MCID: ERY008
MIFTS: 51

Erythromelalgia malady

Neuronal, Skin, Genetic categories

Summaries for Erythromelalgia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Erythromelalgia, also known as primary erythermalgia, is related to myeloproliferative disorder and pain disorder, and has symptoms including autosomal dominant inheritance, hypothermia and repeat respiratory infections. 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 Interaction between L1 and Ankyrins. The compounds aft-ii and bc-iii have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain.

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

Description from OMIM:47 133020

Aliases & Classifications for Erythromelalgia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 27ICD9CM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
erythromelalgia:
Inheritance: Autosomal dominant; Age of onset: Childhood
primary erythermalgia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

erythromelalgia 8 43 21 10 45 49 61
primary erythermalgia 43 49 61
sodium channelopathy-related small fiber neuropathy 49
familial erythromelalgia 21
primary erythromelalgia 21
erythermalgia, primary 47
erythermalgia 21


External Ids:

Disease Ontology8 DOID:9240
NCIt40 C34593
ICD9CM27 443.82
MeSH35 D004916
MESH via Orphanet36 D004916
SNOMED-CT57 238777005, 37151006
ICD10 via Orphanet26 I73.8
SNOMED-CT via Orphanet58 37151006
UMLS via Orphanet62 C0014804
OMIM47 133020

Related Diseases for Erythromelalgia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1myeloproliferative disorder30.3PPBP, PF4, THBD
2pain disorder30.2SCN3A, SCN8A, SCN9A
3polycythemia vera30.1THBD, PF4
4thrombocytosis29.9THBD, PF4, PPBP
5thrombophilia29.8THBD, PF4, PPBP
6vasculitis29.8PPBP, THBD, PEPD
7scn9a-related inherited erythromelalgia10.2
8essential thrombocythemia10.2
9paroxysmal extreme pain disorder10.2
10raynaud disease10.1
11small fiber neuropathy10.1
12cholera10.0PF4
13polycythemia10.0PPBP
14intermittent claudication10.0PF4
15migraine10.0PPBP
16timothy syndrome10.0SCN4B
17mitral valve stenosis10.0PPBP, PF4
18hypercholesterolemia10.0THBD, PPBP
19uremia10.0PF4
20peripheral vascular disease10.0PPBP, PF4
21hemorrhagic disease10.0PPBP, PF4, THBD
22hemorrhagic thrombocythemia10.0PPBP, PF4, THBD
23essential hypertension10.0PPBP, PF4, THBD
24thrombotic thrombocytopenic purpura, acquired10.0THBD, PPBP
25disseminated intravascular coagulation10.0THBD, PF4, PPBP
26dravet syndrome10.0SCN8A, SCN3A
27hypertension10.0PPBP
28congenital heart defect10.0PPBP, PF4, THBD
29adult respiratory distress syndrome10.0THBD, PPBP
30systemic scleroderma10.0THBD, PF4, PPBP
31epilepsy with generalized tonic-clonic seizures10.0SCN3A, SCN8A
32stroke, ischemic10.0THBD, PF4, PPBP
33long qt syndrome10.0SCN8A, SCN4B, SCN3A
34brugada syndrome10.0NAV1, SCN8A, SCN4B
35axonal neuropathy9.9
36episodic ataxia9.9
37renovascular hypertension9.9
38reflex sympathetic dystrophy9.9
39causalgia9.9
40cellulitis9.9
41systemic lupus erythematosus9.9
42thrombotic thrombocytopenic purpura9.9
43infectious mononucleosis9.9
44n syndrome9.9
45hypertensive heart disease9.9
46thrombocytopenia9.9
47vascular disease9.9
48ataxia9.9
49autonomic dysfunction9.9
50chronic pain9.9

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to erythromelalgia

Clinical Features for Erythromelalgia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

133020

Clinical synopsis from OMIM:

133020

Symptoms:

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

Drugs & Therapeutics for Erythromelalgia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Erythromelalgia

Drug clinical trials:

Search ClinicalTrials for Erythromelalgia

Search NIH Clinical Center for Erythromelalgia

Search CenterWatch for Erythromelalgia

Genetic Tests for Erythromelalgia

Anatomical Context for Erythromelalgia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Erythromelalgia:

