Elliptocytosis
Elliptocytosis
Discussion
Key Comments: considered rare, and while reported as relevant in "mixed breed" and crosses, no specific compositions referenced.
Clinical Comments: Canine elliptocytosis causes normal red blood cells to be oval-shaped with serrated edges as opposed to the normal round shape. Dogs may be mildly anemic, and smaller than litermated. Age of onset from birth. Considered to be rare. Reported in both breed and cross or mixed breed dogs. Considered to be autosomal dominant in inheritance, but this may be in dispute.
Genetics
Inheritance
AD
ADIP
OMIA
001318
OMIA Variant
000037
OMIA URL
https://omia.org/OMIA001318/9615/
OMIN
Gene
SPTB; SPTBN1
Variants
p.(T2110M); c.6384C>T
Variants Comments
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
- Updated