MCID: ERY008
MIFTS: 50

Erythromelalgia

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

Aliases & Classifications for Erythromelalgia

MalaCards integrated aliases for Erythromelalgia:

Name: Erythromelalgia 12 73 20 43 54 6 44 15 70
Erythermalgia 12 73 43
Primary Erythromelalgia 20 43
Primary Erythermalgia 20 70
Familial Erythromelalgia 43

Classifications:



External Ids:

Disease Ontology 12 DOID:9240
ICD9CM 34 443.82
MeSH 44 D004916
NCIt 50 C34593
SNOMED-CT 67 238777005
ICD10 32 I73.81
UMLS 70 C0014804 C0014805

Summaries for Erythromelalgia

MedlinePlus Genetics : 43 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 essential thrombocythemia, and has symptoms including constipation, myalgia and pruritus. 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 Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, heart and eye, and related phenotypes are behavior/neurological and nervous system

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

GARD : 20 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 : 73 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:

Secondary Erythromelalgia

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 erythermalgia, primary 32.8 SCN9A SCN1A-AS1 SCN11A SCN10A
2 essential thrombocythemia 31.6 U2AF1 THBD PPBP PF4
3 sodium channelopathy-related small fiber neuropathy 30.5 SCN9A SCN1A-AS1 SCN11A SCN10A
4 causalgia 30.4 SCN9A SCN11A SCN10A
5 generalized epilepsy with febrile seizures plus, type 7 30.3 SCN9A SCN8A SCN1A-AS1 SCN1A
6 peripheral vascular disease 30.1 THBD PPBP PF4
7 paroxysmal extreme pain disorder 29.9 SCN9A SCN8A SCN5A SCN4B SCN4A SCN3A
8 thrombophilia 29.8 THBD PPBP PF4
9 paine syndrome 29.7 SCN9A SCN8A SCN4A SCN3A SCN1A SCN11A
10 peripheral nervous system disease 29.7 U2AF1 SCN9A SCN8A SCN4A SCN11A SCN10A
11 febrile seizures 29.5 SCN9A SCN8A SCN2A SCN1A-AS1 SCN1A
12 episodic ataxia 29.4 SCN8A SCN4A SCN2A SCN1A
13 trigeminal neuralgia 29.1 SCN9A SCN8A SCN4A SCN3A SCN1A SCN11A
14 migraine with or without aura 1 28.5 TRPV3 SCN9A SCN8A SCN4A SCN3A SCN2A
15 generalized epilepsy with febrile seizures plus 28.1 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
16 secondary erythromelalgia 11.1
17 polycythemia 10.4
18 polycythemia vera 10.4
19 fourth cranial nerve palsy 10.4 PPBP PF4
20 endocervicitis 10.4 PPBP PF4
21 raynaud phenomenon 10.4
22 neuropathy 10.3
23 thrombocytosis 10.3
24 qualitative platelet defect 10.3 U2AF1 PF4
25 chronic pain 10.3
26 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN7A SCN1A
27 myoclonic epilepsy of infancy 10.2 SCN8A SCN1A
28 normokalemic periodic paralysis 10.2 SCN7A SCN4A
29 hypokalemic periodic paralysis, type 2 10.2 SCN7A SCN4A
30 generalized epilepsy with febrile seizures plus, type 2 10.2 SCN9A SCN1A SCN11A
31 indifference to pain, congenital, autosomal recessive 10.2 SCN9A SCN1A-AS1 SCN11A SCN10A
32 epilepsy, familial temporal lobe, 5 10.2 SCN9A SCN1A
33 polyneuropathy 10.2
34 scn9a neuropathic pain syndromes 10.2
35 familial episodic pain syndrome 10.2 TRPV3 SCN9A SCN11A SCN10A
36 febrile seizures, familial, 5 10.2 SCN2A SCN1A
37 reflex epilepsy 10.2 SCN2A SCN1A
38 febrile seizures, familial, 2 10.2 SCN2A SCN1A
39 episodic pain syndrome, familial, 2 10.2 SCN9A SCN3A SCN11A SCN10A
40 genetic epilepsy with febrile seizures plus 10.1 SCN9A SCN2A SCN1A
41 long qt syndrome 12 10.1 SCN5A SCN4B
42 stroke, ischemic 10.1 THBD PPBP PF4 GLA
43 early onset absence epilepsy 10.1 SCN2A SCN1A
44 long qt syndrome 10 10.1 SCN5A SCN4B
45 neuropathy, hereditary sensory and autonomic, type vii 10.1 SCN4A SCN3A SCN11A
46 coffin-siris syndrome 4 10.1 SCN9A SCN8A SCN2A
47 long qt syndrome 13 10.1 SCN5A SCN4B
48 splenic sequestration 10.1 U2AF1 SCN2A
49 blood platelet disease 10.1 U2AF1 THBD PPBP PF4
50 blood coagulation disease 10.1 U2AF1 THBD PPBP PF4

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to Erythromelalgia

Symptoms & Phenotypes for Erythromelalgia

UMLS symptoms related to Erythromelalgia:


