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Osteochondrodysplasia

General

Disease Name
Osteochondrodysplasia
Disease Name 2
Pseudoachondroplastic Dysplasia , Multiple Epiphyseal Dysplasia, PSACH, MED
OMIA
1315
Gene Name
SLC13A1
Mutation
g.63600045_63729942del129897bp
OMIM
600972
OMIM 2
256050
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
Inheritance
AR
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