Macrothrombocytopenia with absent platelet alpha-granules.
- Specialty
- Hematology
- Subspecialty
- Hematology / Platelet disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- GFI1B, NBEAL2
- Alternative names & eponyms
- Alpha-granule deficiency
Etiology & mechanism
Defective alpha granule biogenesis.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Gray platelet syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Sebastian syndrome
macrothrombocytopenia, mild bleeding
1 shared
Autoimmune lymphoproliferative syndrome
splenomegaly
1 shared
Epstein syndrome
macrothrombocytopenia
1 shared
Evans syndrome
splenomegaly
1 shared
Fechtner syndrome
macrothrombocytopenia
1 shared
Felty syndrome
splenomegaly
1 shared
Hemophagocytic lymphohistiocytosis
splenomegaly
Shares genes with
None.
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