Gray Platelet Syndrome (GPS)

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Disease Ontology 12 DOID:0111044 OMIM® 57 139090 OMIM Phenotypic Series 57 PS231200 KEGG 36 H02097 MeSH 44 D055652 NCIt 50 C84741 SNOMED-CT 67 51720005 ICD10 32 D69.1

MESH via Orphanet 45 D055652 ICD10 via Orphanet 33 D69.1 UMLS via Orphanet 71 C0272302 C2717750 Orphanet 58 ORPHA721 MedGen 41 C0272302 SNOMED-CT via HPO 68 109995007 12441001 128623006 16294009 188736006 249366005 252157006 255314001 258211005 302215000 302227002 386692008 415116008 424131007 425075004 52967002 77643000 more UMLS 70 C0272302 C2717750

MedlinePlus Genetics : ⁴³ Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells 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.A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).

MalaCards based summary : Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bernard-soulier syndrome and storage pool platelet disease. 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 bone, bone marrow and spleen, and related phenotypes are thrombocytopenia and bruising susceptibility

Disease Ontology : ¹² 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.

GARD : ²⁰ Gray platelet syndrome (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.

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) (Updated 05-Apr-2021)

KEGG : ³⁶ Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on the absence of platelet alpha-granules as observed by an electron microscope. Analysis of platelet contents in GPS demonstrates significantly decreased levels of several alpha-granule proteins, including (among others) fibrinogen, von Willebrand factor (VWF), thrombospondin, and factor V. While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant alpha-granule deficiencies in platelets.

UniProtKB/Swiss-Prot : ⁷² 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 : ⁷³ Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Clinical features from OMIM®:

139090 (Updated 05-Apr-2021)

Search NIH Clinical Center for Gray Platelet Syndrome

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