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Vitamin D-resistant Rickets
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
General
Disease Name
Vitamin D-resistant Rickets
OMIA
1431
Gene Name
VDR
Mutation
c.462delG
Test Type
Diagnostic Tool
Details
Hereditary Rickets is present from birth, with signs becoming apparent with age, including hair loss, pups that tire easily, intermittent lameness and progressive bowing of the legs. Eventually can lead to bone weakness and breakage.
Details 2
Responsible for hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Published
LeVine, DN., Zhou, Y., Ghiloni, RJ., Fields, EL., Birkenheuer, AJ., Gookin, JL., Roberston, ID., Malloy, PJ., Feldman, D. : Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene. J Vet Intern Med 23:1278-83, 2009. Pubmed reference: 19909429. DOI: 10.1111/j.1939-1676.2009.0405.x.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
