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Vitamin D-resistant Rickets
Breed: German Spitz/ Pomeranian
Generic Phene Data
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
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
VDR
Mutation
c.462del
Mutation Comment
g.6895070del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
VHL Genetics/ Combibreed
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 c
Application in the Breed
Carriers may be bred to normal animals (N/hvdrr x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/hvdrr x N/hvdrr) nor of affected animals (hvdrr/hvdrr) to avoid reproducing. Areas of hair loss. Pups tire easily and may how intermittent lameness and progressive bowing of the legs. Bone weakness and breakage
Inheritance
AR
FCI Number
97
GTP Breed
German Spitz/ Pomeranian
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
VDR
Mutation
c.462delG
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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