MCID: ERY008
MIFTS: 56

Erythromelalgia malady

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

Summaries for Erythromelalgia

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NIH Rare Diseases:41 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 essential thrombocythemia, 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: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:63 Erythromelalgia, formerly known as Mitchell\'s disease (after Silas Weir Mitchell), acromelalgia, red... more...

Aliases & Classifications for Erythromelalgia

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 27ICD9CM, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Erythromelalgia, Aliases & Descriptions:

Name: Erythromelalgia 9 41 21 11 43 47 60
Primary Erythermalgia 41 47 60
Primary Erythromelalgia 21 22
 
Familial Erythromelalgia 21
Mitchell Disease 41
Erythermalgia 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

47
erythromelalgia:
Inheritance: Autosomal dominant; Age of onset: Childhood
primary erythermalgia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:9240
ICD9CM27 443.82
NCIt38 C34593
MeSH33 D004916
SNOMED-CT55 238777005, 37151006
Orphanet47 1956, 90026
MESH via Orphanet34 D004916
ICD10 via Orphanet26 I73.8
UMLS via Orphanet61 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 Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal extreme pain disorder31.1SCN9A
2essential thrombocythemia30.8PF4, THBD, PPBP
3polycythemia vera30.7PF4, THBD
4vascular disease30.3PF4, THBD
5pain disorder30.3SCN8A, SCN9A, SCN3A
6thrombophilia30.2PF4, THBD, PPBP
7thrombocytosis30.2PPBP, THBD, PF4
8thrombocytopenia30.2PF4, THBD, PPBP
9peripheral vascular disease10.5PPBP
10neuropathy10.5
11timothy syndrome10.4SCN4B
12erythermalgia, primary10.4
13mitral valve stenosis10.4PF4, PPBP
14thrombotic thrombocytopenic purpura, acquired10.3THBD, PPBP
15acute respiratory distress syndrome10.3PPBP, THBD
16raynaud disease10.3THBD, PF4
17thrombophilia due to activated protein c resistance10.3THBD, PF4
18scn9a-related inherited erythromelalgia10.3
19burns10.2
20neuronitis10.2
21polycythemia10.2
22antiphospholipid syndrome10.2PF4, THBD
23hemorrhagic disease10.2PF4, THBD, PPBP
24disseminated intravascular coagulation10.2PPBP, THBD, PF4
25bone marrow cancer10.2PPBP, THBD, PF4
26congenital heart disease10.2PPBP, THBD, PF4
27acute myocardial infarction10.2PF4, THBD, PPBP
28systemic scleroderma10.2PPBP, THBD, PF4
29atrial fibrillation10.2PF4, PPBP
30hypertension, essential10.2PF4, THBD, PPBP
31lupus erythematosus10.2
32purpura10.2
33thrombophilia due to thrombin defect10.2PF4, THBD
34factor v leiden thrombophilia10.1PPBP, THBD, PF4
35dravet syndrome10.1SCN3A, SCN8A
36coronary artery disease10.1PF4, THBD, PPBP
37chronic kidney failure10.1PF4, THBD, PPBP
38epilepsy with generalized tonic-clonic seizures10.1SCN3A, SCN8A
39brugada syndrome10.1SCN4B, SCN8A
40olmsted syndrome10.1
41diabetic neuropathy10.1
42axonal neuropathy10.1
43cerebritis10.1
44blindness10.1
45endotheliitis10.1
46stroke, ischemic10.1PPBP, THBD, PF4
47cervicitis10.1
48sickle cell disease10.1PPBP, PF4
49epilepsy, idiopathic generalized10.0SCN8A, 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:

 47 (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 7)
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

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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Genetic tests related to Erythromelalgia:

id Genetic test Affiliating Genes
1 Primary Erythromelalgia22

Anatomical Context for Erythromelalgia

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MalaCards organs/tissues related to Erythromelalgia:

31
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:

