Erythermalgia, Primary (PERYTHM)

Alias:
Small Fiber Neuropathy
Primary Erythromelalgia
Primary Erythermalgia
Erythromelalgia, Primary
Small Nerve Fiber Neuropathy
Erythromelalgia, Familial
Perythm
Sfnp
Sfn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Erythermalgia, Primary, also known as small fiber neuropathy, is related to sodium channelopathy-related small fiber neuropathy and neuropathy, and has symptoms including constipation, diarrhea and pruritus. An important gene associated with Erythermalgia, Primary is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Antibodies, Blocking and Lacosamide have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin, and related phenotypes are peripheral neuropathy and erythema

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
1-9/100000
3
41
32

Medical Symptom

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

Gene & Mutation

#
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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