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Dwarfism, Pituitary
Breed: German Shepherd Dog/ Double coat
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
Dwarfism, Pituitary
OMIA
307
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Test Type
Genetic Disease/Disorder
Details
Pituitary dwarfism is caused by a combined pituitary hormone deficiency. The effects include underdeveloped kidneys (and often renal failure), underactive thyroid glands, and sterility. The side effects are often noticed in the first few months as short legs, long body, a short jaw, bulging eyes, and skin disorders including baldness and bacterial skin infections. Age of symptoms onset apparent at 8-16 weeks. Forms of this disease can also be non-genetic.
Details 2
Pituitary dwarfism is caused by a combined pituitary hormone deficiency. The effects include underdeveloped kidneys (and often renal failure), underactive thyroid glands, and sterility. The side effects are often noticed in the first few months as short legs, long body, a short jaw, bulging eyes, and skin disorders including baldness and bacterial skin infections. Age of symptoms onset apparent at 8-16 weeks. Forms of this disease can also be non-genetic.
Published
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference: 25273400. DOI: 10.1111/jvim.12448.
Published 2
Tsai, K.L., Noorai, R.E., Starr-Moss, A.N., Quignon, P., Rinz, C.J., Ostrander, E.A., Steiner, J.M., Murphy, K.E., Clark, L.A. : Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome 23:203-11, 2012. Pubmed reference: 22105877. DOI: 10.1007/s00335-011-9376-9.
Published 3
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference: 25273400. DOI: 10.1111/jvim.12448.
Body/System/Process
Endocrine
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Nature of test
mutation test
GTP- or Breed-Specific Publications
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Nature of test
mutation test
GTP- or Breed-Specific Publications
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Nature of test
mutation test
GTP- or Breed-Specific Publications
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference
Inheritance
AR
GTP Notes
Not currently available
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Nature of test
mutation test
GTP- or Breed-Specific Publications
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
pituitary Ratkhe's pouch cyste
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
LHX3
Mutation
c.622-37-31del; c.545_547dupACA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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