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STRMK
MCID: STR081
MIFTS: 55
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Stormorken Syndrome (STRMK)
Categories:
Blood diseases, Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Stormorken Syndrome:
Characteristics:Inheritance:
Stormorken Syndrome:
Autosomal dominant 57
Stormorken-Sjaastad-Langslet Syndrome:
Autosomal dominant 58
Prevelance:
Stormorken-Sjaastad-Langslet Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Stormorken-Sjaastad-Langslet Syndrome:
All ages 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder onset of bleeding symptoms in childhood or young adulthood HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Blood diseases Muscle diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare haematological diseases External Ids:
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MedlinePlus Genetics: 42 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 cells 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 thrombocytopenia, 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, spleen and skin, and related phenotypes are neurological speech impairment and short stature 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) (Updated 08-Dec-2022) Disease Ontology: 11 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. GARD: 19 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. Orphanet: 58 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. UniProtKB/Swiss-Prot: 73 A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. |
Human phenotypes related to Stormorken Syndrome:58 30 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:185070 (Updated 08-Dec-2022)UMLS symptoms related to Stormorken Syndrome:myalgia; headache; mydriasis; tonic pupil MGI Mouse Phenotypes related to Stormorken Syndrome:45
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Interventional clinical trials:
Inferred drug relations via UMLS 71 / NDF-RT 50 :
Cochrane evidence based reviews: stormorken syndrome |
Organs/tissues related to Stormorken Syndrome:
MalaCards :
Eye,
Spleen,
Skin,
Bone Marrow,
Bone,
Skeletal Muscle
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Articles related to Stormorken Syndrome:(show all 49)
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Genes related to Stormorken Syndrome (2 elite genes):(show all 23) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Stormorken Syndrome:5 (show top 50) (show all 421)
UniProtKB/Swiss-Prot genetic disease variations for Stormorken Syndrome:73
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Search
GEO
for disease gene expression data for Stormorken Syndrome.
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Pathways related to Stormorken Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Stormorken Syndrome according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Stormorken Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Stormorken Syndrome according to GeneCards Suite gene sharing:
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