MCID: ERY008
MIFTS: 51

Erythromelalgia malady

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

Aliases & Classifications for Erythromelalgia

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:9240
ICD10 33 I73.81
ICD9CM 35 443.82
MeSH 42 D004916
NCIt 47 C34593
SNOMED-CT 64 238777005 37151006
Orphanet 56 ORPHA1956
MESH via Orphanet 43 D004916
UMLS via Orphanet 70 C0014804
ICD10 via Orphanet 34 I73.8
UMLS 69 C0014804

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 scn9a-related inherited erythromelalgia and paroxysmal extreme pain disorder, and has symptoms including pruritus, hypothermia and recurrent respiratory infections. An important gene associated with Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Phase 0 - rapid depolarisation and Interaction between L1 and Ankyrins. The drugs Carbamazepine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord.

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 : 71 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 63)
id Related Disease Score Top Affiliating Genes
1 scn9a-related inherited erythromelalgia 12.0
2 paroxysmal extreme pain disorder 11.3
3 erythermalgia, primary 11.3
4 febrile seizures, familial, 3b 10.1 SCN4B SCN9A
5 neuropathy 10.1
6 generalized epilepsy with febrile seizures plus 10.1 SCN4B SCN9A
7 thyroid cancer, anaplastic 10.0 PPBP THBD
8 essential thrombocythemia 9.9
9 neuronitis 9.9
10 burns 9.9
11 polycythemia 9.9
12 erythrocytosis, somatic 9.9 PF4 THBD
13 pain disorder 9.8
14 pregnancy loss, recurrent 1 9.8 PF4 THBD
15 purpura 9.8
16 lupus erythematosus 9.8
17 ocular hyperemia 9.8 PF4 THBD
18 perichondritis of auricle 9.7 PF4 PPBP THBD
19 basilar artery insufficiency 9.7 PF4 PPBP THBD
20 budd-chiari syndrome 9.7 PF4 PPBP THBD
21 olmsted syndrome 9.7
22 diabetic neuropathy 9.7
23 cerebritis 9.7
24 axonal neuropathy 9.7
25 endotheliitis 9.7
26 hypertension, essential 9.7 PF4 PPBP 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 myelofibrosis 9.5
34 thrombocytopenia 9.5
35 hereditary sensory neuropathy 9.5
36 lymphoma 9.5
37 thrombosis 9.5
38 thrombotic thrombocytopenic purpura 9.5
39 hemiplegia 9.5
40 heart disease 9.5
41 hypertensive heart disease 9.5
42 polyneuropathy 9.5
43 panniculitis 9.5
44 renovascular hypertension 9.5
45 vascular disease 9.5
46 thrombocytosis 9.5
47 thrombophilia 9.5
48 causalgia 9.5
49 cellulitis 9.5
50 myopathy 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 (79-30%) HP:0000989
2 hypothermia 56 32 Occasional (29-5%) HP:0002045
3 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
4 peripheral neuropathy 56 32 Very frequent (99-80%) HP:0009830
5 abnormality of thrombocytes 56 32 Occasional (29-5%) HP:0001872
6 erythema 56 32 Very frequent (99-80%) HP:0010783
7 vasculitis 56 32 Occasional (29-5%) HP:0002633
8 leukemia 56 32 Occasional (29-5%) HP:0001909

