familial episodic pain syndrome with predominantly lower limb involvement
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0018319
familial episodic pain syndrome
is_a
FEPS3
related
episodic pain syndrome, familial, 3
related
episodic pain syndrome, familial, type 3
exact