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Familial episodic pain syndrome with predominantly lower limb involvement(FEPS3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Episodic pain syndrome, familial, 3
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): SCN11A (3p22.2)
Monarch Initiative: MONDO:0014247
OMIM®: 615552
Orphanet: ORPHA391392


Familial episodic pain syndrome-3 (FEPS3) is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013). For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (615040). [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
Sign or Symptom
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Abnormal autonomic nervous system physiology
MedGen UID:
Concept ID:
Disease or Syndrome
A functional abnormality of the autonomic nervous system.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial episodic pain syndrome with predominantly lower limb involvement
Follow this link to review classifications for Familial episodic pain syndrome with predominantly lower limb involvement in Orphanet.

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