gray platelet syndrome

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease blood platelet disease
Disease Ontology
DOID:0111044
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23218 NBEAL2 neurobeachin like 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024