MCID: ERY008
MIFTS: 64

Erythromelalgia malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Erythromelalgia

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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: 12/11/2013

MalaCards based summary: Erythromelalgia, also known as primary erythermalgia, is related to paroxysmal extreme pain disorder and polycythemia vera, and has symptoms including erythema/erythematous lesions/erythroderma/polymorphous erythema, peripheral neuropathy and autosomal dominant inheritance. An important gene associated with Erythromelalgia is SCN9A (sodium channel, voltage-gated, type IX, alpha subunit), and among its related pathways are Synaptic transmission ion currents and CXCR3-mediated signaling events. The compounds bc-iii and atx-ii have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related mouse phenotypes are integument and behavior/neurological.

Genetics Home Reference:21 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:65 Erythromelalgia, formerly known as Mitchell\'s disease (after Silas Weir Mitchell), acromelalgia, red... more...

Descriptions from OMIM:46 133020,615551

Aliases & Classifications for Erythromelalgia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 27ICD9CM, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Erythromelalgia, Aliases & Descriptions:

Name: Erythromelalgia 8 42 21 10 44 48 62
Primary Erythermalgia 42 48 62
Familial Erythromelalgia 21 62
Primary Erythromelalgia 21 62
 
Mitchell Disease 42 62
Sodium Channelopathy-Related Small Fiber Neuropathy 48
Erythermalgia, Primary 46
Erythermalgia 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
erythromelalgia:
Inheritance: Autosomal dominant; Age of onset: Childhood
sodium channelopathy-related small fiber neuropathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000
primary erythermalgia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:9240
MeSH34 D004916
ICD9CM27 443.82
NCIt39 C34593
SNOMED-CT57 37151006, 238777005
MESH via Orphanet35 D004916
ICD10 via Orphanet26 I73.8
UMLS via Orphanet63 C0014804

Related Diseases for Erythromelalgia

About this section

Diseases in the Erythromelalgia family:

Scn9a-Related Inherited Erythromelalgia

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal extreme pain disorder31.2SCN9A
2polycythemia vera30.6PF4, THBD
3pain disorder30.6SCN3A, SCN9A, SCN8A
4vascular disease30.4PF4, THBD
5thrombophilia30.3THBD, PPBP, PF4
6thrombocytosis30.3THBD, PF4, PPBP
7thrombocytopenia30.0THBD, PF4, RAF1, PPBP
8peripheral vascular disease10.5PPBP
9timothy syndrome10.5SCN4B
10neuropathy10.4
11mitral valve stenosis10.4PPBP, PF4
12thrombotic thrombocytopenic purpura, acquired10.4THBD, PPBP
13adult respiratory distress syndrome10.3THBD, PPBP
14dravet syndrome10.3SCN8A, SCN3A
15hemorrhagic disease10.3PF4, THBD, PPBP
16hemorrhagic thrombocythemia10.3PPBP, PF4, THBD
17essential thrombocythemia10.3
18stroke, ischemic10.3PPBP, PF4, THBD
19epilepsy with generalized tonic-clonic seizures10.3SCN3A, SCN8A
20disseminated intravascular coagulation10.3PF4, THBD, PPBP
21bone marrow cancer10.3PF4, THBD, PPBP
22antiphospholipid syndrome10.3PF4, THBD
23congenital heart disease10.3PF4, THBD, PPBP
24acute myocardial infarction10.3PPBP, THBD, PF4
25systemic scleroderma10.3PPBP, PF4, THBD
26essential hypertension10.3THBD, PF4, PPBP
27brugada syndrome10.3SCN8A, SCN4B
28hypertension10.2
29neuronitis10.2
30scn9a-related inherited erythromelalgia10.2
31venous thrombosis10.2PF4, THBD
32factor v leiden thrombophilia10.2PF4, THBD, PPBP
33coronary artery anomaly10.2PPBP, PF4, THBD
34chronic kidney failure10.2PF4, THBD, PPBP
35idiopathic generalized epilepsy10.2SCN8A, SCN3A
36thromboembolism10.2PF4, THBD
37burns10.2
38lupus erythematosus10.2
39polycythemia10.2
40purpura10.2
41acute erythroid leukemia10.2PF4, PPBP, RAF1
42long qt syndrome10.2SCN4B, SCN8A, SCN3A
43cerebrovascular disease10.1PF4, PPBP, THBD
44sickle cell disease10.1PF4, PPBP
45diabetic neuropathy10.1
46cerebritis10.1
47olmsted syndrome10.1
48small fiber neuropathy10.1
49blindness10.1
50endotheliitis10.1

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to erythromelalgia

Symptoms for Erythromelalgia

About this section

Symptoms by clinical synopsis from OMIM:

133020

Clinical features from OMIM:

133020,615551

Symptoms:

