Hematology · Hematology / Platelet disorders
Stormorken syndrome
also: Thrombocytopathy with miosis and tubular aggregate myopathy
Thrombocytopenia with miosis and myopathy.
- Specialty
- Hematology
- Subspecialty
- Hematology / Platelet disorders
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- ORAI1, STIM1
- Alternative names & eponyms
- Thrombocytopathy with miosis and tubular aggregate myopathy
Etiology & mechanism
Gain-of-function STIM1 or ORAI1.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Stormorken syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Bartter syndrome
muscle weakness
1 shared
Camurati–Engelmann syndrome
muscle weakness
1 shared
Cardio-facio-cutaneous syndrome
ichthyosis
1 shared
Chanarin–Dorfman syndrome
ichthyosis
1 shared
Chediak–Higashi syndrome
bleeding
1 shared
Conn syndrome
muscle weakness
1 shared
Dengue shock syndrome
bleeding
1 shared
Disseminated intravascular coagulation syndrome
bleeding
1 shared
EAST syndrome
muscle weakness
1 shared
Epstein syndrome
bleeding
Shares genes with
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