Bleeding Disorder, Platelet-Type, 11 (BDPLT11)

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Disease Ontology 12 DOID:0111057 OMIM 58 614201 MeSH 45 D001791 D006470 ICD10 34 D69.8 ICD10 via Orphanet 35 D69.8

Orphanet 60 ORPHA73271 ORPHA98885 MedGen 43 C3280120 SNOMED-CT via HPO 70 12441001 249366005 258211005 302227002 386692008 424131007 425075004 77643000 more UMLS 74 C0019080 C3280120

Genetics Home Reference : ²⁶ Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).

MalaCards based summary : Bleeding Disorder, Platelet-Type, 11, also known as glycoprotein vi deficiency, is related to von willebrand disease, type 2 and thrombocytopenia due to platelet alloimmunization, and has symptoms including muscle weakness, nausea and vomiting and constipation. An important gene associated with Bleeding Disorder, Platelet-Type, 11 is GP6 (Glycoprotein VI Platelet), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Development Angiotensin activation of ERK. Affiliated tissues include liver, brain and kidney, and related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : ¹² An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material basis in compound heterozygous mutation in the GP6 gene on chromosome 19q13.

NIH Rare Diseases : ⁵⁴ Glycoprotein VI deficiency is a rare condition that decreases the body's ability to form blood clots. As a result, affected people may experience frequent nosebleeds and abnormally heavy or prolonged bleeding following minor injury or surgery. Women with the condition often have heavy or prolonged menstrual periods. Glycoprotein VI deficiency can be caused by changes (mutations) in the GP6 gene and is inherited in an autosomal recessive manner. Some cases appear to be acquired (not caused by inherited gene mutations) and are often associated with autoimmune conditions. Treatment varies based on the severity of the condition and the associated signs and symptoms.

OMIM : ⁵⁸ Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009). (614201)

UniProtKB/Swiss-Prot : ⁷⁶ Bleeding disorder, platelet-type 11: A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.

Clinical features from OMIM:

614201

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 11

6-aminocaproic acid aprotinin cellulose, oxidized desmopressin desmopressin acetate fibrinogen fibrinogen,i-125

mesna protamine sulfate (usp) silver nitrate silver nitrate crystals thrombin von willebrand factor von willebrand factor,recombinant

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 11.