Categories: Haematopoietic system phene

Single-gene trait/disorder: unknown

Disease-related: yes

Species summary: see also OMIA:001178-9615 : Stomatocytosis and gastritis in Canis lupus familiaris (dog) and OMIA:000300-9615 : Dwarfism with anaemia in Canis lupus familiaris (dog) for other forms of stomatocytosis.

Molecular basis: Wallace et al. (2025) conducted whole genome sequencing of an affected Beagle and Australian Cattle Dog: "Genetic variants identified in stomatocytosis cases were compared to WGS variant call sets (CanFam3.1) of 119 control dogs and > 1,000 dogs from public and private datasets ... . ... Cases did not carry coding variants consistent with single-variant monogenic inheritance in genes linked to stomatocytosis in humans. ... Association statistics and discordant analyses identified candidate driver or modifier genes for canine stomatocytosis, including candidate variants in known stomatocytosis genes – SPTB and KCNN4. Notably, both affected dogs carried different homozygous intronic SNPs in erythrocytic spectrin beta (SPTB) only 24 bp apart. These variants were not homozygous in any other dog. ... Variants with predicted deleterious impact in additional ion transport-related genes were alsoidentified: SLC8A3,  DYSF,  SLC12A8,  INPP5E, SLC1A1, and a novel SLC41A3 genetic change carried by the Australian Cattle Dog." Further research is required to see if any of the identified variants are disease causing.

Clinical features: Castillo and Williams (2021) report asymptomatic decrease in red blood cells with various morphological changes of the red blood cells (stomatocytes, knizocytes, mild anisocytosis, mild macrocytosis, and mild polychromasia) in a a Beagle and Australian Cattle Dog.

Breeds: Australian Cattle Dog (Dog) (VBO_0200088), Beagle (Dog) (VBO_0200131), Schnauzer, Standard (Dog) (VBO_0201189).
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).