OMIA:001431-9615 : Vitamin D-deficiency rickets, type II in Canis lupus familiaris
In other species: domestic cat
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 277440 (trait) , 601769 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2009
Cross-species summary: Vitamin D dependent rickets type 2A (VDDR-2A), also called hereditary vitamin-D resistant rickets (HVDRR), is caused in many species by mutations in the Vitamin D Receptor (VDR) gene.
Species-specific symbol: HVDRR
Species-specific description: Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Molecular basis: LeVine et al. (2009) reported "A unique single base deletion (guanine) was identified at the exon 4-intron junction . . . in the affected dog's genomic DNA"
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|VDR||vitamin D (1,25- dihydroxyvitamin D3) receptor||Canis lupus familiaris||27||NC_051831.1 (6920266..6976964)||VDR||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|370||Pomeranian||Vitamin D-deficiency rickets, type II||VDR||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||27||g.6895070del||c.462del||p.(P155Lfs*40)||XM_038438367.1; XP_038294295.1; a single G deletion at the exon 4 / intron 4 junction; splicing is not affected, but the aberrant transcript contains a frameshift and premature stop codon; coordinates have been updated to recent reference sequence and differ from the publication||2009||19909429|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Clarke, K.E., Hurst, E.A., Mellanby, R.J. :|
|Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract 62:935-947, 2021. Pubmed reference: 34323302 . DOI: 10.1111/jsap.13401.|
|2009||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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