ROSAH syndrome

Definition:

ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ALPK1 cause ROSAH syndrome.

References:

[1]. Lloyd B Williams, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019 Sep;21(9):2103-2115. [Content Brief]

[2]. Srinivas K Tantravahi, et al. An inherited disorder with splenomegaly, cytopenias, and vision loss. Am J Med Genet A. 2012 Mar;158A(3):475-81. [Content Brief]

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