Phenotypes
Cataract, ADAMTSL4-related
Häfliger et al. (2022): "Whole-genome sequencing of the parent-offspring trio revealed a de novo mutation of ADAMTSL4 in this case. The heterozygous p.Arg776His missense variant affects a conserved residue of the ADAMTSL4 gene that encodes a secreted glycoprotein expressed in the lens throughout embryonic development." The authors were careful to note that "Given that this is a single case investigation and that we have no functional confirmat...
Cataract, generic
No summary available.
Cataract, recessive, CPAMD8-related — Morgagnian cataract
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*)".
Cataract, recessive, NID1-related
As reported by Murgiano et al. (2014), the candidate region (mentioned in the Mapping section above) contains 42 annotated and several uncharacterised genes, none of which are obvious functional candidate genes for this disorder. Analysis of whole-genome sequencing data from of one of the affected calves (~x13.5) and 44 other cattle from 15 breeds narrowed the field of positional candidate causal mutations down to one SNV in an uncharacterised...
Cattle allergen
The cattle allergen can cause disease in some humans.
Caudal and thoracic vertebral and viscerocranial malformation, SLC40A1-related
Jacinto et al. (2025): "A Holstein heifer ... was clinically diagnosed with scoliosis of the caudal vertebra (“crooked tail”), thoracic scoliosis, and skull dysplasia. The [whole genome sequencing based] trio-approach identified a heterozygous missense variant in exon 5 of SLC40A1, affecting the ferroportin-1 domain of SLC40A1 (Chr2:g.6785954 T > A; c.323 T > A; p.Ile108Asn) [omia.variant:1839]. The pathogenic variant most likely arose p...
Cerebellar abiotrophy
No summary available.
Cerebellar abiotrophy, CACNA2D2-related
Jacinto et al. (2026): "Genetic analysis [of two affected Angus calvse] identified a private homozygous missense variant [omia.variant:1852] in the bovine CACNA2D2 gene (XP_024839037.1:p.(Cys395Arg)), which is linked to neurological disorders in other species, including a form of cerebellar atrophy in humans."
Cerebellar cortical atrophy
No summary available.
Cerebellar disease
No summary available.
Cerebellar hypoplasia
No summary available.
Charcot Marie Tooth disease, FGD4-related
Reynolds et al. (2021) report a FGD4 c.1671+1G>A splice donor mutation in New Zealand dairy cattle as likely causal variant for the the bodyweight QTL and Charcot Marie Tooth disease.
Chediak-Higashi syndrome
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.
Cholesterol deficiency, APOB-related — Holstein cholesterol deficiency
[FN thanks Ekkehard Schütz for feedback on an earlier version of the text on this page]
Chondrodysplasia, EVC2-related — bovine chondrodysplastic dwarfism, bcd
Also known as Ellis-van Creveld Syndrome