Gray platelet syndrome

Preferred Label : Gray platelet syndrome;

Symbol : GPS;

CISMeF acronym : BDPLT4; GPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder, platelet-type, 4; BDPLT4; Platelet alpha-granule deficiency;

Description : The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007). Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neurobeachin-like 2 gene (NBEAL2, 614169.0001).;

Laboratory abnormalities : Low-to-normal platelet count; Median mean platelet volume 13fl; Prolonged bleeding time (10 - 30 minutes); Increased serum vitamin B12; Reduced platelet aggregation response to collagen and thrombin; Platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy; Decreased von Willebrand factor; Decreased platelet factor 4; Decreased beta-thromboglobulin; Decreased thrombospondin; Decreased fibrinogen; Decreased platelet derived growth factor; Decreased fibronectin; Normal platelet aggregation response to arachidonic acid (AA);

Prefixed ID : #139090;

Details

Origin ID

139090;

UMLS CUI

C0272302;

Automatic exact mappings (from CISMeF team)
- CDC42 wt Allele [NCIt concept]
- Cell Division Control Protein 42 Homolog [NCIt concept]
- global positioning system [COVID-19 Thesaurus concept]
- global positioning systems [MeSH concept]
Currated CISMeF NLP mapping
- Gray Platelet Syndrome [NCIt concept]
- Gray platelet syndrome [ICD-11 More detail]
- Gray platelet syndrome [ORDO Disease]
- Gray platelet syndrome (disorder) [SNOMED CT concept]
- gray platelet syndrome [DO Concept]
- gray platelet syndrome [Disease (Nov.)]
- gray platelet syndrome [MeSH Descriptor]
- gray platelet syndrome [MeSH concept]
- gray platelet syndrome [SNOMED Notion]
DO Cross reference
- gray platelet syndrome [DO Concept]
False automatic mappings
- Guadeloupe [NCIt concept]
Genes related to phenotype
- Neurobeachin-like 2 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal number of alpha granules [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Impaired thrombin-induced platelet aggregation [HPO term]
- Menorrhagia [HPO term]
- Myelofibrosis [HPO term]
- Progressive [HPO term]
- Prolonged bleeding time [HPO term]
- Reduced quantity of Von Willebrand factor [HPO term]
- Reduced von Willebrand factor activity [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Gray platelet syndrome [ORDO Disease]
See also inter- (CISMeF)
- platelet-type bleeding disorder 17 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gray Platelet Syndrome [NCIt concept]
- Gray platelet syndrome [ICD-11 More detail]
- Gray platelet syndrome [ORDO Disease]
- Gray platelet syndrome (disorder) [SNOMED CT concept]
- gray platelet syndrome [SNOMED Notion]
- gray platelet syndrome [MeSH Descriptor]
- gray platelet syndrome [MeSH concept]
- gray platelet syndrome [DO Concept]
- gray platelet syndrome [Disease (Nov.)]
- platelet-type bleeding disorder 17 [DO Concept]
Validated automatic mappings to NTBT
- Alpha-granule diseases [ICD-11 Sub-sub category]
- platelet alpha-Granule deficiency [MeSH concept]

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