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 44)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2 Analgesics Phase 4,Phase 2,Phase 1
3 Analgesics, Non-Narcotic Phase 4
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
5 Antimanic Agents Phase 4
6 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
7 Cytochrome P-450 CYP3A Inducers Phase 4
8 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
9 Psychotropic Drugs Phase 4,Phase 2,Phase 1
10 Tranquilizing Agents Phase 4,Phase 2,Phase 1
11
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
12
Pregabalin Approved, Illicit, Investigational Phase 2,Phase 1 148553-50-8 5486971
13 Antibodies Phase 2
14 Immunoglobulins Phase 2
15 Pharmaceutical Solutions Phase 2
16 Anti-Anxiety Agents Phase 2,Phase 1
17 calcium channel blockers Phase 2,Phase 1
18 Calcium, Dietary Phase 2,Phase 1
19 gamma-Globulins Phase 2
20 Immunoglobulins, Intravenous Phase 2
21 Rho(D) Immune Globulin Phase 2
22 Excitatory Amino Acid Antagonists Phase 2
23 Excitatory Amino Acids Phase 2
24 Neurotransmitter Agents Phase 2
25 Glutamic Acid Nutraceutical Phase 2
26
Acetylcholine Approved 51-84-3 187
27
Ethanol Approved 64-17-5 702
28
Capsaicin Approved 404-86-4 1548943
29
Lidocaine Approved, Vet_approved 137-58-6 3676
30
Prilocaine Approved 721-50-6 4906
31
Biotin Approved, Nutraceutical 58-85-5 171548
32
Hydrogen peroxide 7722-84-1 784
33 Immune Sera
34 Immunoglobulin G
35 Paraform
36 Anesthetics
37 Anesthetics, Local
38 Anti-Arrhythmia Agents
39 Antipruritics
40 Dermatologic Agents
41 Diuretics, Potassium Sparing
42 EMLA
43 Sodium Channel Blockers
44 Vitamin B7 Nutraceutical

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations Completed NCT02214615 Phase 4
2 Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber Neuropathy Active, not recruiting NCT01911975 Phase 3
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
4 Evaluation Of The Efficacy And Safety Of Single Doses Of PF-05089771 In Patients With Primary (Inherited) Erythromelalgia Completed NCT01769274 Phase 2
5 Study of XPF-001 in the Treatment of Pain From Primary/Inherited Erythromelalgia (IEM) Completed NCT01090622 Phase 1, Phase 2
6 A Phase 2a Study of BIIB074 in the Treatment of Erythromelalgia Completed NCT02917187 Phase 2
7 Intravenous Immunoglobulin Therapy for Small Fiber Neuropathy Recruiting NCT02637700 Phase 2
8 Efficacy and Safety of Pregabalin in Treatment of Neuropathic Pain in Patients With Idiopathic Small Fiber Neuropathy Recruiting NCT02607254 Phase 2
9 Fycompa in Subjects With Small Fiber Neuropathy (SFN) Active, not recruiting NCT02511873 Phase 2
10 Neuropathic Pain Syndrome Patient Study (MK-0000-072) Completed NCT00570310 Phase 1
11 Small-fiber Neuropathy in Chronic Kidney Disease Unknown status NCT01078857
12 Diabetes Peripheral Neuropathy and Small-fibre Nerve Damage: A Comparative Study Completed NCT01160887
13 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner and QST Recruiting NCT03044340
14 Painful Channelopathies Study Recruiting NCT02696746
15 Dorsal Root Ganglion Stimulation for the Management of Painful Intractable Small Fibre Neuropathy: Recruiting NCT02435004
16 Nutritional Supplementation With Agmatine Sulfate During Small Fiber Neuropathy Recruiting NCT01524666
17 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
18 Autofluorescent Flavoprotein Imaging of Intraepidermal Nerve Fibers: a Pilot Study Enrolling by invitation NCT02537951
19 Spinal Cord Stimulation in Small Fibre Neuropathy Not yet recruiting NCT02905396
20 Evaluation of Pregabalin in Idiopathic Small Fiber Neuropathy Suspended NCT00787462

