Stormorken Syndrome (STRMK)

Stormorken Syndrome, also known as thrombocytopathy, asplenia, and miosis, is related to myopathy, tubular aggregate, 1 and immunodeficiency 10, and has symptoms including mydriasis, tonic pupil and headache. An important gene associated with Stormorken Syndrome is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cardiac conduction. Affiliated tissues include eye and spleen, and related phenotypes are short stature and ichthyosis