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 50 25 56 52 42 14 69
Primary Erythromelalgia 25 29
Primary Erythermalgia 50 69
Familial Erythromelalgia 25
Erythermalgia 25

Characteristics:

Orphanet epidemiological data:

56
erythromelalgia
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

Classifications:



Summaries for Erythromelalgia

NIH Rare Diseases : 50 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 pruritus, abnormality of thrombocytes and leukemia. An important gene associated with Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. The drugs Carbamazepine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and endothelial.

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 : 72 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 68)
id Related Disease Score Top Affiliating Genes
1 paroxysmal extreme pain disorder 32.3 SCN10A SCN9A
2 scn9a-related inherited erythromelalgia 12.0
3 erythermalgia, primary 11.3
4 congenital absence of both lower leg and foot, bilateral 10.3 SCN10A SCN9A
5 benign familial infantile epilepsy 10.2 SCN4B SCN9A
6 acrocephalopolydactylous dysplasia 10.2 SCN10A SCN9A
7 neuropathy 10.1
8 ocular hyperemia 10.1 PF4 THBD
9 thrombophilia due to activated protein c resistance 10.0 PF4 THBD
10 febrile seizures, familial, 3b 10.0 SCN10A SCN9A
11 essential thrombocythemia 9.9
12 neuronitis 9.9
13 thrombocythemia 3 9.9 PF4 THBD
14 burns 9.9
15 polycythemia 9.9
16 pain disorder 9.8
17 thumb stiff brachydactyly mental retardation 9.8 PPBP THBD
18 insensitivity to pain, congenital 9.8 SCN10A SCN4B SCN9A
19 purpura 9.8
20 lupus erythematosus 9.8
21 olmsted syndrome 9.7
22 diabetic neuropathy 9.7
23 cerebritis 9.7
24 axonal neuropathy 9.7
25 endotheliitis 9.7
26 bone remodeling disease 9.6 PF4 THBD
27 systemic lupus erythematosus 9.5
28 fabry disease 9.5
29 reflex sympathetic dystrophy 9.5
30 alcohol abuse 9.5
31 glomerulonephritis 9.5
32 leukemia 9.5
33 thrombocytopenia 9.5
34 lymphoma 9.5
35 thrombosis 9.5
36 thrombotic thrombocytopenic purpura 9.5
37 hemiplegia 9.5
38 heart disease 9.5
39 hypertensive heart disease 9.5
40 polyneuropathy 9.5
41 panniculitis 9.5
42 renovascular hypertension 9.5
43 vascular disease 9.5
44 thrombocytosis 9.5
45 thrombophilia 9.5
46 causalgia 9.5
47 cellulitis 9.5
48 myopathy 9.5
49 demyelinating polyneuropathy 9.5
50 connective tissue disease 9.5

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to Erythromelalgia

Symptoms & Phenotypes for Erythromelalgia

Human phenotypes related to Erythromelalgia:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
2 abnormality of thrombocytes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001872
3 leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001909
4 hypothermia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002045
5 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
6 vasculitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002633
7 peripheral neuropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0009830
8 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783

UMLS symptoms related to Erythromelalgia:


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

Drugs & Therapeutics for Erythromelalgia

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

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

Interventional clinical trials:


id 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 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
4 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2 XPF-001;Placebo
5 A Phase 2a Study of BIIB074 in the Treatment of Erythromelalgia Completed NCT02917187 Phase 2 BIIB074;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:

id Genetic test Affiliating Genes
1 Primary Erythromelalgia 29

Anatomical Context for Erythromelalgia

MalaCards organs/tissues related to Erythromelalgia:

