# gray platelet syndrome

> rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets

**Wikidata**: [Q5598273](https://www.wikidata.org/wiki/Q5598273)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Gray_platelet_syndrome)  
**Source**: https://4ort.xyz/entity/gray-platelet-syndrome


## References

1. Disease Ontology
2. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
3. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
4. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)