OMIA:000593-9913 : Acrodermatitis enteropathica in Bos taurus (taurine cattle) |
In other species: dog , domestic cat
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 201100 (trait) , 607059 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2002
Species-specific name: Lethal trait A46; bovine hereditary zinc deficiency, hereditary parakeratosis, hereditary thymus hypoplasia
Species-specific symbol: BHZD, A46
Species-specific description: Bovine hereditary zinc deficiency was first described in Friesian cattle (McPherson et al., 1964) and later in Fleckvieh (Schlerka and Baumgartner, 1976), Shorthorn (Vogt et al., 1988) and Angus cattle (Cook and Gill, 1993). A likely disease causing variant has been reported for Friesian cattle (Yuzbasiyan-Gurkan and Bartlett, 2006).
Molecular basis: In a conference abstract, Tammen et al. (2002) reported an undisclosed likely causal nonsense variant in the comparative candidate gene SLC39A4 for the disease in Angus cattle. Yuzbasiyan-Gurkan and Bartlett (2006) reported the molecular basis of this disorder in Friesian cattle to be a splice-site variant within the SLC39A4 gene. "The mutation leads to exon skipping, leaving the coding region in frame. The gene product is predicted to lack two critical motifs, which lie in adjacent transmembrane domains implicated in the formation of a pore responsible for the transport of zinc. While further functional studies are warranted, this unique variant is likely to be responsible for the impaired zinc absorption in this disease."
Breeds:
Angus (Cattle) (VBO_0000104),
Holstein Friesian (Cattle) (VBO_0000239),
Shorthorn (Cattle) (VBO_0000375),
Simmental (Cattle) (VBO_0000380).
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 |
|---|---|---|---|---|---|---|
| SLC39A4 | solute carrier family 39 (zinc transporter), member 4 | Bos taurus | 14 | NC_037341.1 (533918..538406) | SLC39A4 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 372 | Holstein Friesian (Cattle) | Acrodermatitis enteropathica | SLC39A4 | splicing | Naturally occurring variant | ARS-UCD1.2 | 14 | g.537516G>A | c.1645+1G>A | "a single nucleotide mutation of the splice donor site in intron 10" | rs5334475080 | 2006 | 16714095 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000593-9913: 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.
| 2006 | Yuzbasiyan-Gurkan, V., Bartlett, E. : |
| Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: An animal model of acrodermatitis enteropathica. Genomics 88:521-6, 2006. Pubmed reference: 16714095. DOI: 10.1016/j.ygeno.2006.03.018. | |
| 2002 | Tammen, I., Cook, R.W., Gitschier, J., Nicholas, F.W., Raadsma, H.W. : |
| Mapping and identification of the gene causing hereditary zinc deficiency in Angus cattle. Proceedings of the 28th International Conference on Animal Genetics in Göttingen, Germany Abstract C059:70, 2002. | |
| 1999 | Tammen, I., Warren, W.C., Raadsma, H.W. : |
| Physical and linkage mapping of the bovine zinc transporter 4 (ZNT4) gene to chromosome 10. Anim Genet 30:474-5, 1999. Pubmed reference: 10612253. DOI: 10.1046/j.1365-2052.1999.00498-15.x. | |
| Tammen, I., Cavanagh, J.A.L., Cook, R.W., Harper, P.A.W., Raadsma, H.W., Nicholas, F.W. : | |
| Combined homozygosity mapping and candidate gene approach for the identification of disease genes in cattle and sheep Archiv fur Tierzucht-Archives of Animal Breeding 42:163-166, 1999. | |
| 1996 | Machen, M., Montgomery, T., Holland, R., Braselton, E., Dunstan, R., Brewer, G., Yuzbasiyangurkan, V. : |
