MCID: ERY008
MIFTS: 62

Erythromelalgia malady

Neuronal diseases, Skin diseases, Genetic diseases categories

Summaries for Erythromelalgia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Erythromelalgia, also known as primary erythermalgia, is related to hypertension and pain disorder, and has symptoms including hypothermia, myeloproliferative syndrome/chronic leukemia and platelet disorders/thrombopathies. 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, dorsal root ganglion and endothelial.

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...

Description from OMIM:46 133020,615551

Aliases & Classifications for Erythromelalgia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 27ICD9CM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 10 44 48 60
primary erythermalgia 42 48 60
sodium channelopathy-related small fiber neuropathy 48
familial erythromelalgia 21
primary erythromelalgia 21
erythermalgia, primary 46
mitchell disease 42
erythermalgia 21


External Ids:

Disease Ontology8 DOID:9240
NCIt39 C34593
ICD9CM27 443.82
MeSH34 D004916
MESH via Orphanet35 D004916
SNOMED-CT56 238777005, 37151006
ICD10 via Orphanet26 I73.8
SNOMED-CT via Orphanet57 37151006
UMLS via Orphanet61 C0014804

Related Diseases for Erythromelalgia

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17GeneCards, 18GeneDecks
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Diseases related to Erythromelalgia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.3PPBP
2pain disorder30.2SCN3A, SCN8A, SCN9A
3polycythemia30.0PPBP
4polycythemia vera30.0THBD, PF4
5thrombocytosis29.8THBD, PF4, PPBP
6essential hypertension29.8PPBP, PF4, THBD
7thrombophilia29.8THBD, PF4, PPBP
8vasculitis29.8PPBP, THBD, PEPD
9neuropathy10.4
10neuronitis10.2
11scn9a-related inherited erythromelalgia10.2
12purpura10.1
13burns10.0
14diabetic neuropathy10.0
15lupus erythematosus10.0
16paroxysmal extreme pain disorder10.0
17cervicitis10.0
18cholera10.0PF4
19intermittent claudication10.0PF4
20migraine10.0PPBP
21timothy syndrome10.0SCN4B
22mitral valve stenosis10.0PPBP, PF4
23hypercholesterolemia10.0THBD, PPBP
24uremia10.0PF4
25peripheral vascular disease10.0PPBP, PF4
26hemorrhagic disease10.0PPBP, PF4, THBD
27hemorrhagic thrombocythemia10.0PPBP, PF4, THBD
28myeloproliferative disorder10.0PPBP, PF4, THBD
29thrombotic thrombocytopenic purpura, acquired10.0THBD, PPBP
30disseminated intravascular coagulation10.0THBD, PF4, PPBP
31dravet syndrome10.0SCN8A, SCN3A
32congenital heart defect10.0PPBP, PF4, THBD
33adult respiratory distress syndrome10.0THBD, PPBP
34systemic scleroderma10.0THBD, PF4, PPBP
35epilepsy with generalized tonic-clonic seizures10.0SCN3A, SCN8A
36stroke, ischemic10.0THBD, PF4, PPBP
37long qt syndrome10.0SCN8A, SCN4B, SCN3A
38brugada syndrome10.0NAV1, SCN8A, SCN4B
39axonal neuropathy9.9
40episodic ataxia9.9
41renovascular hypertension9.9
42reflex sympathetic dystrophy9.9
43causalgia9.9
44cellulitis9.9
45cerebritis9.9
46systemic lupus erythematosus9.9
47thrombotic thrombocytopenic purpura9.9
48infectious mononucleosis9.9
49hypertensive heart disease9.9
50glomerulonephritis9.9

Graphical network of the top 20 diseases related to Erythromelalgia:



Diseases related to erythromelalgia

Clinical Features for Erythromelalgia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

133020,615551

Clinical synopsis from OMIM:

133020

Symptoms:

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

Drugs & Therapeutics for Erythromelalgia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Erythromelalgia

