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Osteogenesis Imperfecta

General

Disease Name
Osteogenesis Imperfecta
OMIA
1483
Gene Name
SERPINH1
Mutation
c.325delC
Mutation 2
c.977C>T
OMIM
600943
Disease Code
OI
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Brittle bone disease
Details
Causes bones and teeth to be extremely brittle and easy to break. Joints may also be very flexible
Details 2
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I...(From Drogemuller et al, 2009)
Published
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
Body/System/Process
Skeletal
Inheritance
AR
Gene Name Text
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
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