Stormorken syndrome

Preferred Label : Stormorken syndrome;

Symbol : STRMK;

CISMeF acronym : STRMK; YPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : York platelet syndrome; Thrombocytopathy, asplenia, and miosis; YPS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the stromal interaction molecule 1 gene (STIM1, 605921.0008);

Laboratory abnormalities : Increased serum creatine kinase; Decreased serum calcium;

Prefixed ID : #185070;

Détails

Origin ID

185070;

UMLS CUI

C1861451;

Automatic exact mappings (from CISMeF team)
- Stormorken-Sjaastad-Langslet syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Stormorken syndrome [DO Concept]
- Stormorken-Sjaastad-Langslet syndrome [ORDO Disease]
- Thrombocytopathy, asplenia and miosis (disorder) [SNOMED CT concept]
- stormorken syndrome [MeSH concept]
- stormorken syndrome [MeSH Supplementary Concept]
DO Cross reference
- Stormorken syndrome [DO Concept]
Genes related to phenotype
- Stromal interaction molecule 1 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Anemia [HPO term]
- Asplenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Deeply set eye [HPO term]
- Dyslexia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Epistaxis [HPO term]
- Howell-Jolly bodies [HPO term]
- Hypotelorism [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Increased muscle fatiguability [HPO term]
- Migraine [HPO term]
- Miosis [HPO term]
- Myalgia [HPO term]
- Myopathy [HPO term]
- Progressive [HPO term]
- Prominent nose [HPO term]
- Proximal muscle weakness [HPO term]
- Short stature [HPO term]
- Stroke-like episode [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Stormorken-Sjaastad-Langslet syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stormorken syndrome [DO Concept]
- Stormorken-Sjaastad-Langslet syndrome [ORDO Disease]
- Thrombocytopathy, asplenia and miosis (disorder) [SNOMED CT concept]
- stormorken syndrome [MeSH Supplementary Concept]
- stormorken syndrome [MeSH concept]

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