48 (show all 11)
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • peripheral neuropathy
  • autosomal dominant inheritance
  • pruritus/itching
  • repeat respiratory infections
  • vascularitis/vasculitides/arteritis
  • acute ischemic syndrome
  • acute ischemia of the lower limbs
  • platelet disorders/thrombopathies
  • myeloproliferative syndrome/chronic leukemia
  • hypothermia

HPO human phenotypes related to Erythromelalgia:

(show all 18)
id Description Frequency HPO Source Accession
1 peripheral neuropathy hallmark (90%) HP:0009830
2 pruritus typical (50%) HP:0000989
3 abnormality of thrombocytes occasional (7.5%) HP:0001872
4 leukemia occasional (7.5%) HP:0001909
5 hypothermia occasional (7.5%) HP:0002045
6 recurrent respiratory infections occasional (7.5%) HP:0002205
7 vasculitis occasional (7.5%) HP:0002633
8 autosomal dominant inheritance HP:0000006
9 xerostomia HP:0000217
10 blurred vision HP:0000622
11 hyperhidrosis HP:0000975
12 palpitations HP:0001962
13 diarrhea HP:0002014
14 constipation HP:0002019
15 abnormality of the musculature HP:0003011
16 myalgia HP:0003326
17 juvenile onset HP:0003621
18 pain HP:0012531

Drugs & Therapeutics for Erythromelalgia

About this section

Drug clinical trials:

Search ClinicalTrials for Erythromelalgia

Search NIH Clinical Center for Erythromelalgia

Genetic Tests for Erythromelalgia

About this section

Anatomical Context for Erythromelalgia

About this section

MalaCards organs/tissues related to Erythromelalgia:

32
Skin, Brain, Spinal cord, Endothelial, Dorsal root ganglion, Heart, Breast, Testes, T cells, Neutrophil

Animal Models for Erythromelalgia or affiliated genes

About this section

MGI Mouse Phenotypes related to Erythromelalgia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4THBD, SCN10A, SCN9A, SCN11A, FZD6, RAF1
2MP:00053868.0SCN10A, SCN9A, SCN3A, SCN11A, PSMC4, RAF1
3MP:00036317.7RAF1, THBD, SCN8A, SCN10A, SCN9A, SCN11A

Publications for Erythromelalgia

About this section

Articles related to Erythromelalgia:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
Paroxysmal burning pain caused by erythromelalgia. (24814455)
2014
2
Recurrent Facial Erythema with Burning Sensation and Increased Temperature: A Variant of Erythromelalgia or a New Entity? (24433512)
2014
3
Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. (23762561)
2013
4
Localized secondary erythromelalgia in an 11-year-old boy. (22612394)
2013
5
Immersion foot associated with the overuse of ice, cold water, and fans: a distinctive clinical presentation complicating the syndrome of erythromelalgia. (23768296)
2013
6
Primary erythromelalgia with severe ulcers and successful ulcer treatment with sorbalgon. (22134130)
2012
7
Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period. (21798623)
2012
8
Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling. (22365309)
2012
9
Erythromelalgia presenting after neurosurgical intervention in a patient with multiple malformations of the spinal cord. (21920230)
2011
10
Primary erythromelalgia with leukonychia combined with ulcerations and infection by Monilia guilliermondii. (21421200)
2011
11
Massage therapy techniques as pain management for erythromelalgia: a case report. (21589683)
2010
12
A case of erythromelalgia: good response to treatment with gabapentin. (20480803)
2010
13
Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy. (19481586)
2010
14
Erythromelalgia accompanying rosuvastatin-associated myopathy. (21886718)
2009
15
Late-onset erythromelalgia in a previously healthy young woman: a case report and review of the literature. (19946584)
2009
16
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. (19557861)
2009
17
Red ear syndrome and auricular erythromelalgia: the same condition? (19489849)
2009
18
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
19
Thermoregulatory sweat testing in patients with erythromelalgia. (17178984)
2006
20
The use of regional anaesthetic blockade in a child with recurrent erythromelalgia. (12495966)
2003
21
Sympathetic skin response (SSR) in erythromelalgia. (12712804)
2003
22
Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside. (12193436)
2002
23
Lidocaine patch for pain of erythromelalgia. (11790162)
2002
24
Hot feet: erythromelalgia and related disorders. (11305688)
2001
25
Erythromelalgia: new theories and new therapies. (11050591)
2000
26
Impaired skin vasomotor reflexes in patients with erythromelalgia. (10209083)
1999
27
Neurophysiologic and vascular studies in erythromelalgia: a retrospective analysis. (19078553)
1999
28
Adenosine for pain relief in a patient with intractable secondary erythromelalgia. (15102395)
1997
29
Erythromelalgia pain managed with gabapentin. (9105243)
1997
30
Erythromelalgia: a clinical study of 87 cases. (9350163)
1997
31
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. (8883266)
1996
32
Erythromelalgia responding to aspirin. (20948053)
1996
33
Treatment of primary erythromelalgia with cyproheptadine. (8740669)
1996
34
Refractory idiopathic erythromelalgia. (8610879)
1996
35
Erythromelalgia and erythermalgia: lumpers and splitters. (8056472)
1994
36
Erythromelalgia and erythermalgia: diagnostic differentiation. (8056469)
1994
37
Erythromelalgia: association with hereditary sensory neuropathy and response to amitriptyline. (8451013)
1993
38
Erythermalgia, erythromelalgia, or both? Conditions neglected by rheumatologists. (8441137)
1993
39
Erythromelalgia in a patient with systemic lupus erythematosus treated with clonazepam. (2313664)
1990
40
Erythromelalgia. (2242945)
1990
41
Three types of erythromelalgia. (2078240)
1990
42
Erythromelalgia versus erythermalgia. (1973503)
1990
43
Erythromelalgia and myeloproliferative disorders. (2643412)
1989
44
Thrombocythaemic erythromelalgia in chronic myeloproliferative and myelodysplastic disorders. (2779694)
1989
45
Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. (3977194)
1985
46
Nifedipine and erythromelalgia. (6614705)
1983
47
Erythromelalgia. (535232)
1979
48
Erythromelalgia--a case for biofeedback. (252715)
1978
49
ERYTHROMELALGIA. (14124085)
1964
50
Case of (?) Erythromelalgia: for Diagnosis. (19985941)
1927

