erythromelalgia

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

Aliases & Classifications for Erythromelalgia

MalaCards integrated aliases for Erythromelalgia:

Name: Erythromelalgia 12 76 53 25 59 55 44 15 73
Primary Erythromelalgia 25 29 6
Primary Erythermalgia 53 73
Familial Erythromelalgia 25
Erythermalgia 25

Characteristics:

Orphanet epidemiological data:

59
erythromelalgia
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:9240
ICD10 33 I73.81
ICD9CM 35 443.82
MeSH 44 D004916
NCIt 50 C34593
SNOMED-CT 68 238777005 37151006
Orphanet 59 ORPHA1956
MESH via Orphanet 45 D004916
UMLS via Orphanet 74 C0014804
ICD10 via Orphanet 34 I73.8

Summaries for Erythromelalgia

NIH Rare Diseases : 53 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, diarrhea and pruritus. 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 Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord, and related phenotypes are pruritus and leukemia

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.

Wikipedia : 76 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

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 33.5 SCN10A SCN9A
2 paroxysmal extreme pain disorder 31.7 SCN10A SCN4B SCN9A
3 paine syndrome 30.2 SCN10A SCN9A
4 polycythemia vera 29.2 PF4 THBD
5 essential thrombocythemia 28.8 PF4 PPBP THBD
6 thrombophilia 28.2 PF4 PPBP THBD
7 stroke, ischemic 28.2 PF4 PPBP THBD
8 scn9a-related inherited erythromelalgia 12.0
9 sodium channelopathy-related small fiber neuropathy 10.2 SCN10A SCN9A
10 indifference to pain, congenital, autosomal recessive 10.2 SCN10A SCN9A
11 neuropathy 10.2
12 trigeminal neuralgia 10.1 SCN10A SCN9A
13 neuronitis 10.0
14 burns 10.0
15 polycythemia 10.0
16 blood coagulation disease 10.0 PF4 THBD
17 thrombophilia due to activated protein c resistance 9.9 PF4 THBD
18 purpura 9.9
19 lupus erythematosus 9.9
20 thrombocytopenic purpura, autoimmune 9.8
21 reflex sympathetic dystrophy 9.8
22 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 9.8
23 diabetic neuropathy 9.8
24 algoneurodystrophy 9.8
25 sensory peripheral neuropathy 9.8
26 cerebritis 9.8
27 axonal neuropathy 9.8
28 endotheliitis 9.8
29 multiple sclerosis 9.6
30 systemic lupus erythematosus 9.6
31 myelofibrosis 9.6
32 fabry disease 9.6
33 leukemia, chronic myeloid 9.6
34 neuropathy, hereditary sensory and autonomic, type v 9.6
35 alcohol abuse 9.6
36 glomerulonephritis 9.6
37 leukemia 9.6
38 thrombocytopenia 9.6
39 hereditary sensory neuropathy 9.6
40 lymphoma 9.6
41 thrombosis 9.6
42 thrombotic thrombocytopenic purpura 9.6
43 hemiplegia 9.6
44 heart disease 9.6
45 hypertensive heart disease 9.6
46 von willebrand's disease 9.6
47 polyneuropathy 9.6
48 panniculitis 9.6
49 renovascular hypertension 9.6
50 vascular disease 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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
2 leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001909
3 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
4 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
5 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
6 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
7 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
8 abnormality of thrombocytes 59 Occasional (29-5%)
9 abnormal thrombocyte morphology 32 occasional (7.5%) HP:0001872

UMLS symptoms related to Erythromelalgia:


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

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 Analgesics Phase 4,Phase 3
3 Central Nervous System Depressants Phase 4
4 Analgesics, Non-Narcotic Phase 4,Phase 3
5 Cytochrome P-450 CYP3A Inducers Phase 4
6 Tranquilizing Agents Phase 4
7 Peripheral Nervous System Agents Phase 4,Phase 3
8 Anticonvulsants Phase 4
9 Psychotropic Drugs Phase 4
10 Antimanic Agents Phase 4
11
Hydroxyurea Approved Phase 3 127-07-1 3657
12
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
13 Fibrinolytic Agents Phase 3
14 Cyclooxygenase Inhibitors Phase 3
15 Nucleic Acid Synthesis Inhibitors Phase 3
16 Platelet Aggregation Inhibitors Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Antipyretics Phase 3
19 Anti-Inflammatory Agents, Non-Steroidal Phase 3
20 Antirheumatic Agents Phase 3
21 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

Genetic tests related to Erythromelalgia:

# Genetic test Affiliating Genes
1 Primary Erythromelalgia 29 SCN9A

Anatomical Context for Erythromelalgia

MalaCards organs/tissues related to Erythromelalgia:

