Disease Detail Information

Basic Information

Disease Ontology ID: DDTO:0000244

Disease Description: Imperfect development of the structure and/or mineralization of the bones.

Inherit Mode: -

Disease Symptom: Clinical signs consist of pain, spontaneous bone and teeth fractures, loose joints, and reduced bone density on radiography. Primary teeth are extremely thin-walled and brittle.

Disease Cause: There is no cure for this disorder.

Disease Diagnose: When a young dog is evaluated for multiple fractures with minimal to no accompanying trauma, osteogenesis imperfecta is suspected. The diagnosis is based on analyzing type I collagen from cultured skin cells (fibroblasts) and confirmed by radiographic findings showing multiple bone fractures in various stages of healing.

Treat Method: -

Breeder Advice: -

Disease Description Source: Link

Associated Diseases

Disease Name	Other Name	Mode of inheritance	Link ID	Gene
Osteogenesis imperfecta, generic	-	Autosomal Dominant		-
Osteogenesis imperfecta, type III, COL1A1-related	-	Autosomal Dominant		-
Osteogenesis imperfecta, COL1A2-related	-	Autosomal Dominant		-
Osteogenesis imperfecta, SERPINH1-related	-	Autosomal Recessive		-
	CIDD	-	-

Associated Breeds

iDog Breed Number	Breed Name	Personality	Height	Weight	Breed Source
CB28	Belgian Laekenois	Affectionate, Alert, Intelligent	24-26 inches (male), 22-24 inches (female)	55-65 pounds	Belgium
CB268	Miniature Poodle	Intelligent, Eager-to-please , Charming companion	25-38 cm	4.5-6.8kg	France&Germany
CB269	Standard Poodle	Intelligent and quick-to-please	56-66 cm
CB270	Toy Poodle	Intelligent, eager to please, quick to learn and an affectionate, loyal pet.	under 25 cm

Associated Disease Variants from OMIA

Gene Differential Expression

References

2019	Letko,A.,Zdora,I.,Hitzler,V.,Jagannathan,V.,Beineke,A.,Möhrke,C.,Drögemüller,C.,Letko,A.,Zdora,I.,Hitzler,V.,Jagannathan,V.,Beineke,A.,Möhrke,C.,Drögemüller,C.: : A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta. Anim Genet :, 2019. Pubmed reference: 31468557 . DOI: 10.1111/age.12843 .
2017	Quist,E.M.,Doan,R.,Pool,R.R.,Porter,B.F.,Bannasch,D.L.,Dindot,S.V.: : Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta. J Hered :, 2017. Pubmed reference: 29036614 . DOI: 10.1093/jhered/esx074 .
2015	Lindert,U.,Weis,M.A.,Rai,J.,Seeliger,F.,Hausser,I.,Leeb,T.,Eyre,D.,Rohrbach,M.,Giunta,C.: : Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta. J Biol Chem 290:17679-89, 2015. Pubmed reference: 26004778 . DOI: 10.1074/jbc.M115.661025 .
2013	Eckardt,J.,Kluth,S.,Dierks,C.,Philipp,U.,Distl,O.: : Osteogenesis imperfecta in dachshunds. J. Eckardt, S. Kluth, C. Dierks, U. Philipp and O. Distl comment. Vet Rec 172:319, 2013. Pubmed reference: 23525818 . DOI: 10.1136/vr.f1870 .
2013	Eckardt,J.,Kluth,S.,Dierks,C.,Philipp,U.,Distl,O.: : Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec 172:364, 2013. Pubmed reference: 23315765 . DOI: 10.1136/vr.101122 .
2013	Schütz,E.,Brenig,B.,Scharfenstein,M.,Drögemüller,C.,Leeb,T.: : Osteogenesis imperfecta in dachshunds. Vet Rec 172:319, 2013. Pubmed reference: 23525816 . DOI: 10.1136/vr.f1823 .
2012	Abitbol,M.: : [DNA testing for osteogenesis imperfecta in the Dachshund.] Point Veterinaire 43:6-7, 2012.
2012	Schutz,E.,Drogemuller,C.,Scharfenstein,M.,Brenig,B.: : [Osteogenesis imperfecta in the Dachshund]. Kleintierpraxis 57:57-62, 2012.
2012	Widmer,C.,Gebauer,J.M.,Brunstein,E.,Rosenbaum,S.,Zaucke,F.,Drögemüller,C.,Leeb,T.,Baumann,U.: : Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Proc Natl Acad Sci U S A 109:13243-7, 2012. Pubmed reference: 22847422 . DOI: 10.1073/pnas.1208072109 .
2009	Drogemuller,C.,Becker,D.,Brunner,A.,Haase,B.,Kircher,P.,Seeliger,F.,Fehr,M.,Baumann,U.,Lindblad-Toh,K.,Leeb,T.: : A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5:e1000579, 2009. Pubmed reference: 19629171 . DOI: 10.1371/journal.pgen.1000579 .
2003	Seeliger,F.,Leeb,T.,Peters,M.,Brugmann,M.,Fehr,M.,Hewicker-Trautwein,M.: : Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol 40:530-9, 2003. Pubmed reference: 12949410 .
2001	Campbell,B.G.,Wootton,J.A.M.,Macleod,J.N.,Minor,R.R.: : Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta Journal of Bone & Mineral Research 16:1147-1153, 2001. Pubmed reference: 11393792 . DOI: 10.1359/jbmr.2001.16.6.1147 .
2000	Campbell,B.G.,Wootton,J.A.M.,MacLeod,J.N.,Minor,R.R.: : Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha 1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta Archives of Biochemistry & Biophysics 384:37-46, 2000. Pubmed reference: 11147834 .
2000	Lazar,T.,deHaan,J.J.,Peck,J.N.,Campbell,B.G.,Ginn,P.E.,Phillips,L.,Suero,A.,Chase,J.: : Osteogenesis imperfecta in three dogs from a single litter Veterinary & Comparative Orthopaedics & Traumatology 13:23-27, 2000.
1997	Campbell,B.G.,Wootton,J.A.M.,Krook,L.,Demarco,J.A.,Minor,R.R.: : Clinical signs and diagnosis of osteogenesis imperfecta in three dogs Journal of the American Veterinary Medical Association 211:183 ff., 1997. Pubmed reference: 9227748 .
1991	Konig,F.: : Case Report - Osteogenesis Imperfecta in a German Shepherd Puppy Kleintierpraxis 36:583, 1991.
1960	Lettow,E.,Dammrich,K.: : [Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin 7:936-966, 1960.
1956	Calkins,E.,Kalm,D.,Diner,W.C.: : Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta' Annals of the New York Academy of Sciences 64:410-423, 1956.