35
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 281)
idTitleAuthorsYear
1
A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China. (25820221)
2015
2
Paroxysmal burning pain caused by erythromelalgia. (24814455)
2014
3
Recurrent Facial Erythema with Burning Sensation and Increased Temperature: A Variant of Erythromelalgia or a New Entity? (24433512)
2014
4
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. (24866741)
2014
5
Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. (23762561)
2013
6
Localized secondary erythromelalgia in an 11-year-old boy. (22612394)
2013
7
Immersion foot associated with the overuse of ice, cold water, and fans: a distinctive clinical presentation complicating the syndrome of erythromelalgia. (23768296)
2013
8
Primary erythromelalgia with severe ulcers and successful ulcer treatment with sorbalgon. (22134130)
2012
9
Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period. (21798623)
2012
10
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
11
Erythromelalgia presenting after neurosurgical intervention in a patient with multiple malformations of the spinal cord. (21920230)
2011
12
Primary erythromelalgia with leukonychia combined with ulcerations and infection by Monilia guilliermondii. (21421200)
2011
13
Massage therapy techniques as pain management for erythromelalgia: a case report. (21589683)
2010
14
A case of erythromelalgia: good response to treatment with gabapentin. (20480803)
2010
15
Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy. (19481586)
2010
16
Erythromelalgia accompanying rosuvastatin-associated myopathy. (21886718)
2009
17
Late-onset erythromelalgia in a previously healthy young woman: a case report and review of the literature. (19946584)
2009
18
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. (19557861)
2009
19
Red ear syndrome and auricular erythromelalgia: the same condition? (19489849)
2009
20
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
21
Thermoregulatory sweat testing in patients with erythromelalgia. (17178984)
2006
22
The use of regional anaesthetic blockade in a child with recurrent erythromelalgia. (12495966)
2003
23
Sympathetic skin response (SSR) in erythromelalgia. (12712804)
2003
24
Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside. (12193436)
2002
25
Hot feet: erythromelalgia and related disorders. (11305688)
2001
26
Erythromelalgia: new theories and new therapies. (11050591)
2000
27
Impaired skin vasomotor reflexes in patients with erythromelalgia. (10209083)
1999
28
Neurophysiologic and vascular studies in erythromelalgia: a retrospective analysis. (19078553)
1999
29
Adenosine for pain relief in a patient with intractable secondary erythromelalgia. (15102395)
1997
30
Erythromelalgia pain managed with gabapentin. (9105243)
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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Clinvar genetic disease variations for Erythromelalgia:

6 (show all 11)
id Gene Variation 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.2573T> A (p.Leu858His)single nucleotide variantPathogenicrs80356475GRCh37Chr 2, 167133761: 167133761
6NM_002977.3(SCN9A): c.2543T> C (p.Ile848Thr)single nucleotide variantPathogenicrs80356474GRCh37Chr 2, 167133791: 167133791
7SCN9ANM_002977.3(SCN9A): c.721T> A (p.Ser241Thr)single nucleotide variantPathogenicrs80356470GRCh37Chr 2, 167159780: 167159780
8NM_002977.3(SCN9A): c.4345T> G (p.Phe1449Val)single nucleotide variantPathogenicrs80356478GRCh37Chr 2, 167083097: 167083097
9NM_002977.3(SCN9A): c.2572C> T (p.Leu858Phe)single nucleotide variantPathogenicrs80356476GRCh37Chr 2, 167133762: 167133762
10SCN9ANM_002977.3(SCN9A): c.647T> C (p.Phe216Ser)single nucleotide variantPathogenicrs80356469GRCh37Chr 2, 167160789: 167160789
11SCN9ANM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)single nucleotide variantPathogenicrs267607030GRCh37Chr 2, 167168238: 167168238

