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platelet-type bleeding disorder 17
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.
Uniprot Description An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material basis in heterozygous mutation in the GFI1B gene on chromosome 9q34.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111049
MESH:C566060
NCIT:C142084
OMIM:187900
MONDO:0008553
High level summary of knowledge for a disease, including descriptions and datasource references.