Gray Platelet Syndrome

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OMIM 57 139090 Disease Ontology 12 DOID:0111044 ICD10 33 D69.1 MeSH 44 D055652 Orphanet 59 ORPHA721 MESH via Orphanet 45 D055652

UMLS via Orphanet 74 C0272302 C2717750 ICD10 via Orphanet 34 D69.1 MedGen 42 C0272302 SNOMED-CT via HPO 69 263681008 258211005 386692008 12441001 249366005 302227002 424131007 425075004 77643000 16294009 302215000 415116008 109995007 128623006 188736006 252157006 255314001 52967002 more UMLS 73 C0272302 C2717750

OMIM : ⁵⁷ 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. (139090)

MalaCards based summary : Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to glanzmann thrombasthenia and bernard-soulier syndrome. An important gene associated with Gray Platelet Syndrome is NBEAL2 (Neurobeachin Like 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. Affiliated tissues include neutrophil, bone and bone marrow, and related phenotypes are splenomegaly and myelodysplasia

Disease Ontology : ¹² An inherited blood coagulation 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.

Genetics Home Reference : ²⁵ Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.

NIH Rare Diseases : ⁵³ Gray plateletsyndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner. 

UniProtKB/Swiss-Prot : ⁷⁵ Gray platelet syndrome: A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.

Wikipedia : ⁷⁶ Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Clinical features from OMIM:

139090

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Search GEO for disease gene expression data for Gray Platelet Syndrome.