33
Skin, Spinal cord, Brain, Heart, Breast, Endothelial, Dorsal root ganglion

Animal Models for Erythromelalgia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Erythromelalgia

Sources:
51PubMed
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Articles related to Erythromelalgia:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community. (23762561)
2013
2
A new Nav1.7 mutation in an erythromelalgia patient. (23376079)
2013
3
Erythromelalgia associated with Clitocybe acromelalga intoxication. (23641936)
2013
4
Inherited Pain: Sodium Channel Nav1.7 A1632T Mutation Causes Erythromelalgia Due to a Shift of Fast Inactivation. (24311784)
2013
5
Paraneoplastic erythromelalgia associated with breast carcinoma. (22715841)
2012
6
Secondary erythromelalgia successfully treated with intravenous immunoglobulin. (22156790)
2012
7
Kinetic modeling of Nav1.7 provides insight into erythromelalgia-associated F1449V mutation. (21289137)
2011
8
Refractory erythromelalgia of the ears: response to mexiletine. (20392536)
2011
9
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. (20478850)
2010
10
Functional vascular diseases: Raynaud's syndrome, acrocyanosis and erythromelalgia. (20186674)
2010
11
Erythromelalgia: a novel postoperative complication. (20230709)
2010
12
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. (19557861)
2009
13
Experience with oral mexiletine in primary erythromelalgia in children. (19584578)
2009
14
Romiplostim-induced erythromelalgia in a patient with idiopathic thrombocytopenic purpura. (19486002)
2009
15
Childhood steroid-responsive acute erythromelalgia with axonal neuropathy of large myelinated fibers: a dysimmune neuropathy? (19056270)
2009
16
A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation. (18550534)
2008
17
Treatment of familial erythromelalgia with venlafaxine. (17567325)
2007
18
A case of inherited erythromelalgia. (17410110)
2007
19
Characterization of a familial case with primary erythromelalgia from Taiwan. (17294067)
2007
20
Erythromelalgia: an underrecognized manifestation of small-fiber neuropathy. (16901020)
2006
21
Thermoregulatory sweat testing in patients with erythromelalgia. (17178984)
2006
22
Erythromelalgia as a presenting manifestation in a patient with essential thrombocythemia complicating renovascular hypertension due to unilateral renal artery stenosis. (15750823)
2005
23
Erythromelalgia misdiagnosed as cellulitis. (15732433)
2005
24
Erythromelalgia. (15008600)
2004
25
Acute neuropathy and erythromelalgia following topical exposure to isopropanol. (14748412)
2004
26
The prostaglandin E1 analog misoprostol reduces symptoms and microvascular arteriovenous shunting in erythromelalgia-a double-blind, crossover, placebo-compared study. (15086539)
2004
27
Alleviation of erythromelalgia with venlafaxine. (15148116)
2004
28
The use of regional anaesthetic blockade in a child with recurrent erythromelalgia. (12495966)
2003
29
Erythromelalgia induced by possible calcium channel blockade by ciclosporin. (12714471)
2003
30
Erroneous erythromelalgia. (12919439)
2003
31
Erythromelalgia in a patient with idiopathic thrombocytopenic purpura. (12534624)
2003
32
Erythromelalgia due to essential thrombocythemia. (12423504)
2002
33
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. (8883266)
1996
34
Erythromelalgia versus primary and secondary erythermalgia. (8192787)
1994
35
Control of intractable pain in erythromelalgia by using spinal cord stimulation. (7963776)
1993
36
Erythromelalgia in a twenty-year-old with infectious mononucleosis. (8417413)
1993
37
SCN9A-Related Inherited Erythromelalgia (20301342)
1993
38
Clinical characteristics and pathophysiology of erythromelalgia and erythermalgia. (1626563)
1992
39
Presence of specific IgG antibody to the A type inclusions of erythromelalgia-related poxvirus in the sera of patients with epidemic erythromelalgia. (1785945)
1991
40
Primary erythromelalgia: the role of skin sympathetic nerve activity. (1798217)
1991
41
Erythromelalgia: review of clinical characteristics and pathophysiology. (1951386)
1991
42
Coexistence of Raynaud's syndrome and erythromelalgia. (1971361)
1990
43
Erythromelalgia and thrombocythemia: a causal relation. (2405024)
1990
44
Thrombocythaemic erythromelalgia in chronic myeloproliferative and myelodysplastic disorders. (2779694)
1989
45
Poxviruses isolated from epidemic erythromelalgia in China. (2893103)
1988
46
Erythromelalgia--pathophysiological and therapeutic aspects. A preliminary report. (3559792)
1987
47
Erythromelalgia--not so benign. (3592957)
1987
48
Erythromelalgia: case report and literature review. (3545140)
1987
49
Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. (3977194)
1985
50
Erythromelalgia. (535232)
1979

