OMIA:001431-9615 : Vitamin D-deficiency rickets, type II in Canis lupus familiaris (dog) |
In other species: domestic cat
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 277440 (trait) , 601769 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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"
Breed:
Pomeranian (Dog) (VBO_0201043).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| 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 |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 370 | Pomeranian (Dog) | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001431-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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. |
Edit History
- Created by Frank Nicholas on 04 Apr 2010
- Changed by Frank Nicholas on 29 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 11 Jul 2017
- Changed by Imke Tammen2 on 06 Aug 2021