39
Skin, Spinal Cord, Endothelial, Dorsal Root Ganglion, Testes, Brain, Neutrophil

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 318)
id Title Authors Year
1
Burning pain: axonal dysfunction in erythromelalgia. ( 28134657 )
2017
2
Erythromelalgia involving the face. ( 28541877 )
2017
3
Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation. ( 28490900 )
2017
4
Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report. ( 27699862 )
2017
5
Buerger Test for Erythromelalgia Revisited. ( 28134954 )
2017
6
Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7. ( 28418213 )
2017
7
Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia. ( 28751508 )
2017
8
Erythromelalgia: Identification of a corticosteroid-responsive subset. ( 28413058 )
2017
9
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
10
Pain: Blocking pain in inherited erythromelalgia. ( 27245395 )
2016
11
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. ( 27456866 )
2016
12
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. ( 27088781 )
2016
13
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. ( 27413160 )
2016
14
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. ( 26920677 )
2016
15
Clinical features and management of erythromelalgia: long term follow-up of 46 cases. ( 27494156 )
2016
16
Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia. ( 27926760 )
2016
17
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. ( 27653502 )
2016
18
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon I+-2b: A case report and review of the literature. ( 27168811 )
2016
19
Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia. ( 27512936 )
2016
20
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. ( 27598514 )
2016
21
Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. ( 27158041 )
2016
22
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. ( 27211852 )
2016
23
Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants. ( 27781142 )
2016
24
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. ( 27099175 )
2016
25
Erythromelalgia: a Red Neuralgia. ( 27411800 )
2016
26
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse. ( 26804376 )
2016
27
Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade. ( 27799815 )
2016
28
The Complexity of Pain Management in Patients with Erythromelalgia. ( 26528699 )
2015
29
A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China. ( 25820221 )
2015
30
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
31
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. ( 26486037 )
2015
32
Erythromelalgia with a linear pattern in a 12-year-old girl. ( 26315201 )
2015
33
Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7. ( 25575597 )
2015
34
Primary erythromelalgia: a review. ( 26419464 )
2015
35
Early detection of an epidemic erythromelalgia outbreak using Baidu search data. ( 26218589 )
2015
36
Dual Effect of Ziconotide in Primary Erythromelalgia. ( 26609309 )
2015
37
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. ( 25674012 )
2015
38
Topically Applied Midodrine, 0.2%, an I+1-Agonist, for the Treatment of Erythromelalgia. ( 25946117 )
2015
39
Hansen's disease associated with erythromelalgia mimicking Lupus erythematosus. ( 24616859 )
2014
40
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. ( 24452206 )
2014
41
Facial erythromelalgia: a rare entity to consider in the differential diagnosis of connective tissue diseases. ( 25454048 )
2014
42
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. ( 24866741 )
2014
43
An Egyptian child with erythromelalgia responding to a new line of treatment: a case report and review of the literature. ( 24568362 )
2014
44
Dynamic-clamp Analysis of Wild-type hNaV1.7 and Erythromelalgia Mutant Channel L858H. ( 24401712 )
2014
45
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. ( 24606194 )
2014
46
Paroxysmal burning pain caused by erythromelalgia. ( 24814455 )
2014
47
Aspirin-Responsive, Migraine-Like Transient Cerebral and Ocular Ischemic Attacks and Erythromelalgia in JAK2-Positive Essential Thrombocythemia and Polycythemia Vera. ( 25116182 )
2014
48
Subcutaneous panniculitis like T cell lymphoma associated with erythromelalgia. ( 25121382 )
2014
49
A case of secondary erythromelalgia with perivascular and intramural mucin. ( 25302988 )
2014
50
Therapeutic success with local botulinum toxin in erythromelalgia. ( 25247918 )
2014

Variations for Erythromelalgia

ClinVar genetic disease variations for Erythromelalgia:

6
id 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.2543T> C (p.Ile848Thr) single nucleotide variant Pathogenic rs80356474 GRCh37 Chromosome 2, 167133791: 167133791
3 SCN9A NM_002977.3(SCN9A): c.721T> A (p.Ser241Thr) single nucleotide variant Pathogenic rs80356470 GRCh37 Chromosome 2, 167159780: 167159780
4 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
5 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
6 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
7 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh38 Chromosome 2, 166278156: 166278156
8 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
9 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
10 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081

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:

id 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 14)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.71 SCN10A SCN9A TRPV3
2 ion transport GO:0006811 9.71 SCN10A SCN4B SCN9A TRPV3
3 inflammatory response GO:0006954 9.69 PF4 PPBP SCN9A
4 response to lipopolysaccharide GO:0032496 9.54 PF4 PPBP THBD
5 chemokine-mediated signaling pathway GO:0070098 9.52 PF4 PPBP
6 regulation of ion transmembrane transport GO:0034765 9.5 SCN10A SCN4B SCN9A
7 sensory perception of pain GO:0019233 9.49 SCN10A SCN9A
8 neuronal action potential GO:0019228 9.48 SCN10A SCN9A
9 positive regulation of neutrophil chemotaxis GO:0090023 9.46 PF4 PPBP
10 membrane depolarization during action potential GO:0086010 9.43 SCN10A SCN9A
11 sodium ion transport GO:0006814 9.43 SCN10A SCN4B SCN9A
12 sodium ion transmembrane transport GO:0035725 9.33 SCN10A SCN4B SCN9A
13 AV node cell action potential GO:0086016 8.96 SCN10A SCN4B
14 regulation of postsynaptic membrane potential GO:0060078 8.8 SCN10A SCN4B SCN9A

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.33 SCN10A SCN4B SCN9A
2 chemokine activity GO:0008009 9.26 PF4 PPBP
3 sodium channel activity GO:0005272 9.13 SCN10A SCN4B SCN9A
4 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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