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Vitamin D-resistant Rickets

Breeds

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 for these breeds

General

Disease Name
Vitamin D-resistant Rickets
Mutation
c.462delG
Test Type
Genetic Disease/Disorder
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.
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