Variations for Erythromelalgia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Erythromelalgia:

64
id Symbol AA change Variation ID SNP ID
1SCN9Ap.Ile859ThrVAR_019947
2SCN9Ap.Leu869HisVAR_019948
3SCN9Ap.Ser241ThrVAR_032014
4SCN9Ap.Phe1460ValVAR_032019
5SCN9Ap.Gln10ArgVAR_064595
6SCN9Ap.Phe216SerVAR_064598
7SCN9Ap.Asn395LysVAR_064600
8SCN9Ap.Glu406LysVAR_064601
9SCN9Ap.Leu869PheVAR_064609

Clinvar genetic disease variations for Erythromelalgia:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1NM_002977.3(SCN9A): c.1185C> A (p.Asn395Lys)single nucleotide variantPathogenicrs80356471GRCh37Chr 2, 167145076: 167145076
2NM_002977.3(SCN9A): c.2468T> G (p.Leu823Arg)single nucleotide variantPathogenicrs80356473GRCh37Chr 2, 167134666: 167134666
3NM_002977.3(SCN9A): c.2587G> C (p.Ala863Pro)single nucleotide variantPathogenicrs80356477GRCh37Chr 2, 167133747: 167133747
4SCN9ANM_002977.3(SCN9A): c.406A> G (p.Ile136Val)single nucleotide variantPathogenicrs80356468GRCh37Chr 2, 167163081: 167163081
5NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)single nucleotide variantLikely pathogenicrs200945460GRCh37Chr 2, 167137018: 167137018
6NM_002977.3(SCN9A): c.1867G> A (p.Asp623Asn)single nucleotide variantPathogenicrs200398202GRCh37Chr 2, 167141070: 167141070
7NM_002977.3(SCN9A): c.2573T> A (p.Leu858His)single nucleotide variantPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
8NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)single nucleotide variantPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
9SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)single nucleotide variantPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
10NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)single nucleotide variantPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
11NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)single nucleotide variantPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
12SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)single nucleotide variantPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
13SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)single nucleotide variantPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238
14SCN10ANM_006514.2(SCN10A): c.1661T> C (p.Leu554Pro)single nucleotide variantPathogenicrs138404783GRCh37Chr 3, 38793804: 38793804
15SCN10ANM_006514.2(SCN10A): c.3910G> A (p.Ala1304Thr)single nucleotide variantPathogenicrs142173735GRCh38Chr 3, 38712340: 38712340

Expression for genes affiliated with Erythromelalgia

About this section
Expression patterns in normal tissues for genes affiliated with Erythromelalgia

Search GEO for disease gene expression data for Erythromelalgia.

