Conditions / Genetic
Stormorken syndrome
info · Genetic
A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an au
A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Anemia
- Miosis
- Increased circulating lactate dehydrogenase concentration
- Deeply set eye
- Prominent nose
- Stroke-like episode
- Thrombocytopenia
- Ichthyosis
- Migraine
Also known as: thrombocytopathy, asplenia and miosis