MCID: ERY008
MIFTS: 63

Erythromelalgia malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases categories

Summaries for Erythromelalgia

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OMIM:46 'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic... (133020) more...

MalaCards based summary: Erythromelalgia, also known as primary erythermalgia, is related to paroxysmal extreme pain disorder and polycythemia vera, and has symptoms including peripheral neuropathy, pruritus and abnormality of thrombocytes. 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 Formation of Fibrin Clot (Clotting Cascade). The compounds lidocaine and bc-iii have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:22 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.

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

Wikipedia:64 Erythromelalgia, formerly known as Mitchell\'s disease (after Silas Weir Mitchell), acromelalgia, red... more...

Description from OMIM:46 615551

Aliases & Classifications for Erythromelalgia

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Sources:
9Disease Ontology, 42NIH Rare Diseases, 22Genetics Home Reference, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 34MeSH, 28ICD9CM, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Erythromelalgia, Aliases & Descriptions:

Name: Erythromelalgia 9 42 22 11 44 48 61
Primary Erythermalgia 42 48 61
Familial Erythromelalgia 22 61
Primary Erythromelalgia 22 61
 
Mitchell Disease 42 61
Sodium Channelopathy-Related Small Fiber Neuropathy 48
Erythermalgia, Primary 46
Erythermalgia 22


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 Ontology9 DOID:9240
MeSH34 D004916
ICD9CM28 443.82
NCIt39 C34593
SNOMED-CT56 37151006, 238777005
MESH via Orphanet35 D004916
ICD10 via Orphanet27 I73.8
UMLS via Orphanet62 C0014804

Related Diseases for Erythromelalgia

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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 78)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal extreme pain disorder31.1SCN9A
2polycythemia vera30.5PF4, THBD
3vascular disease30.3THBD, PF4
4pain disorder30.3SCN9A, SCN8A, SCN3A
5thrombophilia30.2THBD, PPBP, PF4
6thrombocytosis30.2PF4, PPBP, THBD
7thrombocytopenia30.2PF4, PPBP, THBD
8peripheral vascular disease10.5PPBP
9timothy syndrome10.4SCN4B
10neuropathy10.4
11mitral valve stenosis10.4PPBP, PF4
12thrombotic thrombocytopenic purpura, acquired10.3THBD, PPBP
13adult respiratory distress syndrome10.3THBD, PPBP
14essential thrombocythemia10.3
15hypertension10.2
16neuronitis10.2
17scn9a-related inherited erythromelalgia10.2
18antiphospholipid syndrome10.2PF4, THBD
19hemorrhagic disease10.2THBD, PPBP, PF4
20hemorrhagic thrombocythemia10.2PPBP, PF4, THBD
21stroke, ischemic10.2PPBP, THBD, PF4
22disseminated intravascular coagulation10.2PF4, PPBP, THBD
23bone marrow cancer10.2PF4, THBD, PPBP
24congenital heart disease10.2THBD, PF4, PPBP
25acute myocardial infarction10.2THBD, PPBP, PF4
26systemic scleroderma10.2PPBP, THBD, PF4
27essential hypertension10.2PPBP, THBD, PF4
28burns10.2
29lupus erythematosus10.2
30polycythemia10.2
31purpura10.2
32venous thrombosis10.2THBD, PF4
33factor v leiden thrombophilia10.1PPBP, THBD, PF4
34dravet syndrome10.1SCN8A, SCN3A
35coronary artery anomaly10.1PPBP, PF4, THBD
36thromboembolism10.1THBD, PF4
37epilepsy with generalized tonic-clonic seizures10.1SCN3A, SCN8A
38chronic kidney failure10.1PPBP, THBD, PF4
39brugada syndrome10.1SCN8A, SCN4B
40diabetic neuropathy10.1
41cerebritis10.1
42olmsted syndrome10.1
43small fiber neuropathy10.1
44blindness10.1
45endotheliitis10.1
46cerebrovascular disease10.1PPBP, THBD, PF4
47sickle cell disease10.1PF4, PPBP
48cervicitis10.1
49idiopathic generalized epilepsy10.0SCN8A, SCN3A
50long qt syndrome10.0SCN3A, SCN4B, SCN8A

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to erythromelalgia

Symptoms for Erythromelalgia

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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

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Drug clinical trials:

