MCID: ERY008
MIFTS: 53

Erythromelalgia

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 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, 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 Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are hypothermia and recurrent respiratory infections

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 32.2 SCN10A SCN4B SCN9A
3 paine syndrome 30.1 SCN10A SCN9A
4 polycythemia vera 30.1 PF4 THBD
5 essential thrombocythemia 30.0 PF4 PPBP THBD
6 scn9a-related inherited erythromelalgia 12.2
7 neuropathy 10.4
8 polycythemia 10.2
9 sodium channelopathy-related small fiber neuropathy 10.1 SCN10A SCN9A
10 indifference to pain, congenital, autosomal recessive 10.1 SCN10A SCN9A
11 purpura 10.1
12 lupus erythematosus 10.1
13 trigeminal neuralgia 10.0 SCN10A SCN9A
14 cervical rib 10.0
15 lichen sclerosus et atrophicus 10.0
16 lichen sclerosus 10.0
17 encephalopathy 10.0
18 blood coagulation disease 10.0 PF4 THBD
19 thrombophilia due to activated protein c resistance 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 sensory peripheral neuropathy 10.0
26 causalgia 10.0
27 axonal neuropathy 10.0
28 long qt syndrome 1 9.9 SCN10A SCN4B
29 mitral valve stenosis 9.9 PF4 PPBP
30 peripheral vascular disease 9.9 PPBP THBD
31 multiple sclerosis 9.8
32 systemic lupus erythematosus 9.8
33 myelofibrosis 9.8
34 fabry disease 9.8
35 leukemia, chronic myeloid 9.8
36 neuropathy, hereditary sensory and autonomic, type v 9.8
37 alcohol abuse 9.8
38 glomerulonephritis 9.8
39 leukemia 9.8
40 thrombocytopenia 9.8
41 hereditary sensory neuropathy 9.8
42 lymphoma 9.8
43 thrombosis 9.8
44 thrombotic thrombocytopenic purpura 9.8
45 hemiplegia 9.8
46 heart disease 9.8
47 hypertensive heart disease 9.8
48 von willebrand's disease 9.8
49 polyneuropathy 9.8
50 panniculitis 9.8

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

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

Publications for Erythromelalgia

Articles related to Erythromelalgia:

(show top 50) (show all 344)
# 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
Bone scan findings in erythromelalgia. ( 30006649 )
2018
9
Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia. ( 30126782 )
2018
10
Current pain management strategies for patients with erythromelalgia: a critical review. ( 30214279 )
2018
11
Erythromelalgia and Peripheral Nerve Block: A Case Report. ( 30285967 )
2018
12
Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. ( 30416015 )
2018
13
How a Simple Ankle Sprain Turned Into Neuropathic Pain: Complex Reflex Sympathetic Dystrophy Versus Erythromelalgia. ( 29121832 )
2017
14
Burning pain: axonal dysfunction in erythromelalgia. ( 28134657 )
2017
15
A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7. ( 28990532 )
2017
16
Erythromelalgia involving the face. ( 28541877 )
2017
17
Erythromelalgia - A dramatic pain of genetic origin, revealing pain mechanisms with implications for neuropathic pain in general. ( 29913718 )
2017
18
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
19
Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in NaV 1.7. ( 28418213 )
2017
20
Erythromelalgia: Identification of a corticosteroid-responsive subset. ( 28413058 )
2017
21
Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation. ( 28490900 )
2017
22
Buerger Test for Erythromelalgia Revisited. ( 28134954 )
2017
23
Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia. ( 28751508 )
2017
24
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. ( 29911575 )
2017
25
Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report. ( 27699862 )
2017
26
Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia. ( 27926760 )
2016
27
The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. ( 27653502 )
2016
28
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. ( 27088781 )
2016
29
Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon I+-2b: A case report and review of the literature. ( 27168811 )
2016
30
Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade. ( 27799815 )
2016
31
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. ( 27099175 )
2016
32
Clinical features and management of erythromelalgia: long term follow-up of 46 cases. ( 27494156 )
2016
33
Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants. ( 27781142 )
2016
34
Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse. ( 26804376 )
2016
35
Erythromelalgia: a Red Neuralgia. ( 27411800 )
2016
36
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. ( 26920677 )
2016
37
Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis. ( 27456866 )
2016
38
Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia. ( 27512936 )
2016
39
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing. ( 27598514 )
2016
40
Pain: Blocking pain in inherited erythromelalgia. ( 27245395 )
2016
41
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. ( 27211852 )
2016
42
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. ( 27413160 )
2016
43
Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations. ( 27158041 )
2016
44
A case of secondary erythromelalgia with perivascular and intramural mucin. ( 25302988 )
2016
45
Erythromelalgia with a linear pattern in a 12-year-old girl. ( 26315201 )
2015
46
Primary erythromelalgia: a review. ( 26419464 )
2015
47
Topically Applied Midodrine, 0.2%, an I+1-Agonist, for the Treatment of Erythromelalgia. ( 25946117 )
2015
48
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. ( 25674012 )
2015
49
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
50
The Complexity of Pain Management in Patients with Erythromelalgia. ( 26528699 )
2015