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

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 316)
id Title Authors Year
1
Burning pain: axonal dysfunction in erythromelalgia. ( 28134657 )
2017
2
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
3
Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7. ( 28418213 )
2017
4
Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation. ( 28490900 )
2017
5
Erythromelalgia: Identification of a corticosteroid-responsive subset. ( 28413058 )
2017
6
Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report. ( 27699862 )
2017
7
Buerger Test for Erythromelalgia Revisited. ( 28134954 )
2017
8
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. ( 27099175 )
2016
9
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. ( 27653502 )
2016
10
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse. ( 26804376 )
2016
11
Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia. ( 27512936 )
2016
12
Clinical features and management of erythromelalgia: long term follow-up of 46 cases. ( 27494156 )
2016
13
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon I+-2b: A case report and review of the literature. ( 27168811 )
2016
14
Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia. ( 27926760 )
2016
15
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. ( 27088781 )
2016
16
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. ( 27211852 )
2016
17
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. ( 27598514 )
2016
18
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. ( 27413160 )
2016
19
Erythromelalgia: a Red Neuralgia. ( 27411800 )
2016
20
Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants. ( 27781142 )
2016
21
Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. ( 27158041 )
2016
22
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. ( 26920677 )
2016
23
Pain: Blocking pain in inherited erythromelalgia. ( 27245395 )
2016
24
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. ( 27456866 )
2016
25
Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade. ( 27799815 )
2016
26
Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7. ( 25575597 )
2015
27
A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China. ( 25820221 )
2015
28
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
29
The Complexity of Pain Management in Patients with Erythromelalgia. ( 26528699 )
2015
30
Primary erythromelalgia: a review. ( 26419464 )
2015
31
Topically Applied Midodrine, 0.2%, an I+1-Agonist, for the Treatment of Erythromelalgia. ( 25946117 )
2015
32
Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. ( 26486037 )
2015
33
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. ( 25674012 )
2015
34
Early detection of an epidemic erythromelalgia outbreak using Baidu search data. ( 26218589 )
2015
35
Dual Effect of Ziconotide in Primary Erythromelalgia. ( 26609309 )
2015
36
Erythromelalgia with a linear pattern in a 12-year-old girl. ( 26315201 )
2015
37
Hansen's disease associated with erythromelalgia mimicking Lupus erythematosus. ( 24616859 )
2014
38
Paroxysmal burning pain caused by erythromelalgia. ( 24814455 )
2014
39
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. ( 24866741 )
2014
40
Subcutaneous panniculitis like T cell lymphoma associated with erythromelalgia. ( 25121382 )
2014
41
Aspirin-Responsive, Migraine-Like Transient Cerebral and Ocular Ischemic Attacks and Erythromelalgia in JAK2-Positive Essential Thrombocythemia and Polycythemia Vera. ( 25116182 )
2014
42
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. ( 24452206 )
2014
43
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. ( 24606194 )
2014
44
Facial erythromelalgia: a rare entity to consider in the differential diagnosis of connective tissue diseases. ( 25454048 )
2014
45
Therapeutic success with local botulinum toxin in erythromelalgia. ( 25247918 )
2014
46
An Egyptian child with erythromelalgia responding to a new line of treatment: a case report and review of the literature. ( 24568362 )
2014
47
Dynamic-clamp Analysis of Wild-type hNaV1.7 and Erythromelalgia Mutant Channel L858H. ( 24401712 )
2014
48
Recurrent Facial Erythema with Burning Sensation and Increased Temperature: A Variant of Erythromelalgia or a New Entity? ( 24433512 )
2014
49
A case of secondary erythromelalgia with perivascular and intramural mucin. ( 25302988 )
2014
50
Localized secondary erythromelalgia in an 11-year-old boy. ( 22612394 )
2013

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.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
8 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh37 Chromosome 2, 167134666: 167134666
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

Pathways related to Erythromelalgia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 SCN4B SCN9A
2 10.1 SCN4B SCN9A

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 8.62 SCN4B SCN9A

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

id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.43 PF4 PPBP SCN9A
2 sodium ion transmembrane transport GO:0035725 9.37 SCN4B SCN9A
3 chemokine-mediated signaling pathway GO:0070098 9.32 PF4 PPBP
4 regulation of postsynaptic membrane potential GO:0060078 9.16 SCN4B SCN9A
5 positive regulation of neutrophil chemotaxis GO:0090023 8.96 PF4 PPBP
6 response to lipopolysaccharide GO:0032496 8.8 PF4 PPBP THBD

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

id Name GO ID Score Top Affiliating Genes
1 chemokine activity GO:0008009 9.16 PF4 PPBP
2 sodium channel activity GO:0005272 8.96 SCN4B SCN9A
3 voltage-gated sodium channel activity GO:0005248 8.62 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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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