41
Skin, Eye, Spinal Cord, Endothelial, Dorsal Root Ganglion, Testes, Brain

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 333)
# Title Authors Year
1
Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report. ( 29624653 )
2018
2
Facial erythromelalgia? ( 29678386 )
2018
3
Erythromelalgia: a cutaneous manifestation of neuropathy? ( 29641704 )
2018
4
Reply to: "Facial erythromelalgia?" ( 29678387 )
2018
5
Secondary erythromelalgia: a tryptophan dietary supplement-induced case associated with elevated 5-hydroxyindoleacetic acid (5HIAA) urinary levels. ( 29152720 )
2018
6
Erythromelalgia. ( 29299961 )
2018
7
Erythromelalgia: improvement in pain with transcranial magnetic stimulation. ( 29524220 )
2018
8
How a Simple Ankle Sprain Turned Into Neuropathic Pain: Complex Reflex Sympathetic Dystrophy Versus Erythromelalgia. ( 29121832 )
2017
9
Burning pain: axonal dysfunction in erythromelalgia. ( 28134657 )
2017
10
A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7. ( 28990532 )
2017
11
Erythromelalgia involving the face. ( 28541877 )
2017
12
Erythromelalgia - A dramatic pain of genetic origin, revealing pain mechanisms with implications for neuropathic pain in general. ( 29913718 )
2017
13
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
14
Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7. ( 28418213 )
2017
15
Erythromelalgia: Identification of a corticosteroid-responsive subset. ( 28413058 )
2017
16
Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation. ( 28490900 )
2017
17
Buerger Test for Erythromelalgia Revisited. ( 28134954 )
2017
18
Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia. ( 28751508 )
2017
19
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. ( 29911575 )
2017
20
Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report. ( 27699862 )
2017
21
Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia. ( 27926760 )
2016
22
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. ( 27653502 )
2016
23
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. ( 27088781 )
2016
24
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon I+-2b: A case report and review of the literature. ( 27168811 )
2016
25
Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade. ( 27799815 )
2016
26
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. ( 27099175 )
2016
27
Clinical features and management of erythromelalgia: long term follow-up of 46 cases. ( 27494156 )
2016
28
Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants. ( 27781142 )
2016
29
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse. ( 26804376 )
2016
30
Erythromelalgia: a Red Neuralgia. ( 27411800 )
2016
31
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. ( 26920677 )
2016
32
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. ( 27456866 )
2016
33
Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia. ( 27512936 )
2016
34
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. ( 27598514 )
2016
35
Pain: Blocking pain in inherited erythromelalgia. ( 27245395 )
2016
36
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. ( 27211852 )
2016
37
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. ( 27413160 )
2016
38
Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. ( 27158041 )
2016
39
Erythromelalgia with a linear pattern in a 12-year-old girl. ( 26315201 )
2015
40
Primary erythromelalgia: a review. ( 26419464 )
2015
41
Topically Applied Midodrine, 0.2%, an I+1-Agonist, for the Treatment of Erythromelalgia. ( 25946117 )
2015
42
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. ( 25674012 )
2015
43
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
44
The Complexity of Pain Management in Patients with Erythromelalgia. ( 26528699 )
2015
45
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. ( 26486037 )
2015
46
A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China. ( 25820221 )
2015
47
Early detection of an epidemic erythromelalgia outbreak using Baidu search data. ( 26218589 )
2015
48
Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7. ( 25575597 )
2015
49
Dual Effect of Ziconotide in Primary Erythromelalgia. ( 26609309 )
2015
50
Facial erythromelalgia: a rare entity to consider in the differential diagnosis of connective tissue diseases. ( 25454048 )
2014

Variations for Erythromelalgia

ClinVar genetic disease variations for Erythromelalgia:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh37 Chromosome 2, 167133761: 167133761
2 SCN9A NM_002977.3(SCN9A): c.2573T> A (p.Leu858His) single nucleotide variant Pathogenic rs80356475 GRCh38 Chromosome 2, 166277251: 166277251
3 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh37 Chromosome 2, 167133791: 167133791
4 SCN9A NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh38 Chromosome 2, 166277281: 166277281
5 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
6 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh38 Chromosome 2, 166226587: 166226587
7 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
8 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh38 Chromosome 2, 166277252: 166277252
9 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
10 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh38 Chromosome 2, 166304279: 166304279
11 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
12 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh38 Chromosome 2, 166288566: 166288566
13 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh37 Chromosome 2, 167134666: 167134666
14 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh38 Chromosome 2, 166278156: 166278156
15 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
16 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh38 Chromosome 2, 166277237: 166277237
17 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081
18 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh38 Chromosome 2, 166306571: 166306571
19 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
20 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
21 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
22 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242

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 13)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.69 PF4 PPBP SCN9A
2 ion transport GO:0006811 9.62 SCN10A SCN4B SCN9A TRPV3
3 response to lipopolysaccharide GO:0032496 9.54 PF4 PPBP THBD
4 chemokine-mediated signaling pathway GO:0070098 9.52 PF4 PPBP
5 sensory perception of pain GO:0019233 9.49 SCN10A SCN9A
6 positive regulation of neutrophil chemotaxis GO:0090023 9.48 PF4 PPBP
7 membrane depolarization during action potential GO:0086010 9.46 SCN10A SCN9A
8 neuronal action potential GO:0019228 9.43 SCN10A SCN9A
9 regulation of ion transmembrane transport GO:0034765 9.43 SCN10A SCN4B SCN9A
10 positive regulation of leukocyte chemotaxis GO:0002690 9.4 PF4 PPBP
11 sodium ion transport GO:0006814 9.33 SCN10A SCN4B SCN9A
12 sodium ion transmembrane transport GO:0035725 9.13 SCN10A SCN4B SCN9A
13 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 9.5 SCN10A SCN9A TRPV3
2 voltage-gated ion channel activity GO:0005244 9.43 SCN10A SCN4B SCN9A
3 chemokine activity GO:0008009 9.4 PF4 PPBP
4 CXCR chemokine receptor binding GO:0045236 9.37 PF4 PPBP
5 cation channel activity GO:0005261 9.33 SCN10A SCN9A TRPV3
6 sodium channel activity GO:0005272 9.13 SCN10A SCN4B SCN9A
7 voltage-gated sodium channel activity GO:0005248 8.8 SCN10A SCN4B SCN9A

Sources for Erythromelalgia

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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