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32MalaCards
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MalaCards organs/tissues related to Erythromelalgia:

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

Animal Models for Erythromelalgia or affiliated genes

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Publications for Erythromelalgia

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50PubMed
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Articles related to Erythromelalgia:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
Recurrent Facial Erythema with Burning Sensation and Increased Temperature: A Variant of Erythromelalgia or a New Entity? (24433512)
2014
2
Localized secondary erythromelalgia in an 11-year-old boy. (22612394)
2013
3
Auricular erythromelalgia: report of a rare case. (23473286)
2013
4
Autonomic dysfunction in SCN9A-associated primary erythromelalgia. (23152140)
2013
5
Topical amitriptyline combined with ketamine for the treatment of erythromelalgia: a retrospective study of 36 patients at Mayo Clinic. (23545913)
2013
6
Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. (22035805)
2012
7
Results of computer-assisted sensory evaluation in 41 patients with erythromelalgia. (22369570)
2012
8
Sympathetic block for treating primary erythromelalgia. (20552075)
2010
9
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off. (19162012)
2009
10
Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. (19549232)
2009
11
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. (19369487)
2009
12
Erythromelalgia of the ears: an unusual variant and response to therapy. (18380211)
2008
13
Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade. (18171466)
2008
14
Secondary erythromelalgia involving the ears probably preceding lupus erythematosus. (17973878)
2007
15
Combination gel of 1% amitriptyline and 0.5% ketamine to treat refractory erythromelalgia pain: a new treatment option? (16549702)
2006
16
Erythromelalgia: a hereditary pain syndrome enters the molecular era. (15929046)
2005
17
Erythromelalgia. (15654170)
2005
18
Sympathetic skin response (SSR) in erythromelalgia. (12712804)
2003
19
Erythromelalgia precipitated by acral erythema in the setting of thrombocytopenia. (12789198)
2003
20
Prostacyclin reduces symptoms and sympathetic dysfunction in erythromelalgia in a double-blind randomized pilot study. (14690340)
2003
21
Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside. (12193436)
2002
22
High-dose oral magnesium treatment of chronic, intractable erythromelalgia. (11847944)
2002
23
Impaired neurogenic control of skin perfusion in erythromelalgia. (11918719)
2002
24
Gabapentin for the treatment of familial erythromelalgia pain. (12421046)
2002
25
Mechanisms other than shunting are likely contributing to the pathophysiology of erythromelalgia. (11121163)
2000
26
Impaired skin vasomotor reflexes in patients with erythromelalgia. (10209083)
1999
27
Erythromelalgia as a paraneoplastic syndrome in a patient with abdominal cancer. (10494725)
1999
28
Erythromelalgia following influenza vaccine in a child. (9093785)
1997
29
Erythromelalgia responding to aspirin. (20948053)
1996
30
Erythromelalgia--a case study. (8703797)
1996
31
Platelet consumption in thrombocythemia complicated by erythromelalgia: reversal by aspirin. (7792731)
1995
32
Erythermalgia, erythromelalgia, or both? Conditions neglected by rheumatologists. (8441137)
1993
33
Paraneoplastic erythromelalgia. (8339204)
1993
34
Painful distal erythema and thrombocytosis. Erythromelalgia secondary to thrombocytosis. (8420478)
1993
35
Case of primary erythromelalgia in a child. (1628475)
1992
36
Treatment of primary erythromelalgia with piroxicam. (1999514)
1991
37
Erythromelalgia and myeloproliferative disorders. (2643412)
1989
38
Primary erythromelalgia associated with cerebral infarctions. (4078894)
1985
39
Erythromelalgia without arteriolar changes. (4037568)
1985
40
A way to understand erythromelalgia. (3998398)
1985
41
Sodium nitroprusside treatment in erythromelalgia. (6698066)
1984
42
Treatment of erythromelalgia. (6614946)
1983
43
Successful treatment of erythromelalgia with sodium nitroprusside. (430305)
1979
44
Erythermalgia (erythromelalgia) of the extremities in a ssoldier. (18147650)
1949
45
Polycythaemia vera; hypertensive heart disease; erythromelalgia syndrome and osteoarthropathy in the right leg. (18933893)
1948
46
Erythromelalgia. (20783429)
1940
47
Erythromelalgia-like Symptoms with High Blood-pressure. (19988520)
1932
48
Case of (?) Erythromelalgia: for Diagnosis. (19985941)
1927
49
Case of ? Erythromelalgia. (19982254)
1922
50
Erythromelalgia. (19973470)
1909