| Bovine hereditary zinc deficiency - lethal trait A46 Journal of Veterinary Diagnostic Investigation 8:219-227, 1996. Pubmed reference: 8744744. | |
| 1993 | Agerholm, J.S., Basse, A., Christensen, K. : |
| Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 Acta Vet Scand 34:245-53, 1993. Pubmed reference: 8310897. DOI: 10.1186/BF03548188. | |
| Cook, R.W., Gill, P.A. : | |
| Heritable zinc deficiency in Angus cattle Proceedings of the Annual Conference of the Australian Society of Veterinary Pathology :90 only, 1993. | |
| Scott, D., Tizard, I. : | |
| Primary immunodeficiencies of food animals Vet Clin North Am Food Anim Pract 9:65-75, 1993. Pubmed reference: 8457931. DOI: 10.1016/s0749-0720(15)30672-1. | |
| 1992 | Bauer, R., Brummerstedt, E., Jensen, M., Mejborn, H., Smith, M. : |
| Reduced rate of uptake of zinc ions in a calf affected with the Lethal Syndrome A46 relative to clinically normal calves using whole body radio-isotope scanning of Zn-62 APMIS 100:347-52, 1992. Pubmed reference: 1581043. DOI: 10.1111/j.1699-0463.1992.tb00882.x. | |
| 1989 | Perryman, L.E., Leach, D.R., Davis, W.C., Mickelsen, W.D., Heller, S.R., Ochs, H.D., Ellis, J.A., Brummerstedt, E. : |
| Lymphocyte alterations in zinc-deficient calves with lethal Trait A46 Vet Immunol Immunopathol 21:239-48, 1989. Pubmed reference: 2800326. DOI: 10.1016/0165-2427(89)90034-2. | |
| 1988 | Vogt, D.W., Carlton, C.G., Miller, R.B. : |
| Hereditary parakeratosis in Shorthorn beef calves Am J Vet Res 49:120-1, 1988. Pubmed reference: 3354957. | |
| 1987 | Abid, H., Kwon, M-S., Stober, M., Letesson, J-J., Davis, W.C., Leibold, W. : |
| Immune reactions in calves with hereditary zinc malabsorption Proceedings of the Eighth European Immunology Meeting, Zagreb, Yugoslavia :30, 1987. | |
| 1986 | O'Brien, J.K. : |
| Inherited parakeratosis in two Friesian calves Veterinary Record 119:205-206, 1986. | |
| 1984 | Lamand, M. : |
| Zinc deficiency in ruminants Irish Veterinary Journal 38:40-47, 1984. | |
| McErlean, B.A. : | |
| Inherited malabsorption of zinc in a Friesian calf (lethal trait A46) Irish Veterinary Journal 38:48-53, 1984. | |
| 1983 | Reich, H. : |
| [Acrodermatitis enteropathica--hereditary parakeratosis in calves: contribution to comparative dermatology]. Z Hautkr 58:1410-5, 1983. Pubmed reference: 6649744. | |
| Savey, M. : | |
| Identification on France de la parakeratose hereditaire bovine Bulletin d'Academie Veterinaire de France 56:289-298, 1983. | |
| 1982 | Herzog, A., Hohn, H., Kopp, U. : |
| Chromosomenanalyse bei Kalbern mit erblicher Parakeratose Berliner und Munchener Tierartzliche Wochenschrift 95:284-287, 1982. | |
| Price, J., Wood, D.A. : | |
| Zinc responsive parakeratosis and ill-thrift in a Friesian calf Veterinary Record 110:478 only, 1982. | |
| 1981 | Flagstad, T. : |
| Zinc absorption in cattle with a dietary picolinic acid supplement Journal of Nutrition 111:1996-1999, 1981. Pubmed reference: 7299497. | |
| 1980 | Lekeux, P. : |
| Parakeratose de la peau chez un veau Annales de Medicine Veterinaire 124:185-190, 1980. | |
| 1979 | Bosma, A.A., Kroneman, J. : |
| Chromosome studies in cattle with hereditary zinc deficiency (lethal trait A 46) Veterinary Quarterly 1:121-125, 1979. | |
| 1977 | Brummerstedt, E., Basse, A., Flagstad, T., Andresen, E. : |
| Animal model of human disease: acrodermatitis enteropathica, zinc malabsorption. Animal model: lethal trait A 46 in cattle (hereditary parakeratosis, hereditary thymnic hypoplasia, hereditary zinc deficiency) American Journal of Pathology 87:725-728, 1977. Pubmed reference: 559415. | |
