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Osteochondrodysplasia
Breed: Poodles
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
Osteochondrodysplasia
OMIA
1315
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Test Type
Genetic Disease/Disorder
Details
Osteochondrodysplasia is an abnormality of the growth receptor genes, slowing development and growth of cartilage and bones, causing dwarfism and deformities in some cases throughout the body. Signs include: shortening of the long leg bones - normally all legs, but in some cases only 2-3 legs, severe pain, enlarged heads, arthritis and back problems. Other effects of this disease due to the retardation of bone and cartilage growth include: shortened muzzles or noses, bulging eyes, shorter jaws causing dentition issues, slow growth, inflammation of joints, retinal dysplasia. Age of onset from birth, but effects can seem progressive as they don't always fully manifest until maturity.
Details 2
Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot . . . . Radiographic stippling is found at the epiphyses, reflecting aberrant conversion of cartilage to bone. The vertebrae are often beaked at their ventral surface, a clinical hallmark of several human skeletal dysplasias. The stiffness of joints that is profound in young affected dogs lessens with maturation, but mobility remains restricted and arthritis is a common sequelae. (Neff et al, 2012)
Published
Neff, M.W., Beck, J.S., Koeman, J.M., Boguslawski, E., Kefene, L., Borgman, A., Ruhe, A.L. : Partial Deletion of the Sulfate Transporter SLC13A1 Is Associated with an Osteochondrodysplasia in the Miniature Poodle Breed. PLoS One 7:e51917, 2012. Pubmed reference: 23300579. DOI: 10.1371/journal.pone.0051917.
Published 2
Jackson, G.C., Mittaz-Crettol, L., Taylor, J.A., Mortier, G.R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C.M., Offiah, A., Wright, M.J., Savarirayan, R., Nishimura, G., Ramsden, S.C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, A., Briggs, M.D. : Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 33:144-57, 2012. Pubmed reference: 21922596. DOI: 10.1002/humu.21611.
Body/System/Process
Skeletal
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Miniature Poodle
HSP Test-Specific Data
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
pseudoachondroplastic dysplasia , multiple epiphyseal dysplasia, PSACH, MED
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Nature of test
mutation test
FCI Number
172
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
pseudoachondroplastic dysplasia , multiple epiphyseal dysplasia, PSACH, MED
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Nature of test
mutation test
FCI Number
172
GTP Breed
Poodles
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
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