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familial episodic pain syndrome with predominantly lower limb involvement

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014247:  familial episodic pain syndrome with predominantly lower limb involvement
NCIT:C125390: 
Orphanet:391392: 
UMLS:C3809899: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found