Bernard-Soulier Syndrome (BSS)
Breed: English Cocker Spaniel
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
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
TBC
Mutation
TBC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
TBC
Mutation
TBC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
TBC
Mutation
TBC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
TBC
Mutation
TBC
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
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
TBC
Mutation
TBC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
TBC
Mutation
TBC
Genefast s.r.l. (Laboratorio Genefast)
GTP
GTP Name
Genefast s.r.l. (Laboratorio Genefast)
Breed
OMIA
Gene Name
TBC
Mutation
TBC
Nature of test
mutation test
Inheritance
AR
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
TBC
Mutation
TBC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
TBC
Mutation
TBC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
TBC
Mutation
TBC
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
TBC
Mutation
TBC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA