|
FEPS3
MCID: EPS028
MIFTS: 40
|
Episodic Pain Syndrome, Familial, 3 (FEPS3)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Episodic Pain Syndrome, Familial, 3:
Characteristics:Orphanet epidemiological data:58
familial episodic pain syndrome with predominantly lower limb involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in early childhood two unrelated chinese families have been reported (last curated november 2013) pain is noted to feel cold episodes are triggered by fatigue, illness, or strenuous exercise pain is relieved by antiinflammatory medication pain tends to occur later in the day episodes tend to decrease with age some patients may present with adult-onset small fiber neuropathy HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare neurological diseases |
|
OMIM :
56
Familial episodic pain syndrome 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). (615552)
MalaCards based summary : Episodic Pain Syndrome, Familial, 3, also known as feps3, is related to familial episodic pain syndrome and triiodothyronine receptor auxiliary protein. An important gene associated with Episodic Pain Syndrome, Familial, 3 is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Related phenotypes are abnormal autonomic nervous system physiology and pain Disease Ontology : 12 A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has material basis in heterozygous mutation in the SCN11A gene on chromosome 3p22. UniProtKB/Swiss-Prot : 73 Episodic pain syndrome, familial, 3: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. |
Human phenotypes related to Episodic Pain Syndrome, Familial, 3:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615552 |
|
|
Articles related to Episodic Pain Syndrome, Familial, 3:(show all 23)
|
Genes related to Episodic Pain Syndrome, Familial, 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Episodic Pain Syndrome, Familial, 3:6 (show top 50) (show all 315)
UniProtKB/Swiss-Prot genetic disease variations for Episodic Pain Syndrome, Familial, 3:73
|
|
Search
GEO
for disease gene expression data for Episodic Pain Syndrome, Familial, 3.
|
Pathways related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:
|
Cellular components related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:
Biological processes related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:
Molecular functions related to Episodic Pain Syndrome, Familial, 3 according to GeneCards Suite gene sharing:
|
|