OMIA:002111-9913 : Cataract, recessive, CPAMD8-related in Bos taurus (taurine cattle)

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 617319 (trait) , 608841 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Species-specific name: Morgagnian cataract

Inheritance: Hollmann et al. (2017): "an autosomal recessive inheritance of the cataract phenotype can be inferred from pedigree analyses".

Mapping: From a GWAS on 26 affected and 88 normal Red Holstein Friesians, each genotyped with the Illumina BovineSNP50 BeadChip, yielding 46,075 informative SNPs, Hollmann et al. (2017) observed "a significant association on bovine chromosome 7 at positions 6,166,179 and 12,429,691".

Markers: Braun et al. (2019) reported that "the CPAMD8:g.5995966C>T variant is insufficient to explain the majority of Morgagnian congenital cataract phenotypes in Holsteins. It is very likely that congenital bilateral cataracts may be genetically heterogeneous and not yet known variants in genes other than CPAMD8 and NID1 are involved."

Molecular basis: Hollmann et al. (2017): "Whole genome re-sequencing of one case and four relatives showed a nonsense mutation (g.5995966C>T) in the PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8) gene leading to a premature stop codon (CPAMD8 p.Gln74*)".

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Hollmann et al. (2017): "All four examined cases showed bilateral complete mature cataracts at time of birth. No other obvious ophthalmological anomalies were observed at this timepoint. . . . All cases showed a mature to hypermature cataract at time of examination".

Pathology: Hollmann et al. (2017): "Lenses [from affected animals] were usually of irregular shape, about two-thirds to half the size of an unaffected lens, and opaque white. . . . The cataractous lenses showed a loss of lens epithelium and thickening of the capsule . . . , but no clear distinction between basement membrane and connective tissue. The bulk of the lens showed Morgagnian globules . . . , liquefactions and mineralizations . . . confirming the presence of a hypermature cataract. No fibrillary structures could be observed."

Breed: Holstein (red and white) (Cattle) (VBO_0000238).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 Bos taurus 7 NC_037334.1 (6073213..6174094) CPAMD8 Homologene, Ensembl , NCBI gene


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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
358 Holstein (red and white) (Cattle) Cataract, recessive, CPAMD8-related CPAMD8 nonsense (stop-gain) Naturally occurring variant ARS-UCD1.2 7 g.6073556C>T c.220C>T p.(Q74*) rs5334474964 2017 28683140

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002111-9913: 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.

2019 Braun, M., Struck, A.K., Reinartz, S., Heppelmann, M., Rehage, J., Eule, J.C., Ciurkiewicz, M., Beineke, A., Metzger, J., Distl, O. :
Study of congenital Morgagnian cataracts in Holstein calves. PLoS One 14:e0226823, 2019. Pubmed reference: 31877171. DOI: 10.1371/journal.pone.0226823.
2017 Hollmann, A.K., Dammann, I., Wemheuer, W.M., Wemheuer, W.E., Chilla, A., Tipold, A., Schulz-Schaeffer, W.J., Beck, J., Schütz, E., Brenig, B. :
Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development. PLoS One 12:e0180665, 2017. Pubmed reference: 28683140. DOI: 10.1371/journal.pone.0180665.

Edit History

  • Created by Frank Nicholas on 07 Jul 2017
  • Changed by Frank Nicholas on 07 Jul 2017
  • Changed by Frank Nicholas on 28 Jan 2020