Gray Platelet Syndrome (GPS)

Gray Platelet Syndrome(来自ICD-11)
别称:
Platelet Alpha-Granule Deficiency
Gps
Bdplt4
Bleeding Disorder, Platelet-Type, 4
Alpha Storage Pool Deficiency
Grey Platelet Syndrome
Platelet-Type Bleeding Disorder 4
Platelet Alpha Granule Deficiency
Bleeding Disorder Platelet-Type 4
Deficient Alpha Granule Syndrome
Platelet Granule Defect
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bleeding disorder, platelet-type, 17 and myelofibrosis. 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 Diseases of hemostasis. Affiliated tissues include bone marrow and bone, and related phenotypes are thrombocytopenia and abnormality of thrombocytes
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参考文献
MALACARDS
AR
AD
Child
<1/1000000
20
214
23

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