loading...| Preferred Name |
EPISODIC PAIN SYNDROME, FAMILIAL, 3 |
| Synonyms |
FEPS3 |
| ID |
http://purl.bioontology.org/ontology/OMIM/615552 |
| altLabel |
FEPS3 |
| cui |
C3809899 |
| Gene Locus |
3p22.2 |
| Gene Symbol |
HSAN7 FEPS3 SCN11A |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU046791 http://purl.bioontology.org/ontology/OMIM/MTHU046790 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
615552 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EPISODIC PAIN SYNDROME, FAMILIAL, 3 |
| Scope Statement |
Two unrelated Chinese families have been reported (last curated November 2013) [MISCELLANEOUS] Some patients may present with adult-onset small fiber neuropathy [MISCELLANEOUS] Pain tends to occur later in the day [MISCELLANEOUS] Caused by mutation in the voltage-gated sodium channel, type XI, alpha subunit gene (SCN11A, 604385.0002) [MOLECULAR BASIS] Onset in early childhood [MISCELLANEOUS] Pain is noted to feel cold [MISCELLANEOUS] Pain is relieved by antiinflammatory medication [MISCELLANEOUS] Episodes are triggered by fatigue, illness, or strenuous exercise [MISCELLANEOUS] Episodes tend to decrease with age [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125390 | National Cancer Institute Thesaurus / 美国国家癌症研究所词典 | LOOM |