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Leukocyte Adhesion Deficiency III (LAD3)
Breed: German Shepherd Dog/ Double coat
Generic Phene Data
Breeds
Relevance Rating: There is some 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 for these breeds
General
Disease Name
Leukocyte Adhesion Deficiency III (LAD3)
OMIA
1525
Gene Name
FERMT3
Gene Name 2
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Mutation 2
c.1358_1359insAAGACGGCTGCC
Test Type
Genetic Disease/Disorder
Details
Leukocyte Adhesion Deficiency III (LAD3) is considered a rare disease. Symptoms include: increased risk of infections, fever, lameness, and abnormal bleeding, including hemorrhage.
Details 2
Leucocyte adhesion deficiencies are inherited disorders characterised by immunodeficiency leading to recurrent infections and a marked leucocytosis. We describe the clinical characteristics... dog was investigated for pyrexia, persistent leucocytosis, marked periodontal disease, lameness, increased mucosal haemorrhages and poor wound healing. Numerous diagnostics were performed including a leucocyte adhesion deficiency III PCR test, which was positive... Leucocyte adhesion deficiency III is a rare disorder that manifests because of impaired activation of beta integrins. This results in an absence of neutrophil chemotaxis and adhesion, and platelet dysfunction... (From Hugo and Heading, 2014)
Published
Boudreaux, Mary K., et al. "A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections." Thrombosis and haemostasis 103.2 (2010): 475-477.
Published 2
Hugo, T.B., Heading, K.L. : Leucocyte adhesion deficiency III in a mixed-breed dog. Aust Vet J 92:299-302, 2014. Pubmed reference: 24954630. DOI: 10.1111/avj.12206.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type III
GTP Disease Synonym
Leukocyte/Platelet Adhesion Defect
Gene Name
FERMT3
Mutation
c.1358_1359insAAGACGGCTGCC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
LAD3
Gene Name
FERMT3
Mutation
c.1349_1350insAAGACGGCTGCC
Mutation Comment
g.52835932_52835933insGGCAGCCGTCTT
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type III
GTP Disease Synonym
Leukocyte/Platelet Adhesion Defect
Gene Name
FERMT3
Mutation
Insertion
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type III
Gene Name
FERMT3
Mutation
c.1358_1359insAAGACGGCTGCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Boudreaux MK, KJ Wardrop, V Kiklevich, P Felsburg, K Snekvik. (2010) A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections. Thromb Haemost. 103(2):475-477.
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type III
GTP Disease Synonym
Leukocyte Adhesion Deficiency III (LAD3)
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Boudreaux, Mary K., et al. "A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections." Thrombosis and haemostasis 103.2 (2010): 475-477.
Application in the Breed
Carriers may be bred to normal animals (N/lad3 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/lad3 x N/lad3) nor of affected animals (lad3/lad3). Predisposition to infection and fever, lameness, and abnormal bleeding, including hemorrhage.
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type III
Gene Name
FERMT3
Mutation
c.1358_1359insAAGACGGCTGCC
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