Genetic Variations for Erythromelalgia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Erythromelalgia:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Erythromelalgia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 54Reactome, 52QIAGEN
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Compounds for genes affiliated with Erythromelalgia

Sources:
29IUPHAR, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Erythromelalgia according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1aft-ii2910.3SCN3A, SCN8A
2bc-iii2910.2SCN3A, SCN8A
3atx-ii2910.2SCN3A, SCN8A
4fibrinopeptide a4510.2THBD, PF4
5Lacosamide1110.2SCN10A, SCN3A, SCN9A
6ppbp4510.2PF4, PPBP
7fondaparinux4510.2THBD, PF4
8cellulose triacetate4510.1PPBP, PF4
9Drotrecogin alfa1110.1THBD, PF4
10saxitoxin2910.1SCN9A, SCN8A, SCN3A
11iohexol4510.0PF4, PPBP
12sertraline45 29 50 11 2414.0PPBP, PF4
13cilostazol45 1111.0THBD, PF4
1411-dehydrothromboxane b24510.0PPBP, PF4, THBD
156-ketoprostaglandin f1alpha459.9THBD, PF4, PPBP
16ptca459.9THBD, PF4, PPBP
17iloprost45 60 29 1112.9PPBP, PF4, THBD
18txb2459.9THBD, PF4, PPBP
19zonisamide45 1110.9SCN11A, SCN9A, SCN4B, SCN3A
20warfarin45 50 11 2412.9PPBP, PF4, THBD
21batrachotoxin299.9SCN9A, SCN8A, SCN3A, SCN10A
22thromboxane45 2410.9PPBP, PF4, THBD
23pge1459.8PPBP, PF4, THBD
24aprotinin45 1110.8PPBP, PF4, THBD
25ticlopidine45 1110.8PF4, PPBP
26gamma-carboxyglutamic acid459.8THBD, PF4
27citrate459.8THBD, PF4, PPBP
28hyaluronic acid45 2410.7PPBP, THBD, PEPD
29aspirin45 50 29 2412.6PPBP, PF4, THBD, PEPD
30phrixotoxin 3609.4SCN11A, SCN9A, SCN8A, SCN4B, SCN3A, SCN10A
31qx 314 chloride609.4SCN10A, SCN3A, SCN4B, SCN8A, SCN9A, SCN11A
32tetrodotoxin citrate609.4SCN10A, SCN3A, SCN4B, SCN8A, SCN11A, SCN9A
33veratridine45 60 2911.4SCN10A, SCN3A, SCN4B, SCN8A, SCN9A, SCN11A
34tetrodotoxin45 60 2911.4SCN10A, SCN3A, SCN4B, SCN8A, SCN9A, SCN11A
35heparan sulfate45 2410.3PPBP, PF4, THBD
36thymidine45 249.9PEPD, PF4, PPBP, PSMC4
37alanine458.8PEPD, THBD, PF4, PPBP, PSMC4
38sodium45 248.8PSMC4, SCN10A, SCN3A, SCN7A, SCN4B, SCN8A

GO Terms for genes affiliated with Erythromelalgia

Sources:
16Gene Ontology
See all sources

Cellular components related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:0015188.6SCN11A, SCN9A, SCN8A, SCN4B, SCN7A, SCN3A

Biological processes related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium ion transmembrane transportGO:03572510.0SCN4B, SCN10A
2AV node cell to bundle of His cell communicationGO:0860679.7SCN4B, SCN10A
3sodium ion transportGO:0068148.5SCN11A, SCN10A, SCN3A, SCN7A, SCN4B, SCN8A

Molecular functions related to Erythromelalgia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:0052488.6SCN11A, SCN9A, SCN8A, SCN4B, SCN7A, SCN3A

Products for genes affiliated with Erythromelalgia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Erythromelalgia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet