Stormorken syndrome

Also known as: Thrombocytopathy with miosis and tubular aggregate myopathy

Thrombocytopenia with miosis and myopathy.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: ORAI1, STIM1

Etiology & mechanism

Gain-of-function STIM1 or ORAI1.

Gene(s) involved (2)

ORAI1STIM1

Symptoms & signs (5)

aspleniableedingichthyosismiosismuscle weakness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.