Details of Disease

General Information of Disease (ID: DIS1IW05)

Disease Name Erythromelalgia
Definition
A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.
Disease Hierarchy
DISYKSRF: Genetic disease
DISXSU1Y: Peripheral vascular disease
DIS1IW05: Erythromelalgia
Disease Identifiers
MONDO ID
MONDO_0016028
MESH ID
D004916
UMLS CUI
C0014804
MedGen ID
8687
HPO ID
HP:0032147
SNOMED CT ID
37151006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN10A TT90XZ8 Strong Genetic Variation [1]
SCN9A TT4G2JS Strong Genetic Variation [2]
TRPV3 TT946IA Strong Genetic Variation [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NMNAT2 DE2HB58 Limited Biomarker [4]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MCF2L2 OTOGFMIH Strong Genetic Variation [5]
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References

1 SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.PLoS One. 2016 Sep 6;11(9):e0161789. doi: 10.1371/journal.pone.0161789. eCollection 2016.
2 Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.J Pediatr. 2019 Mar;206:217-224.e9. doi: 10.1016/j.jpeds.2018.10.024. Epub 2018 Nov 9.
3 A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.JAMA Dermatol. 2014 Mar;150(3):303-6. doi: 10.1001/jamadermatol.2013.8709.
4 Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.Exp Neurol. 2019 Oct;320:112961. doi: 10.1016/j.expneurol.2019.112961. Epub 2019 May 25.
5 Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.Mol Pain. 2007 Jan 19;3:3. doi: 10.1186/1744-8069-3-3.