Bernard-Soulier Syndrome (BSS)
Breed: Cockapoo
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Bernard-Soulier Syndrome (BSS)
OMIA
2207
Gene Name
GP9
Mutation
the mutation will be presented in a future publication
Test Type
Genetic Disease/Disorder
Details
Bernard-Soulier syndrome (BSS): BSS is an autosomic recessive hereditary bleeding diatesis. The disease is currently considered rare, but may be frequently overlooked or misdiagnosed. Clinical signs include a lower than normal platelet count, platelets larger than average, and have an inherent defect which prevents plug formation leading to excessive bleeding. Owners have reported mucosal bleeding with unresponsive nose bleeding, melena, and blood in the urine. BSS may be life-threatening in certain situations, such as whelping or in cases of traumatic events or surgery. Laboratory exams may reveal a mild thrombocytopenia with ?giant platelets? (increased Mean Platelet Volume, MPV). BSS may easily be misdiagnosed with other platelet disorders, such as idiopathic or secondary immuno-mediated thrombocytopenia(IMT). (Edited from Genefast) This test may be useful both for diagnosis of BSS, and as a preventative measure to be used in breeding plans.
Published
TBC
Body/System/Process
Blood
OMIA Url
Inheritance
AR
Phene Discovery
An international collaborative research group made up of researchers from the University of Bologna, the University of Bern (Switzerland), Clinica Veterinaria San Marco of Padova and Genefast
Breed Specific Info
Researched Breeds
Cocker Spaniel
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
BSS
Gene Name
GP9
Mutation
c.127_*2052del
Mutation Comment
g.3025814_3028273del