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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gray platelet syndrome


Other Names for this Disease

  • GPS
  • Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
  • Platelet alpha-granule deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of gray platelet syndrome (GPS)?

Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding.[1]
Last updated: 10/3/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Gray platelet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of coagulation 90%
Bruising susceptibility 90%
Thrombocytopenia 90%
Abnormality of the menstrual cycle 50%
Epistaxis 50%
Myelodysplasia 50%
Splenomegaly 50%
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Bruising susceptibility -
Epistaxis -
Impaired collagen-induced platelet aggregation -
Impaired thrombin-induced platelet aggregation -
Menorrhagia -
Myelofibrosis -
Progressive disorder -
Prolonged bleeding time -
Reduced quantity of Von Willebrand factor -
Reduced von Willebrand factor activity -
Splenomegaly -
Thrombocytopenia -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Gunay-Aygun M & Gahl WA. Gray platelet syndrome. Orphanet. June 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=721. Accessed 10/3/2011.


Other Names for this Disease
  • GPS
  • Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
  • Platelet alpha-granule deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.