EPISODIC PAIN SYNDROME, FAMILIAL, 3

General Information (adopted from Orphanet):

Synonyms, Signs: FEPS3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 615552
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002459) Dysautonomia variable [HPO:skoehler] 34 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Other sensory modalities are normal 1 / 7739
4
(OMIM) Hyperhidrosis occurs during pain episodes 1 / 7739
5
(OMIM) Pain, episodic, localized mainly to the distal lower extremities although occasionally occurs in the distal upper extremities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zhang et al. (2013) reported 2 unrelated large multigenerational Chinese families with a similar episodic pain syndrome with onset in early childhood. Intense pain was localized primarily to the distal lower extremities and occasionally in the upper body, ...
Molecular genetics OMIM In 2 unrelated Chinese families with autosomal dominant familial episodic pain syndrome-3, Zhang et al. (2013) identified 2 different missense mutations in the SCN11A gene (R225C, 604385.0002; A808G, 604385.0003). The mutation in the first family was found by ...