Osteochondrodysplasia
            Breed: Australian Labradoodle
        
        
        
        
    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
Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            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
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC13A1
            
        
        
        
            Mutation
        
    
    
            g.63600045_63729942del129897bp
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC13A1
            
        
        
        
            Mutation
        
    
    
            g.63600045_63729942del129897bp
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC13A1
            
        
        
        
            Mutation
        
    
    
            g.63600045_63729942del129897bp
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            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
        
    
    
            -28
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            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
            
        
        VHL Genetics/ Combibreed
        
            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
            
        
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