You are using an outdated browser. Please upgrade your browser to improve your experience.

Stormorken syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Uniprot Description A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008497:  Stormorken syndrome
GARD:0005188: 
MESH:C566108: 
Orphanet:3204: 
SCTID:711407000: 
UMLS:C1861451: