Sodium channelopathy-related small fiber neuropathy

General Information (adopted from Orphanet):

Synonyms, Signs: ERYTHROMELALGIA, PRIMARY
ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER, INCLUDED
SFNP, INCLUDED
Number of Symptoms 20
OrphanetNr: 306577
OMIM Id: 133020
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000217) Xerostomia 35 / 7739
2
(HPO:0001097) Keratoconjunctivitis sicca 25 / 7739
3
(HPO:0000622) Blurred vision 14 / 7739
4
(HPO:0012531) Pain 9 / 7739
5
(HPO:0002459) Dysautonomia rare [HPO:skoehler] 34 / 7739
6
(HPO:0002019) Constipation 194 / 7739
7
(HPO:0002014) Diarrhea 225 / 7739
8
(HPO:0000975) Hyperhidrosis 64 / 7739
9
(HPO:0001962) Palpitations 62 / 7739
10
(HPO:0003011) Abnormality of the musculature 47 / 7739
11
(HPO:0003326) Myalgia 143 / 7739
12
(OMIM) Reddish or purplish skin discoloration, episodic, associated with pain 2 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Decreased intraepithelial nerve fiber density 2 / 7739
15
(OMIM) Jaw pain 2 / 7739
16
(OMIM) Autonomic symptoms 6 / 7739
17
(HPO:0003621) Juvenile onset 105 / 7739
18
(OMIM) Impaired distal temperature sensation 2 / 7739
19
(OMIM) Burning pain, episodic, typically in the distal extremities, particularly the hands and feet (bilateral, symmetric), triggered by warm stimuli, exercise, standing 2 / 7739
20
(OMIM) Swelling of the affected areas 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained ...
Clinical Description OMIM Mandell et al. (1977) reported a child with primary erythermalgia with onset at age 3 years.

Finley et al. (1988) described a family in which autosomal dominant inheritance of primary erythermalgia was supported by the fact ...

Molecular genetics OMIM In affected members of a Chinese family with primary erythermalgia linked to chromosome 2q and in a sporadic patient, Yang et al. (2004) identified mutations in the SCN9A gene (L858H, 603415.0001; I848T, 603415.0002).

In 5 affected ...