Stormorken syndrome

Definition:

Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil 1 domain, which might play a role in keeping STIM1 inactive. STIM1 encodes a major calcium sensor of the endoplasmic reticulum.

References:

[1]. Doriana Misceo, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat. 2014 May;35(5):556-64. [Content Brief]

[2]. Vasyl Nesin, et al. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. [Content Brief]

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