OMIA:001431-9685 : Vitamin D-deficiency rickets, type II in Felis catus (domestic cat)

In other species: dog

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: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

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.

Molecular basis: Habacher et al. (2023) investigated a domestic longhair kitten with rickets. Whole-exome sequencing identified a "cytosine deletion at cat chromosome position B4:76777621 in VDR (ENSFCAT00000029466:c.106delC)". The variant was "predicted to cause a stop codon in exon 2 (p.Arg36Glufs*18), disrupting >90% of the receptor. The variant was unique and homozygous in this patient and absent in the sibling and approximately 400 other cats ... ."

Clinical features: Habacher et al. (2023) investigated a "14-week-old female domestic longhair kitten presented for shifting lameness and reluctance to jump. The kitten was substantially smaller (approximately 50% the size) than its male littermate. ... The afflicted kitten had marked hypocalcemia, mild hypophosphatemia and substantial elevations in alkaline phosphatase activity, as well as pathognomonic radiographic findings consistent with rickets. ... Endocrine testing demonstrated significant increases in serum concentrations of PTH and 1,25-dihydroxycholecalciferol (calcitriol), supporting a diagnosis of vitamin D-dependent rickets type 2."

Breed: Domestic Longhair.
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 Felis catus B4 NC_058374.1 (74708938..74651984) 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 Year Published PubMed ID(s) Acknowledgements
1586 Domestic Longhair Vitamin D-dependent rickets type 2 VDR deletion, small (<=20) Naturally occurring variant Felis_catus_9.0 B4 g.76777621del c.106del p.(R36Efs*18) ENSFCAT00000029466; published as c.106delC 2023 37387221

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001431-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Habacher, G., Malik, R., Lait, P.J., Coghill, L.M., Middleton, R.P., Warren, W.C., Lyons, L.A. :
Feline precision medicine using whole-exome sequencing identifies a novel frameshift mutation for vitamin D-dependent rickets type 2. J Feline Med Surg 25:1098612X231165630, 2023. Pubmed reference: 37387221. DOI: 10.1177/1098612X231165630.
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.
2005 Godfrey, DR., Anderson, RM., Barber, PJ., Hewison, M. :
Vitamin D-dependent rickets type II in a cat. J Small Anim Pract 46:440-4, 2005. Pubmed reference: 16167595.
Tanner, E., Langley-Hobbs, SJ. :
Vitamin D-dependent rickets type 2 with characteristic radiographic changes in a 4-month-old kitten. J Feline Med Surg 7:307-11, 2005. Pubmed reference: 16182185. DOI: 10.1016/j.jfms.2005.01.003.
2003 Schreiner, CA., Nagode, LA. :
Vitamin D-dependent rickets type 2 in a four-month-old cat. J Am Vet Med Assoc 222:337-9, 315-6, 2003. Pubmed reference: 12564596.
1999 Henik, RA., Forrest, LJ., Friedman, AL. :
Rickets caused by excessive renal phosphate loss and apparent abnormal vitamin D metabolism in a cat. J Am Vet Med Assoc 215:1644-9, 1620-1, 1999. Pubmed reference: 14567428.

Edit History

  • Created by Frank Nicholas on 18 Jul 2006
  • Changed by Imke Tammen2 on 01 Jul 2023