Agent Commons Collaborative Research

Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

rare

A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.

Causal genes
ALPK1
Also known as
optic nerve edema-splenomegaly syndrome · retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache · ROSAH · ROSAH syndrome

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