Variations for Erythromelalgia

ClinVar genetic disease variations for Erythromelalgia:

6 (show all 40)
# 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.721T> A (p.Ser241Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356470 GRCh37 Chromosome 2, 167159780: 167159780
6 SCN9A NM_002977.3(SCN9A): c.721T> A (p.Ser241Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80356470 GRCh38 Chromosome 2, 166303270: 166303270
7 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh37 Chromosome 2, 167083097: 167083097
8 SCN9A NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val) single nucleotide variant Pathogenic rs80356478 GRCh38 Chromosome 2, 166226587: 166226587
9 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh37 Chromosome 2, 167133762: 167133762
10 SCN9A NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe) single nucleotide variant Pathogenic rs80356476 GRCh38 Chromosome 2, 166277252: 166277252
11 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh37 Chromosome 2, 167160789: 167160789
12 SCN9A NM_002977.3(SCN9A): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic rs80356469 GRCh38 Chromosome 2, 166304279: 166304279
13 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
14 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
15 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh37 Chromosome 2, 167145076: 167145076
16 SCN9A NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys) single nucleotide variant Pathogenic rs80356471 GRCh38 Chromosome 2, 166288566: 166288566
17 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh37 Chromosome 2, 167141109: 167141109
18 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh38 Chromosome 2, 166284599: 166284599
19 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh37 Chromosome 2, 167134666: 167134666
20 SCN9A NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg) single nucleotide variant Pathogenic rs80356473 GRCh38 Chromosome 2, 166278156: 166278156
21 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh37 Chromosome 2, 167133747: 167133747
22 SCN9A NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro) single nucleotide variant Pathogenic rs80356477 GRCh38 Chromosome 2, 166277237: 166277237
23 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh37 Chromosome 2, 167099158: 167099158
24 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh38 Chromosome 2, 166242648: 166242648
25 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh37 Chromosome 2, 167163081: 167163081
26 SCN9A NM_002977.3(SCN9A): c.406A> G (p.Ile136Val) single nucleotide variant Pathogenic rs80356468 GRCh38 Chromosome 2, 166306571: 166306571
27 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh37 Chromosome 2, 167160835: 167160835
28 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh38 Chromosome 2, 166304325: 166304325
29 SCN9A NM_002977.3(SCN9A): c.616A> G (p.Asn206Asp) single nucleotide variant Benign rs80356466 GRCh37 Chromosome 2, 167160820: 167160820
30 SCN9A NM_002977.3(SCN9A): c.616A> G (p.Asn206Asp) single nucleotide variant Benign rs80356466 GRCh38 Chromosome 2, 166304310: 166304310
31 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
32 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508
33 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh37 Chromosome 2, 167129256: 167129256
34 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 GRCh38 Chromosome 2, 166272746: 166272746
35 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
36 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
37 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh37 Chromosome 2, 167160752: 167160752
38 SCN9A NM_002977.3(SCN9A): c.684C> G (p.Ile228Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71428908 GRCh38 Chromosome 2, 166304242: 166304242
39 SCN9A NM_002977.3(SCN9A): c.1285C> T (p.Arg429Cys) single nucleotide variant Uncertain significance rs763256222 GRCh37 Chromosome 2, 167144976: 167144976
40 SCN9A NM_002977.3(SCN9A): c.1285C> T (p.Arg429Cys) single nucleotide variant Uncertain significance rs763256222 GRCh38 Chromosome 2, 166288466: 166288466

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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