Details of Disease

General Information of Disease (ID: DIS9US3H)

• Disease Name: Stormorken syndrome
• Synonyms: Thrombocytopathy, asplenia, and miosis; STRMK; york Platelet syndrome; Thrombocytopathy asplenia miosis; Stormorken-Sjaastad-Langslet syndrome; Thrombocytopathy-asplenia-miosis syndrome; Stormorken syndrome; thrombocytopathy, asplenia and miosis
• Definition: 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.
• Disease Hierarchy:
  DISFXMTP: Syndromic constitutional thrombocytopenia
  DIS9US3H: Stormorken syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008497
  MESH ID: C566108
  UMLS CUI: C1861451
  OMIM ID: 185070
  MedGen ID: 350028
  Orphanet ID: 3204
  SNOMED CT ID: 711407000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ORAI1	TTE76YK	Supportive	Autosomal dominant	[1]
ORAI1	TTE76YK	moderate	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ORAI1	OT2VE9UU	Supportive	Autosomal dominant	[1]
STIM1	OT8CLQ1W	Supportive	Autosomal dominant	[1]
CASQ1	OTAY8WOO	moderate	Biomarker	[3]

References

• [1] Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3.
• [2] CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs.Cell Calcium. 2019 Jun;80:112-116. doi: 10.1016/j.ceca.2019.03.004. Epub 2019 Mar 11.
• [3] Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.Cell Calcium. 2018 Dec;76:1-9. doi: 10.1016/j.ceca.2018.07.008. Epub 2018 Sep 3.