Pathways for genes affiliated with Erythromelalgia

About this section

Pathways related to Erythromelalgia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SCN10A, SCN9A, SCN11A
29.6PF4, RAF1
3
Show member pathways
9.5PF4, THBD
4
Show member pathways
9.1RAF1, PF4, PPBP
5
Show member pathways
8.9RAF1, PSMC4, FZD6, PPBP
6
Show member pathways
8.7SCN8A, SCN10A, SCN9A, SCN3A, SCN11A
7
Show member pathways
8.7PPBP, THBD, PF4, RAF1
8
Show member pathways
8.6RAF1, PSMC4, PF4, PPBP
98.5SCN8A, SCN9A, SCN7A, SCN3A
10
Show member pathways
8.3RAF1, SCN3A, SCN7A, SCN9A, SCN8A
11
Show member pathways
7.3RAF1, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A
12
Show member pathways
7.3SCN8A, SCN10A, SCN9A, SCN4B, SCN7A, SCN3A
13
Show member pathways
6.8PPBP, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

Compounds for genes affiliated with Erythromelalgia

About this section

Compounds related to Erythromelalgia according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1bc-iii2810.0SCN8A, SCN3A
2atx-ii2810.0SCN8A, SCN3A
3aft-ii2810.0SCN8A, SCN3A
4lidocaine44 28 1111.9SCN10A, SCN9A
5fibrinopeptide a449.9PF4, THBD
6fondaparinux449.9THBD, PF4
7saxitoxin289.8SCN3A, SCN9A, SCN8A
8ppbp449.7PPBP, PF4
9cilostazol44 1110.7PF4, THBD
10cellulose triacetate449.7PPBP, PF4
11gamma-carboxyglutamic acid449.7THBD, PF4
12desmopressin44 61 28 1112.7THBD, PPBP
13iohexol449.7PF4, PPBP
14valine449.6THBD, PSMC4, RAF1
15sertraline44 28 50 24 1113.6PF4, PPBP
16zonisamide44 50 1111.6SCN9A, SCN4B, SCN3A, SCN11A
175-hydroxytryptamine449.6RAF1, PF4, THBD
18ticlopidine44 1110.5PPBP, PF4
19batrachotoxin289.5SCN8A, SCN10A, SCN9A, SCN3A
20polysulfone449.5PF4, PPBP
21quinacrine44 1110.4PF4, PPBP
2211-dehydrothromboxane b2449.4PPBP, THBD, PF4
236-ketoprostaglandin f1alpha449.4PF4, THBD, PPBP
24ptca449.4PPBP, THBD, PF4
25iloprost61 28 44 1112.4PF4, THBD, PPBP
26txb2449.4PF4, THBD, PPBP
27thromboxane44 2410.4PPBP, THBD, PF4
28warfarin44 50 24 1112.4PPBP, THBD, PF4
29pge1449.4PF4, THBD, PPBP
30aprotinin44 1110.3PPBP, THBD, PF4
31citrate449.3PPBP, THBD, PF4
32heparan sulfate44 2410.3PPBP, THBD, PF4
33prostacyclin449.3PF4, THBD, PPBP
34dmso449.2PPBP, THBD, PF4
35hirudin449.2PF4, THBD
36aspirin44 50 28 2412.1PPBP, THBD, PF4, RAF1
37histamine44 28 2411.1PPBP, THBD, PF4, RAF1
38fibrinogen449.0PF4, THBD, PPBP
3912-o-tetradecanoylphorbol 13-acetate449.0RAF1, PSMC4, PF4
40thymidine44 249.9RAF1, PSMC4, PF4, PPBP
41qx 314 chloride618.8SCN8A, SCN11A, SCN3A, SCN4B, SCN9A, SCN10A
42phrixotoxin 3618.8SCN4B, SCN9A, SCN10A, SCN8A, SCN3A, SCN11A
43tetrodotoxin citrate618.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
44veratridine44 61 2810.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
45tetrodotoxin44 61 2810.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
46heparin44 28 24 1111.6PPBP, THBD, PF4, PSMC4, RAF1
47vegf448.6PPBP, THBD, PF4, PSMC4, RAF1
48alanine448.6RAF1, PSMC4, PF4, THBD, PPBP
49cysteine448.5PPBP, THBD, PF4, PSMC4, RAF1
50sodium44 247.5PSMC4, PF4, SCN11A, SCN3A, SCN7A, SCN4B

GO Terms for genes affiliated with Erythromelalgia

About this section

Cellular components related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C-fiberGO:0442999.6SCN11A, SCN10A
2platelet alpha granule lumenGO:0310939.3PF4, PPBP
3voltage-gated sodium channel complexGO:0015187.5SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

Biological processes related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1AV node cell to bundle of His cell communicationGO:0860679.5SCN4B, SCN10A
2blood coagulationGO:0075968.7RAF1, PF4, THBD, PPBP
3platelet activationGO:0301688.7PPBP, PF4, FZD6, RAF1
4sodium ion transmembrane transportGO:0357258.4SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
5sodium ion transportGO:0068147.6SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

Molecular functions related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine activityGO:0080099.3PF4, PPBP
2voltage-gated sodium channel activityGO:0052487.3SCN11A, SCN3A, SCN7A, SCN4B, SCN9A, SCN10A

Products for genes affiliated with Erythromelalgia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Erythromelalgia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet