Erythromelalgia

Alias:
Erythermalgia
Familial Erythromelalgia
Primary Erythromelalgia
Primary Erythermalgia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Erythromelalgia, also known as erythermalgia, is related to erythermalgia, primary and essential thrombocythemia, and has symptoms including constipation, diarrhea and pruritus. An important gene associated with Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. The drugs Carbamazepine and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin, and related phenotypes are nervous system and growth/size/body region
Related ID:
MESH:D004916

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
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17
183
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Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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