The detail information of Osteochondrodysplasia
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2012

Species-specific name: Also known as pseudoachondroplastic dysplasia

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB285 Miniature Smooth-Haired Dachshund 4.5 kg Germany
Associated Gene
Symbol Description Species Position Other Links
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 Canis lupus familiaris Chr14 : 60802007 - 60697897 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2012 Jackson,G.C.,Mittaz-Crettol,L.,Taylor,J.A.,Mortier,G.R.,Spranger,J.,Zabel,B.,LeMerrer,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 .
2012 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 .
1999 Stevens,J.W.: :
Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J 19:53-65, 1999.
Pubmed reference: 10847517 .
1992 Breur,G.J.,Farnum,C.E.,Padgett,G.A.,Wilsman,N.J.: :
Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am 74:516-28, 1992.
Pubmed reference: 1583046 .
1989 Breur,G.J.,Zerbe,C.A.,Slocombe,R.F.,Padgett,G.A.,Braden,T.D.: :
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc 195:606-12, 1989.
Pubmed reference: 2777707 .
1980 Riser,W.H.,Haskins,M.E.,Jesyk,P.F.,Patterson,D.F.: :
Pseudoachondroplastic dysplasia in Miniature Poodles: : clinical, radiologic, and pathologic features. Journal of the American Veterinary Medical Association 176:335-341, 1980.
Pubmed reference: 6987200 .
1977 Bruno,W.,Janik,T.: :
What's your diagnosis? Journal of American Veterinary Medical Association 170:1097–1098, 1977.
1966 Lodge,D.: :
Two cases of epiphyseal dysplasia. Veterinary Record 79:136–138, 1966.
1961 Amlof,J.: :
On achondroplasia in the dog. Zentralblatt fur Veterinaermed 8:43–56, 1961.
1959 Gardner,D.: :
Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio 77:243-247, 1959.
1956 Cotchin,E.,Dyce,K.: :
A case of epiphyseal dsyplasia in a dog. Veterinary Record 68:427–428, 1956.