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

MGI Mouse Phenotypes related to Erythromelalgia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 GLA NMNAT2 SCN10A SCN11A SCN1A SCN2A
2 nervous system MP:0003631 9.7 GLA NMNAT2 SCN10A SCN11A SCN1A SCN2A
3 respiratory system MP:0005388 9.23 NMNAT2 SCN10A SCN1A SCN2A SCN4A SCN5A

Drugs & Therapeutics for Erythromelalgia

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2 Psychotropic Drugs Phase 4
3 Sodium Channel Blockers Phase 4
4 Anticonvulsants Phase 4
5 Diuretics, Potassium Sparing Phase 4
6 Analgesics Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# 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 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
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 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
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 Vascular and Neurologic Exploration of Small Nervous Fiber by Sudoscanner Completed NCT03044340
7 Spinal Cord Stimulation for Refractory Pain in Erythromelalgia Recruiting NCT04039633
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:

40
Spinal Cord, Heart, Eye, Dorsal Root Ganglion, Endothelial, Adrenal Gland, Temporal Lobe

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 718)
# Title Authors PMID Year
1
Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. 54 61 6
16216943 2005
2
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. 6 61 54
15385606 2004
3
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 61 6 54
14985375 2004
4
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T. 6 61
28658526 2018
5
Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. 6 61
16988069 2006
6
Inherited erythermalgia moves a sodium channel into focus. 6 61
17101882 2006
7
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 61 6
16702558 2006
8
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 61 6
16392115 2006
9
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. 61 6
15958509 2005
10
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. 6 61
15955112 2005
11
Autosomal dominant erythromelalgia. 6 61
1536168 1992
12
Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics. 6
30702961 2019
13
Review of primary and secondary erythromelalgia. 61 20
30609105 2019
14
Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation. 6
29379075 2018
15
Familial pain syndromes from mutations of the NaV1.7 sodium channel. 54 61
20146699 2010
16
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. 61 54
19549232 2009
17
A sodium channel gene SCN9A polymorphism that increases nociceptor excitability. 61 54
20033988 2009
18
Voltage-gated sodium channels: therapeutic targets for pain. 61 54
19818036 2009
19
[Primary erythermalgia: efficacy of oxcarbazepine]. 54 61
19361700 2009
20
Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A. 54 61
18347287 2008
21
Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7. 54 61
17239250 2007
22
[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene]. 54 61
16471234 2006
23
Treatment of symptomatic patients with essential thrombocythemia: effectiveness of anagrelide. 61 54
16138352 2005
24
Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain. 61 54
15314237 2004
25
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
26
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. 54 61
8883266 1996
27
Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect. 61
33487118 2021
28
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene. 61
33688580 2021
29
Population Pharmacokinetics of Vixotrigine in Healthy Volunteers and Subjects with Trigeminal Neuralgia, Painful Lumbosacral Radiculopathy and Erythromelalgia. 61
33782834 2021
30
Acral vascular syndrome Lennert type T cell lymphoma-a case report. 61
33661406 2021
31
Simvastatin-induced erythromelalgia: less is more. 61
31291834 2021
32
Painful, reappearing eruption in a medically complex 4-year-old. 61
33602765 2021
33
Acute dysautonomia and erythromelalgia associated with testicular seminoma: A case report. 61
32631673 2021
34
Dorsal Root Ganglion Stimulation for Erythromelalgia Related Foot Pain: A Case Report and Review of the Literature. 61
33508884 2021
35
Combination gel of 2% amitriptyline and 0.5% ketamine to treat refractory erythromelalgia pain - a case report of pain control success. 61
33358428 2020
36
Secondary Erythromelalgia - Case Report. 61
32628924 2020
37
Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity. 61
33361158 2020
38
Three Cases of Food Poisoning Due to Paralepistopsis acromelalga Diagnosed from an Outbreak of Erythromelalgia. 61
33361671 2020
39
Remission of Pain From Frostbite and Erythromelalgia With Epidural Infusion of Ropivacaine: Results of a Two-Year Follow-Up. 61
33316170 2020
40
Successful ultrasound-guided stellate ganglion block treatment in a patient with upper limb erythromelalgia. 61
33107104 2020
41
Drug repurposing in Raynaud's phenomenon through adverse event signature matching in the World Health Organization pharmacovigilance database. 61
32337731 2020
42
Uncoupling sodium channel dimers restores the phenotype of a pain-linked Nav 1.7 channel mutation. 61
32663327 2020
43
Spinal Cord Stimulation in the Treatment of Pediatric Erythromelalgia. 61
32652278 2020
44
Autoimmune progesterone dermatitis mimicking facial erythromelalgia successfully treated with hysterectomy and bilateral salpingo-oophorectomy. 61
33005715 2020
45
Extensive Lumbar Sympathetic Ganglion Block Combined With Epidural Block for Primary Erythromelalgia: A Case Report. 61
33031105 2020
46
Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy. 61
32723684 2020
47
Heterogeneous presentation of caspr2 antibody-associated peripheral neuropathy - A case series. 61
32279412 2020
48
Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents. 61
32133669 2020
49
Red scrotum syndrome: An update on clinicopathologic features, pathogenesis, diagnosis, and management. 61
32497688 2020
50
[Acrosyndromes (Raynaud's phenomenon, erythermalgia, acrocyanosis, frostbite, digital]. 61
33058653 2020