| 1976 | Perusia, O.R. : |
| Paraqueratosis en terneros por carencia de cinc Gaceta Veterinaria 58:276-279, 1976. | |
| Schlerka, G., Baumgartner, W. : | |
| Parakeratose bei einem Hohenfleckviehkalb Wiener Tierartzliche Monatsschrift 63:19-22, 1976. | |
| Weismann, K., Flagstad, T. : | |
| Hereditary zinc deficiency (adema disease) in cattle, an animal parallel to acrodermatitis enteropatica Acta Dermato Venerologica 56:151-154, 1976. | |
| 1975 | Ansay, M. : |
| Hereditary zinc deficiency (A 46 syndrome) in Dutch Friesian cattle : a deficiency in cellular immunity ? Annales de Medecine Veterinaire 119:479-481, 1975. | |
| Basse, A. : | |
| Post-mortem findings in calves with the lethal trait A46, in Black Pied Danish cattle of Friesian descent Proceedings of the Eighth International Meeting on Diseases of Cattle. VI Congresso della Societa' Italiana di Buiatria, Milan, 1974 :147-149, 1975. | |
| Moynahan, E.J. : | |
| Letter: Zinc deficiency and cellular immune deficiency in acrodermatitis enteropathica in man and zinc deficiency with thymic hypoplasia in fresian calves: a possible genetic link. Lancet 2:710, 1975. Pubmed reference: 52085. | |
| 1974 | Schaaf, A. van der : |
| A hereditary condition associated with increased zinc requirements in Dutch Friesian calves Tijdschrift voor Diergeneeskunde 99:1017-1020, 1974. Pubmed reference: 4408424. | |
| Signorini, G.C. : | |
| Malattie del piede da carenzo di zinco e patologia da oligoelementi Proceedings of the 8th International Meeting on Diseases of Cattle/6th Congress of the Society Italiano Buiatrica, Mailand :184-188, 1974. | |
| Stober, M., Pittermann, D., Klug, E. : | |
| Hereditary parakeratosis of Black Pied Lowland calves Zentralblatt fur Veterinarmedizin 20:165-171, 1974. | |
| 1971 | Adrichem, P.W.M. van, Leeuwen, J.M. van, Kluijve, J.J. van : |
| Parakeratosis of the skin in calves Netherlands Journal of Veterinary Science 4:57-63, 1971. | |
| Larsen, B. : | |
| Investigations on the relationship of blood and polymorphic protein systems to a lethal trait, A46, in cattle Aarsberetning. Institut for Sterilitetsforskning, Copenhagen :183-191, 1971. | |
| Stober, M. : | |
| Paracheratosi cutanea nei vitelli pezzati neri Atti della Societa Italiana de Buiatria 3:236-246, 1971. | |
| Stöber, M. : | |
| [Parakeratosis in black pied calves. 1. Clinical findings and etiology]. Dtsch Tierarztl Wochenschr 78:257-65, 1971. Pubmed reference: 4930216. | |
| 1970 | Andresen, E., Flagstad, T., Basse, A., Brummerstedt, E. : |
| Evidence of a lethal trait, A 46, in Black Pied Danish cattle of Friesian descent Nordisk Veterinaermedicin 22:473-485, 1970. | |
| Gronberg-Pedersen, H. : | |
| Morbus Ademae: En ny sygdrom hos SDM-kalve - muligvis med genetisk baggrund Medlemsblad Danske Dyrlaegeforen 53:143-145, 1970. | |
| 1964 | McPherson, E.A., Beattie, I.S., Young, G.B. : |
| An inherited defect in Friesian calves Proceedings of the Third International Meeting on Diseases of Cattle, Copenhagen :533-539, 1964. |
Edit History
- Created by Frank Nicholas on 25 Sep 2006
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 17 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 16 Dec 2011
- Changed by Frank Nicholas on 05 Dec 2012
- Changed by Imke Tammen2 on 01 Sep 2022
- Changed by Imke Tammen2 on 05 Sep 2022
- Changed by Imke Tammen2 on 12 Sep 2024