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GTR Home > Conditions/Phenotypes > Platelet-type bleeding disorder 8

Platelet-type bleeding disorder 8

Synonyms
BLEEDING DISORDER DUE TO P2RY12 DEFECT; Bleeding disorder due to p2rx1 defect, somatic
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Platelet-type bleeding disorder-8 (BDPLT8) is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011). [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADPG-R, BDPLT8, HORK3, P2T(AC), P2Y(12)R, P2Y(AC), P2Y(ADP), P2Y(cyc), P2Y12, SP1999, P2RY12
    Summary: purinergic receptor P2Y12

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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