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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"

Breed: Pomeranian.

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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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