Variations for Erythromelalgia

ClinVar genetic disease variations for Erythromelalgia:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) SNV Pathogenic 6352 rs80356478 GRCh37: 2:167083097-167083097
GRCh38: 2:166226587-166226587
2 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) SNV Pathogenic 6364 rs80356476 GRCh37: 2:167133762-167133762
GRCh38: 2:166277252-166277252
3 SCN9A NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser) SNV Pathogenic 6365 rs80356469 GRCh37: 2:167160789-167160789
GRCh38: 2:166304279-166304279
4 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys) SNV Pathogenic 21343 rs80356471 GRCh37: 2:167145076-167145076
GRCh38: 2:166288566-166288566
5 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg) SNV Pathogenic 21345 rs80356473 GRCh37: 2:167134666-167134666
GRCh38: 2:166278156-166278156
6 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro) SNV Pathogenic 21346 rs80356477 GRCh37: 2:167133747-167133747
GRCh38: 2:166277237-166277237
7 SCN9A NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val) SNV Pathogenic 21348 rs80356468 GRCh37: 2:167163081-167163081
GRCh38: 2:166306571-166306571
8 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) SNV Pathogenic 6349 rs80356475 GRCh37: 2:167133761-167133761
GRCh38: 2:166277251-166277251
9 SCN9A NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr) SNV Pathogenic 915877 GRCh37: 2:167159800-167159800
GRCh38: 2:166303290-166303290
10 SCN9A NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) SNV Conflicting interpretations of pathogenicity 6351 rs80356470 GRCh37: 2:167159780-167159780
GRCh38: 2:166303270-166303270
11 SCN9A NM_001365536.1(SCN9A):c.616A>G (p.Asn206Asp) SNV Benign 21350 rs80356466 GRCh37: 2:167160820-167160820
GRCh38: 2:166304310-166304310

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
13.47 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
2
Show member pathways
13.41 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
3
Show member pathways
12.87 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
4
Show member pathways
12.65 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
5 12.6 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A
6
Show member pathways
12.58 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
7
Show member pathways
11.79 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
8
Show member pathways
11.77 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
9
Show member pathways
11.75 SCN9A SCN3A SCN2A
10 10.84 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 10.27 TRPV3 THBD SCN9A SCN8A SCN7A SCN5A
2 plasma membrane GO:0005886 10.22 TRPV3 THBD SCN9A SCN8A SCN7A SCN5A
3 Z disc GO:0030018 9.65 SCN8A SCN5A SCN1A
4 axon GO:0030424 9.65 SCN9A SCN8A SCN7A SCN4A SCN3A SCN2A
5 T-tubule GO:0030315 9.54 SCN5A SCN2A SCN1A
6 axon initial segment GO:0043194 9.5 SCN8A SCN1A NAV1
7 intercalated disc GO:0014704 9.46 SCN5A SCN4B SCN2A SCN1A
8 sodium channel complex GO:0034706 9.43 SCN2A SCN1A
9 node of Ranvier GO:0033268 9.43 SCN8A SCN2A SCN1A
10 voltage-gated sodium channel complex GO:0001518 9.36 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 10.18 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4B
2 transmembrane transport GO:0055085 10.17 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A
3 ion transmembrane transport GO:0034220 10.11 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN3A
4 membrane depolarization during action potential GO:0086010 10.02 SCN9A SCN8A SCN7A SCN5A SCN4A SCN3A
5 cation transmembrane transport GO:0098655 9.97 SCN9A SCN8A SCN7A SCN5A SCN3A SCN2A
6 neuronal action potential GO:0019228 9.96 SCN9A SCN8A SCN7A SCN5A SCN4A SCN3A
7 sodium ion transmembrane transport GO:0035725 9.9 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
8 regulation of ion transmembrane transport GO:0034765 9.7 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.67 SCN5A SCN4B SCN1A
10 AV node cell action potential GO:0086016 9.65 SCN5A SCN4B SCN10A
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.56 SCN5A SCN4B
12 positive regulation of sodium ion transport GO:0010765 9.55 SCN5A SCN4B
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.54 SCN5A SCN4B
14 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.52 SCN5A SCN10A
15 bundle of His cell action potential GO:0086043 9.51 SCN5A SCN10A
16 sodium ion transport GO:0006814 9.36 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 10.06 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
2 cation channel activity GO:0005261 10 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A
3 voltage-gated sodium channel activity GO:0005248 9.9 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
4 voltage-gated ion channel activity GO:0005244 9.7 SCN9A SCN8A SCN7A SCN5A SCN4B SCN4A
5 ion channel binding GO:0044325 9.61 SCN5A SCN4B SCN10A
6 CXCR chemokine receptor binding GO:0045236 9.4 PPBP PF4
7 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN5A SCN4B
8 ion channel activity GO:0005216 9.36 TRPV3 SCN9A SCN8A SCN7A SCN5A SCN4A

Sources for Erythromelalgia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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