loading...| Preferred Name |
Gray platelet syndrome |
|
| Synonyms |
Alpha storage pool deficiency |
|
| Definitions |
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_721 |
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| alternative_term |
Alpha storage pool deficiency Platelet alpha-granule deficiency GPS |
|
| definition |
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 |
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| has_age_of_onset |
Childhood |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
OMIM:187900 MeSH:D055652 ICD-11:3B62.00 ICD-10:D69.1 UMLS:C0272302 OMIM:139090 |
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| label |
Gray platelet syndrome |
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| notation |
ORPHA:721 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_721 |
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| prefLabel |
Gray platelet syndrome |
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| present_in |
Worldwide AND has_cases/families_value : 60.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView | ||
| subClassOf |