Glanzmann Thrombasthenia Type I
Breed: Pyrenean Mountain Dog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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 for these breeds
General
Disease Name
Glanzmann Thrombasthenia Type I
OMIA
1000
Gene Name
ITGA2B
Mutation
c.1373 ins14bp
Mutation 2
c.1193G>C
Test Type
Genetic Disease/Disorder
Details
Glanzmann Thrombasthenia Great Pyrenees type (GT) is a form of thrombasthenia, a bleeding disorder caused by a disfunction in blood clotting. GT can be divided into three groups, type I, type II and variant GT. Type I is "severe", Type II "moderate" and variant being relatively normal, but with reduced function in clotting. Symptoms can include: prolonged bleeding time, severe bruising, red or purple spots under the skin, nose bleeds, bleeding gums, and pin-prick blood spots on the abdomen. Age of initial onset, from birth. Affected dog appears to be smaller than breed average. The dog will have also prolonged clotting times post-operatively.
Details 2
Glanzmann Thrombasthenia Great Pyrenees type (GT) is a form of thrombasthenia, a bleeding disorder caused by a disfunction in blood clotting. GT can be divided into three groups, type I, type II and variant GT. Type I is characterized by severe quantitative deficiency, type II by moderate quantitative deficiency and variant by relatively normal quantity but reduced function.The disorder in dogs is characterized by prolonged bleeding time and formation of hematomas at sites of injury. Other manifestation of the disease includes purpura, epistaxis, gingival hemorrhae, petechial hemorrhages on buccal mucosa and sporadically on the abdomen. Epistaxis and melena are common among affected dogs. Age of initial onset, from birth. Affected dog appears to be smaller than breed average. The dog will have also prolonged clotting times post-operatively.
Published
Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a splicing defect of intron 13 Veterinary Pathology 37:581-588, 2000. Pubmed reference: 11105947.
Published 2
Boudreaux, M.K., Catalfamo, J.L. : Molecular and genetic basis for thrombasthenic thrombopathia in otterhounds American Journal of Veterinary Research 62:1797-1804, 2001. Pubmed reference: 11703027.
Body/System/Process
Blood
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Great Pyrenees
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Glanzmann's Thrombasthenia (Great Pyrenees Type)
Gene Name
ITGA2B
Mutation
c.1373 ins14bp
Nature of test
mutation test
GTP- or Breed-Specific Publications
Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a spli
Application in the Breed
Carriers may be bred to normal animals (N/gt x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gt x N/gt) nor of affected animals (gt/gt)
Inheritance
AR
FCI Number
137
GTP Breed
Pyrenean mountain dog
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1373 ins14bp
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Glanzmann's Thrombasthenia (Great Pyrenees Type)
Gene Name
ITGA2B
Mutation
c.1373 ins14bp
Nature of test
mutation test
GTP- or Breed-Specific Publications
Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a spli
Application in the Breed
Carriers may be bred to normal animals (N/gt x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gt x N/gt) nor of affected animals (gt/gt)
Inheritance
AR
FCI Number
137
GTP Breed
Pyrenean mountain dog
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Glanzmann's Thrombasthenia (Great Pyrenees Type)
Gene Name
ITGA2B
Mutation
c.1373 ins14bp; c.1193G>C
Nature of test
mutation test
FCI Number
137
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1360_1373dup
Mutation Comment
g.19057144_19057157dup
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Glanzmann's Thrombasthenia (Great Pyrenees Type)
Gene Name
ITGA2B
Mutation
c.1373 ins14bp
Nature of test
mutation test
GTP- or Breed-Specific Publications
Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a spli
Application in the Breed
Carriers may be bred to normal animals (N/gt x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gt x N/gt) nor of affected animals (gt/gt)
Inheritance
AR
FCI Number
137
GTP Breed
Pyrenean mountain dog
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ITGA2B
Mutation
c.1193G>C; c.1373 ins14bp