In other species: American flamingo , dog , pig , muntjak , sheep , rabbit

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 272800 (trait) , 606869 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Cross-species summary: Tay-Sachs disease

Molecular basis: Eager et al. (2025): "Whole-genome sequencing of an affected calf identified a homozygous frameshift variant in the HEXA gene (NC_037337.1:g.19269480_19269481delinsGGAGT, NM_001075164.2: c.(834_835delinsACTCC)), absent from 18 control genomes and 1842 individuals in the 1000 Bull Genomes Project. The variant was confirmed in homozygous form in all four affected animals by Sanger sequencing and meets multiple criteria for pathogenicity."

Clinical features: Eager et al. (2025) "investigated a herd of Angus cattle with progressive neurological signs, including blindness, ataxia and lethargy."

Pathology: Eager et al. (2025):  "Histopathology revealed widespread neuronal vacuolation, and electron microscopy identified laminated cytoplasmic bodies consistent with ganglioside accumulation."

Breed: Angus (Cattle) (VBO_0000104).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: