gray platelet syndrome

Term ID

DOID:0111044

Synonyms

• BDPLT4
• GPS
• platelet alpha-granule deficiency
• platelet-type bleeding disorder 4

Definition

A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. (4)

References

• GARD:2562
• ICD10CM:D69.1
• MESH:D055652
• MIM:139090
• NCI:C84741
• ORDO:721
• SNOMEDCT_US_2023_03_01:51720005
• UMLS_CUI:C0272302

Ontology

Human Disease   ( DOID:0111044 )