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Gray platelet syndrome

Synonyms
BLEEDING DISORDER, PLATELET-TYPE, 4; Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins; Platelet alpha-granule deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

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. [from OMIM]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT4, GPS, NBEAL2
    Summary: neurobeachin like 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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