Expression for genes affiliated with Erythromelalgia

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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 Suite gene sharing:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1lidocaine43 28 1212.1SCN10A, SCN9A
2bc-iii2810.0SCN8A, SCN3A
3atx-ii2810.0SCN8A, SCN3A
4aft-ii2810.0SCN8A, SCN3A
5fibrinopeptide a439.9THBD, PF4
6fondaparinux439.9PF4, THBD
7desmopressin43 59 28 1212.8THBD, PPBP
8cilostazol43 1210.8PF4, THBD
9gamma-carboxyglutamic acid439.8THBD, PF4
10saxitoxin289.8SCN3A, SCN9A, SCN8A
11ppbp439.7PPBP, PF4
12cellulose triacetate439.7PPBP, PF4
13iohexol439.7PF4, PPBP
14sertraline43 28 49 24 1213.7PF4, PPBP
15hirudin439.7THBD, PF4
16ticlopidine43 1210.6PPBP, PF4
17polysulfone439.6PF4, PPBP
18quinacrine43 1210.6PF4, PPBP
19zonisamide43 49 1211.5SCN9A, SCN4B, SCN3A, SCN11A
20batrachotoxin289.4SCN3A, SCN9A, SCN10A, SCN8A
2111-dehydrothromboxane b2439.4PPBP, THBD, PF4
226-ketoprostaglandin f1alpha439.4PF4, THBD, PPBP
23ptca439.4PPBP, THBD, PF4
24iloprost59 28 43 1212.4PF4, THBD, PPBP
25txb2439.4PF4, THBD, PPBP
26thromboxane43 2410.4PPBP, THBD, PF4
27dipyridamole43 59 28 1212.4PF4, PPBP
28warfarin43 49 24 1212.4PF4, THBD, PPBP
29pge1439.4PPBP, THBD, PF4
30aprotinin43 1210.4PF4, THBD, PPBP
31citrate439.3PPBP, THBD, PF4
32heparan sulfate43 2410.3PF4, THBD, PPBP
33prostacyclin439.3PF4, THBD, PPBP
34dmso439.3PPBP, THBD, PF4
35aspirin43 49 28 2412.3PPBP, THBD, PF4
36fibrinogen439.2PF4, THBD, PPBP
37histamine43 28 2411.1PF4, THBD, PPBP
38potassium43 24 1210.9PSMC4, PF4, SCN8A
39heparin43 28 24 1211.8PPBP, THBD, PF4, PSMC4
40phrixotoxin 3598.8SCN9A, SCN10A, SCN8A, SCN4B, SCN3A, SCN11A
41tetrodotoxin citrate598.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
42qx 314 chloride598.8SCN11A, SCN3A, SCN4B, SCN9A, SCN10A, SCN8A
43veratridine43 59 2810.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
44tetrodotoxin43 59 2810.8SCN8A, SCN10A, SCN9A, SCN4B, SCN3A, SCN11A
45vegf438.7PPBP, THBD, PF4, PSMC4
46alanine438.7PPBP, THBD, PF4, PSMC4
47atp43 289.5PPBP, THBD, PF4, PSMC4
48cysteine438.4PPBP, THBD, PF4, PSMC4
49glucose438.2PSMC4, PF4, THBD, PPBP
50sodium43 247.5PSMC4, PF4, SCN11A, SCN3A, SCN7A, SCN4B

GO Terms for genes affiliated with Erythromelalgia

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Cellular components related to Erythromelalgia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1C-fiberGO:00442999.6SCN11A, SCN10A
2platelet alpha granule lumenGO:00310939.3PF4, PPBP
3voltage-gated sodium channel complexGO:00015187.4SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

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

idNameGO IDScoreTop Affiliating Genes
1response to toxic substanceGO:00096369.7SCN9A, SCN8A
2AV node cell to bundle of His cell communicationGO:00860679.5SCN4B, SCN10A
3sodium ion transmembrane transportGO:00357258.2SCN9A, SCN4B, SCN3A, SCN11A, SCN8A, SCN10A
4sodium ion transportGO:00068147.5SCN11A, SCN8A, SCN10A, SCN9A, SCN4B, SCN7A

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

idNameGO IDScoreTop Affiliating Genes
1chemokine activityGO:00080099.3PF4, PPBP
2voltage-gated sodium channel activityGO:00052487.2SCN11A, SCN3A, SCN7A, SCN4B, SCN9A, SCN10A

Products for genes affiliated with Erythromelalgia

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Sources for Erythromelalgia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet