eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | stormorken syndrome |
| Comorbidity | C0026848|myopathy |
| Sentences | 1 |
| PubMedID- 24591628 | Here, we identify gain-of-function mutations in the cytoplasmic domain of stim1 (p.r304w) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with stormorken syndrome, and in orai1 (p.p245l), associated with a stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities. |
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