OMIA:000837-9823 : Vitamin D-deficiency rickets, type IA in Sus scrofa |
In other species: dog , domestic cat
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 264700 (trait) , 609506 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2003
Cross-species summary: Vitamin D (cholecalciferol) is synthesised in the skin from 7-dehydrocholesterol by the action of UV radiation from sunlight. Cholecalciferol, however, has very little biological activity: it requires two hydroxylations in order to become (biologically) active. The first hydroxylation, catalysed by cholecalciferol 25-hydroxylase, occurs in the liver. The second of these hydroxylations occurs in the kidney under the action of the enzyme 25-alpha-hydroxycholecalciferol 1-hydroxylase. The resultant active form of vitamin D (called 1,25-dihydroxycholecalciferol or 1,25(OH)sub2D) is a steroid hormone that plays a vital role in whole-body calcium homeostasis. Vitamin D-deficieny rickets, type 1A (previously known as Pseudo-vitamin D deficiency rickets) is an inherited deficiency of the 1-hydroxylase enzyme, due to mutations in the gene that encodes this enzyme, namely CYP27B1. As expected, this deficiency results in clinical signs indistinguishable from those seen in individuals suffering from non-genetic lack of vitamin D, most commonly resulting from a dietary deficiency of calcium or insufficient exposure to sunlight. The clinical signs of rickets (inherited and non-genetic) arise from defects in calcium homeostasis. The most noticeable effects include a failure of calcification of bones (leading to bowing of limbs) and delayed dentition.
Species-specific name: PDDR
Molecular basis: The molecular basis of this disorder in pigs was determined via a candidate gene strategy by Chavez et al. (2003), who showed that in Hannover pigs, the clinical signs result from either of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1). [FN 16 Oct 2003; 21 Sep 2012]
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CYP27B1 | 25-hydroxyvitamin D3 1alpha-hydroxylase | Sus scrofa | 5 | NC_010447.5 (23058865..23053129) | CYP27B1 | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 656 | Vitamin D-deficiency rickets, type I | CYP27B1 | deletion, gross (>20) | Naturally occurring variant | 5 | the first of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) | 2003 | 12915218 | |||||||||
| 657 | Vitamin D-deficiency rickets, type I | CYP27B1 | deletion, gross (>20) | Naturally occurring variant | 5 | the second of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) | 2003 | 12915218 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000837-9823: 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.
| 2012 | Madson, D.M., Ensley, S.M., Gauger, P.C., Schwartz, K.J., Stevenson, G.W., Cooper, V.L., Janke, B.H., Burrough, E.R., Goff, J.P., Horst, R.L. : |
| Rickets: case series and diagnostic review of hypovitaminosis D in swine. J Vet Diagn Invest 24:1137-44, 2012. Pubmed reference: 22991390 . DOI: 10.1177/1040638712461487. | |
| 2003 | Chavez, L.S., Serda, R., Choe, S., Davidi, L., Harmeyer, J., Omdahl, J.L. : |
| Molecular basis for pseudo vitamin D-deficiency rickets in the Hannover pig Journal of Nutritional Biochemistry 14:378-85, 2003. Pubmed reference: 12915218 . | |
| 1998 | Axen, E., Harmeyer, J., Wikvall, K. : |
| Renal and hepatic 1-alpha-hydroxylation of 25-hydroxyvitamin D-3 in piglets suffering from pseudo vitamin D-deficiency rickets, type I Biochimica et Biophysica Acta - Molecular Basis of Disease 1407:234-242, 1998. | |
| 1994 | Barckhaus, R.H., Collery, P., Harmeyer, J., Poirier, L.A., Kaune, R., Littlefield, N.A., Gossrau, R., Etienne, J.C., Hohling, H.J. : |
| Quantitative X-Ray Microprobe Analysis of the Epiphyseal Growth Plate and Histochemistry of Various Intestinal Enzymes in Piglets Suffering from Vitamin D-Deficiency Rickets, Type-I Metal Ions in Biology and Medicine, Vol 3 3:59-64, 1994. | |
| 1992 | Limeback, H., Schlumbohm, C., Sen, A., Nikiforuk, G. : |
| The Effects of Hypocalcemia/Hypophosphatemia on Porcine Bone and Dental Hard Tissues in an Inherited Form of Type-1 Pseudo- Vitamin-D Deficiency Rickets Journal of Dental Research 71:346-352, 1992. Pubmed reference: 1556293 . | |
| 1986 | Limbach, B. : |
| [Expression of phenotypic characteristics in heterozygote piglets with pseudo-vitamin D-deficiency rickets, type 1] Inaugural-Dissertation, Tierarztliche Hochschule, Hannover, German Ferderal Republic :90 pp., 1986. | |
| Winkler, I., Schreiner, F., Harmeyer, J. : | |
| Absence of renal 25-hydroxycholecalciferol 1-hydroxylase activity in a pig strain with pseudo vitamin D-dependent rickets Calcified Tissue Research 38:87-94, 1986. | |
| 1985 | Fox, J., Mauder, E.M.W., Randall, V.A., Care, A.D. : |
| Vitamin D-dependent rickets type I in pigs Clinical Science 69:541-548, 1985. Pubmed reference: 2996825 . | |
| Harmeyer, J., Kaune, R. : | |
| [A defect of cholecalciferol metabolism as the basis of hereditary rickets in pigs] :207-217, 1985. | |
| 1982 | Harmayer, J. : |
| Inherited disturbance of vitamin D metabolism in pig :64-75, 1982. | |
| 1969 | Plonait, H. : |
| Inherited rickets in the piglet: pathogenesis and treatment Zentralblatt fur Veterinarmedizin 16A:271-288, 1969. | |
| 1968 | Meyer, H., Plonait, H. : |
| An inherited disorder of calcium metabolism in the pig (hereditary rickets) Zentralblatt fur Veterinarmedizin, Reihe A 15:481-493, 1968. |
Edit History
- Created by Frank Nicholas on 01 Dec 2009
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012