Stormorken Syndrome (STRMK)

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OMIM 57 185070 Disease Ontology 12 DOID:0060354 MeSH 44 C566108 D001791 D007057 D015877 D020914 more Orphanet 59 ORPHA3204 UMLS via Orphanet 74 C1861451

ICD10 via Orphanet 34 D69.8 MedGen 42 C1861451 C1850709 SNOMED-CT via HPO 69 263681008 12441001 249366005 249311009 246923005 80093006 44593008 63251006 12393003 387778001 423902002 702624008 707147002 93030006 127566005 32942005 302215000 415116008 248250000 64779008 165397008 271737000 362970003 37796009 129565002 68962001 252157006 255314001 249939004 80449002 237836003 52824009 59770006 9236007 more UMLS 73 C1861451 C0026205

Genetics Home Reference : ²⁵ Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cell fragments called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).

MalaCards based summary : Stormorken Syndrome, also known as thrombocytopathy, asplenia, and miosis, is related to myopathy, tubular aggregate, 1 and isochromosome yp, and has symptoms including myalgia, headache and mydriasis. An important gene associated with Stormorken Syndrome is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cardiac conduction. Affiliated tissues include eye, skin and spleen, and related phenotypes are neurological speech impairment and short stature

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3204Disease definitionStormorken-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 dominanttrait.Visit the Orphanet disease page for more resources.

OMIM : ⁵⁷ Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014). (185070)

UniProtKB/Swiss-Prot : ⁷⁵ Stormorken syndrome: A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.

Clinical features from OMIM:

185070

Search Clinical Trials , NIH Clinical Center for Stormorken Syndrome

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Search GEO for disease gene expression data for Stormorken Syndrome.