" /> Stormorken syndrome - CISMeF





Preferred Label : Stormorken syndrome;

Symbol : STRMK;

CISMeF acronym : STRMK; YPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : York platelet syndrome; Thrombocytopathy, asplenia, and miosis; YPS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the stromal interaction molecule 1 gene (STIM1, 605921.0008);

Laboratory abnormalities : Increased serum creatine kinase; Decreased serum calcium;

Prefixed ID : #185070;

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28/07/2025


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