Genetic Variations for Erythromelalgia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Erythromelalgia:

62
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

Expression for genes affiliated with Erythromelalgia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Erythromelalgia

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Pathways for genes affiliated with Erythromelalgia

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12EMD Millipore, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Erythromelalgia

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28IUPHAR, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Erythromelalgia according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1aft-ii2810.3SCN3A, SCN8A
2bc-iii2810.2SCN3A, SCN8A
3atx-ii2810.2SCN3A, SCN8A
4fibrinopeptide a4410.2THBD, PF4
5Lacosamide1110.2SCN10A, SCN3A, SCN9A
6ppbp4410.2PF4, PPBP
7fondaparinux4410.2THBD, PF4
8cellulose triacetate4410.1PPBP, PF4
9Drotrecogin alfa1110.1THBD, PF4
10saxitoxin2810.1SCN9A, SCN8A, SCN3A
11iohexol4410.0PF4, PPBP
12sertraline44 28 49 11 2414.0PPBP, PF4
13cilostazol44 1111.0THBD, PF4
1411-dehydrothromboxane b24410.0PPBP, PF4, THBD
156-ketoprostaglandin f1alpha449.9THBD, PF4, PPBP
16ptca449.9THBD, PF4, PPBP
17iloprost44 59 28 1112.9PPBP, PF4, THBD
18txb2449.9THBD, PF4, PPBP
19zonisamide44 1110.9SCN11A, SCN9A, SCN4B, SCN3A
20warfarin44 49 11 2412.9PPBP, PF4, THBD
21batrachotoxin289.9SCN9A, SCN8A, SCN3A, SCN10A
22thromboxane44 2410.9PPBP, PF4, THBD
23pge1449.8PPBP, PF4, THBD
24aprotinin44 1110.8PPBP, PF4, THBD
25ticlopidine44 1110.8PF4, PPBP
26gamma-carboxyglutamic acid449.8THBD, PF4
27citrate449.8THBD, PF4, PPBP
28hyaluronic acid44 2410.7PPBP, THBD, PEPD
29aspirin44 49 28 2412.6PPBP, PF4, THBD, PEPD
30phrixotoxin 3599.4SCN11A, SCN9A, SCN8A, SCN4B, SCN3A, SCN10A
31qx 314 chloride599.4SCN10A, SCN3A, SCN4B, SCN8A, SCN9A, SCN11A
32tetrodotoxin citrate599.4SCN10A, SCN3A, SCN4B, SCN8A, SCN11A, SCN9A
33veratridine44 59 2811.4SCN10A, SCN3A, SCN4B, SCN8A, SCN9A, SCN11A
34tetrodotoxin44 59 2811.4SCN10A, SCN3A, SCN4B, SCN8A, SCN9A, SCN11A
35heparan sulfate44 2410.3PPBP, PF4, THBD
36thymidine44 249.9PEPD, PF4, PPBP, PSMC4
37alanine448.8PEPD, THBD, PF4, PPBP, PSMC4
38sodium44 248.8PSMC4, SCN10A, SCN3A, SCN7A, SCN4B, SCN8A

GO Terms for genes affiliated with Erythromelalgia

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16Gene Ontology
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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

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  • Antibodies
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Sources for Erythromelalgia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet