OMIA:001427-9615 : Gangliosidosis, GM2, (AB variant), GM2A-related in Canis lupus familiaris (dog)

In other species: domestic cat

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 272750 (trait) , 613109 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Disease-related: unknown

Cross-species summary: Also known as GM2 gangliosidosis type AB; Tay-Sachs disease type AB;  Gangliosidosis, GM2, GM2A deficiency

Species-specific description: Redundant - retained for data consistancy. Information previously listed here about a GM2 gangliosidosis in Japanese Chin dogs was moved to OMIA:001461-9615 : Gangliosidosis, GM2, type I (B variant) in Canis lupus familiaris (dog) [19/06/2024]

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001427-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Cocostîrc, V., Paștiu, A.I., Pusta, D.L. :
An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) 13:3568, 2023. Pubmed reference: 38003185. DOI: 10.3390/ani13223568.

Edit History


  • Created by Frank Nicholas on 27 Jun 2006
  • Changed by Imke Tammen2 on 19 Jun 2024