OMIA:000313-9913 : Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia in Bos taurus (taurine cattle)
Categories: Haematopoietic system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: no
Cross-species summary: CDA with dyskeratosis and progressive alopecia
History: This disorder was first reported by Steffen et al. (1991).
Inheritance: Steffen et al. (1993) provided strong evidence for autosomal recessive inheritance of this disorder in Poll Herefords in the USA. Kessell et al. (2012) provided the first report in Australia (in two Poll Hereford calves) of what appears to be the same disorder.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: The two calves reported by Kessell et al. (2012) "had a variably severe anaemia, associated with abnormal nucleated red blood cells in peripheral blood, and large numbers of rubricytes and metarubricytes with a characteristic nuclear ultrastructure in the bone marrow. Both calves were born with a wiry hair coat and a progressively ‘dirty-faced’ appearance associated with hyperkeratosis and dyskeratosis (apoptosis)".
Polled Hereford (Cattle) (VBO_0000341).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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||Kessell, A., Hanshaw, D., Finnie, J., Nosworthy, P. :|
|Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves. Aust Vet J 90:499-504, 2012. Pubmed reference: 23186092. DOI: 10.1111/j.1751-0813.2012.00998.x.|
|1994||Burton, S.A., Ikede, B.O., Lofstedt, J., Keefe, G.P., Miller, L.M. :|
|Congenital dyserythropoiesis and dyskeratosis in a polled Hereford calf. Can Vet J 35:519-20, 1994. Pubmed reference: 7954229.|
|1993||Steffen, D.J., Leipold, H.W., Schalles, R., Kemp, K., Smith, J.E. :|
|Epidemiologic Findings in Congenital Anemia, Dyserythropoiesis, and Dyskeratosis in Polled Hereford Calves Journal of Heredity 84:263-265, 1993. Pubmed reference: 8340614.|
|1992||Steffen, D.J., Leipold, H.W., Elliott, G.S., Smith, J.E. :|
|Ultrastructural Findings in Congenital Anemia, Dyskeratosis, and Progressive Alopecia in Polled Hereford Calves Veterinary Pathology 29:203-209, 1992. Pubmed reference: 1621331.|
|Steffen, D.J., Elliott, G.S., Leipold, H.W., Smith, J.E. :|
|Congenital Dyserythropoiesis and Progressive Alopecia in Polled Hereford Calves - Hematologic, Biochemical, Bone Marrow Cytologic, Electrophoretic, and Flow Cytometric Findings Journal of Veterinary Diagnostic Investigation 4:31-37, 1992. Pubmed reference: 1348189.|
|1991||Steffen, D.J., Leipold, H.W., Gibb, J., Smith, J.E. :|
|Congenital Anemia, Dyskeratosis, and Progressive Alopecia in Polled Hereford Calves Veterinary Pathology 28:234-240, 1991. Pubmed reference: 1858254.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 18 Dec 2012
- Changed by Frank Nicholas on 28 Dec 2012