Search ClinicalTrials for Erythromelalgia

Search NIH Clinical Center for Erythromelalgia

Genetic Tests for Erythromelalgia

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Anatomical Context for Erythromelalgia

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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

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MGI Mouse Phenotypes related to Erythromelalgia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.2SCN8A, SCN10A, SCN9A, SCN11A, PSMC4, THBD
2MP:00053867.9PSMC4, SCN11A, SCN3A, SCN9A, SCN10A, SCN8A

Publications for Erythromelalgia

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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

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UniProtKB/Swiss-Prot genetic disease variations for Erythromelalgia:

63
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:

7 (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 pathogenic, 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

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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

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Compounds for genes affiliated with Erythromelalgia

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Compounds related to Erythromelalgia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1lidocaine44 29 1212.1SCN10A, SCN9A
2bc-iii2910.0SCN8A, SCN3A
3atx-ii2910.0SCN8A, SCN3A
4aft-ii2910.0SCN8A, SCN3A
5fibrinopeptide a449.9THBD, PF4
6fondaparinux449.9PF4, THBD
7desmopressin44 60 29 1212.8THBD, PPBP
8cilostazol44 1210.8PF4, THBD
9gamma-carboxyglutamic acid449.8THBD, PF4
10saxitoxin299.8SCN3A, SCN9A, SCN8A
11ppbp449.7PPBP, PF4
12cellulose triacetate449.7PPBP, PF4
13iohexol449.7PF4, PPBP
14sertraline44 29 50 25 1213.7PF4, PPBP
15hirudin449.7THBD, PF4
16ticlopidine44 1210.6PPBP, PF4
17polysulfone449.6PF4, PPBP
18quinacrine44 1210.6PF4, PPBP
19zonisamide44 50 1211.5SCN9A, SCN4B, SCN3A, SCN11A
20batrachotoxin299.5SCN3A, SCN9A, SCN10A, SCN8A
2111-dehydrothromboxane b2449.4PPBP, THBD, PF4
226-ketoprostaglandin f1alpha449.4PF4, THBD, PPBP
23ptca449.4PPBP, THBD, PF4
24iloprost60 29 44 1212.4PF4, THBD, PPBP
25txb2449.4PF4, THBD, PPBP
26thromboxane44 2510.4PPBP, THBD, PF4
27dipyridamole44 60 29 1212.4PF4, PPBP
28warfarin44 50 25 1212.4PF4, THBD, PPBP
29pge1449.4PPBP, THBD, PF4
30aprotinin44 1210.4PF4, THBD, PPBP
31citrate449.3PPBP, THBD, PF4
32heparan sulfate44 2510.3PF4, THBD, PPBP
33prostacyclin449.3PF4, THBD, PPBP
34dmso449.3PPBP, THBD, PF4
35aspirin44 50 29 2512.3PPBP, THBD, PF4
36fibrinogen449.2PF4, THBD, PPBP
37histamine44 29 2511.1PF4, THBD, PPBP
38potassium44 25 1210.9PSMC4, PF4, SCN8A
39heparin44 29 25 1211.8PPBP, THBD, PF4, PSMC4
40phrixotoxin 3608.8SCN9A, SCN10A, SCN8A, SCN4B, SCN3A, SCN11A
41tetrodotoxin citrate608.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
42qx 314 chloride608.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
43veratridine44 60 2910.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
44tetrodotoxin44 60 2910.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
45vegf448.7PPBP, THBD, PF4, PSMC4
46alanine448.7PPBP, THBD, PF4, PSMC4
47atp44 299.5PPBP, THBD, PF4, PSMC4
48cysteine448.4PPBP, THBD, PF4, PSMC4
49glucose448.2PSMC4, PF4, THBD, PPBP
50sodium44 257.5PSMC4, PF4, SCN11A, SCN3A, SCN7A, SCN4B

GO Terms for genes affiliated with Erythromelalgia

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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:0015187.4SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

Biological processes related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to toxic substanceGO:0096369.7SCN9A, SCN8A
2AV node cell to bundle of His cell communicationGO:0860679.5SCN4B, SCN10A
3sodium ion transmembrane transportGO:0357258.2SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
4sodium ion transportGO:0068147.5SCN11A, 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:0052487.2SCN11A, SCN3A, SCN7A, SCN4B, SCN9A, SCN10A

Products for genes affiliated with Erythromelalgia

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Sources for Erythromelalgia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet