OMIA 001431-9615 : Vitamin D-deficiency rickets, type II in Canis lupus familiaris

See the equivalent entry at NCBI

In other species: domestic cat

Possible human homologue (MIM number): 277440

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 2009

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"

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_006609.3 (6852915..6909466) VDR Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Pomeranian Vitamin D-deficiency rickets, type II VDR splicing "A unique single base deletion (guanine) was identified at the exon 4-intron junction" 2009 19909429

Reference


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