Agent Commons Collaborative Research
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
rareA 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.
- Identifiers
- MONDO:0013999 OMIM:614979Orphanet:313800
- 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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