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Congenital Hypothyroidism
Breed: Spanish Waterdog
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
Congenital Hypothyroidism
OMIA
536
Gene Name
TPO
Mutation
c.1777C>T
Mutation 2
c.39insG
Mutation 3
c.367C>T
Mutation 4
c.331C>T
Test Type
Genetic Disease/Disorder
Details
Reported signs include growth abnormalites (dwarfism), delayed tooth eruption, delayed opening of eyes and ear canals, hair/coat abnormalites, thickened skin, lethargy, unresponsiveness, failure to suckle, and goiter. Age of onset is early (less than one week of age) for congentical hypothyroidism. Signs of disease, and disease onset can vary by breed/type.
Details 2
Signs include growth retardation (dwarfism), epiphyseal dysplasia in the vertebrae and limbs, delayed dental eruption, delayed opening of eyes and ear canals, delayed haircoat maturation, thickened subcutis, lethargy, unresponsiveness, failure to suckle. Age of onset is early (less than one week of age) for congentical hypothyroidism. Goiter, extremely low T4, and increased TSH are reported signs in Toy Fox Terriers, Rat Terriers, Tenterfield Terriers, and Spanish Water Dogs. (from OMIA, 2018)
Published
Boretti, F.S., Breyer-Haube, I., Kaspers, B., Reusch, C.E. : [Clinical, hematological, biochemical and endocrinological aspects of 32 dogs with hypothyroidism] Schweizer Archiv fur Tierheilkunde 145:149-56, 158-9, 2003. Pubmed reference: 12741092.
Published 2
Fyfe, J.C., Kampschmidt, K., Dang, V., Poteet, B.A., He, Q., Lowrie, C., Graham, P.A., Fetro, V.M. : Congenital hypothyroidism with goiter in toy fox terriers Journal of Veterinary Internal Medicine 17:50-7, 2003. Pubmed reference: 12564727./
Published 3
Pettigrew, R., Fyfe, J.C., Gregory, B.L., Lipsitz, D., Delahunta, A., Summers, B.A., Shelton, G.D. : CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene. Vet Pathol 44:50-6, 2007. Pubmed reference: 17197623. DOI: 10.1354/vp.44-1-50.
Published 4
Bianchi, M., Dahlgren, S., Massey, J., Dietschi, E., Kierczak, M., Lund-Ziener, M., Sundberg, K., Thoresen, S.I., Kämpe, O., Andersson, G., Ollier, W.E., Hedhammar, Å., Leeb, T., Lindblad-Toh, K., Kennedy, L.J., Lingaas, F., Rosengren Pielberg, G. : A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12. PLoS One 10:e0134720, 2015. Pubmed reference: 26261983. DOI: 10.1371/journal.pone.0134720.
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
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
GTP Disease Synonym
Congenital Hypothyroidism with Goiter (Terrier Type)
Gene Name
TPO
Mutation
c.39insG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Lynch, M., Olsen, J., Lou?r, E. : A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure. Mamm Genome 24:127-33, 2013. Pubmed reference: 23223904. DOI: 10.1007
Application in the Breed
Carriers may be bred to normal animals (N/ch x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ch x N/ch) nor of affected animals (ch/ch) . Growth retardation, delayed tooth eruption, delayed eye and ear opening, lethargy, hair coat abnormalities, thickened skin, and goite
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
336
GTP Breed
Spanish Waterdog
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
GTP Disease Synonym
Congenital Hypothyroidism with Goiter (Terrier Type)
Gene Name
TPO
Mutation
c.39insG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Lynch, M., Olsen, J., Lou?r, E. : A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure. Mamm Genome 24:127-33, 2013. Pubmed reference: 23223904. DOI: 10.1007
Application in the Breed
Carriers may be bred to normal animals (N/ch x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ch x N/ch) nor of affected animals (ch/ch) . Growth retardation, delayed tooth eruption, delayed eye and ear opening, lethargy, hair coat abnormalities, thickened skin, and goite
Inheritance
AR
FCI Number
336
GTP Breed
Spanish Waterdog
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
CHG
Gene Name
TPO
Mutation
c.39_40insG
Mutation Comment
g.773950_773951insG
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
Gene Name
TPO
Mutation
c.1777C>T
Mutation Comment
c.39insG
Nature of test
c.367C>T
This test is outsourced to:
Weatherby's
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
GTP Disease Synonym
Congenital Hypothyroidism with Goiter (Terrier Type)
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Lynch, M., Olsen, J., Lou?r, E. : A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure. Mamm Genome 24:127-33, 2013. Pubmed reference: 23223904. DOI: 10.1007
Application in the Breed
Carriers may be bred to normal animals (N/ch x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ch x N/ch) nor of affected animals (ch/ch) . Growth retardation, delayed tooth eruption, delayed eye and ear opening, lethargy, hair coat abnormalities, thickened skin, and goite
Inheritance
AR
FCI Number
336
GTP Breed
Spanish Waterdog
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
GTP Disease Synonym
Congenital Hypothyroidism with Goiter (Terrier Type)
Gene Name
TPO
Mutation
c.39insG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Lynch, M., Olsen, J., Lou?r, E. : A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure. Mamm Genome 24:127-33, 2013. Pubmed reference: 23223904. DOI: 10.1007
Application in the Breed
Carriers may be bred to normal animals (N/ch x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ch x N/ch) nor of affected animals (ch/ch) . Growth retardation, delayed tooth eruption, delayed eye and ear opening, lethargy, hair coat abnormalities, thickened skin, and goite
Inheritance
AR
FCI Number
336
GTP Breed
Spanish Waterdog
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Goiterous hypothyroidism
Gene Name
TPO
Mutation
c.39insG
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
TPO
Mutation
c.1777C>T; c.39insG; c.367C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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