Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 185000 (trait) , 194380 (trait) , 185020 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Abnormal red blood cell morphology (central zone of pallor has a 'mouthlike' pattern) and hypertrophic gastritis

Species-specific name: Familial stomatocytosis hypertrophic gastritis

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Slappendel et al. (1991): "The main clinical problems were diarrhoea, icterus, and ataxia and paresis of the pelvic limbs. Laboratory evaluation revealed abnormal red cell shape (stomatocytosis), increased osmotic fragility, haemolytic anaemia, and increased liver enzymes and serum bilirubin. Gastroscopic and histopathologic examination of the gastric mucosa revealed hypertrophic gastritis resembling Ménétrier's disease in man. ... Electroneurography in 2 dogs revealed polyneuropathy."

Pathology: Slappendel et al. (1991): "Histologic findings in the liver were suggestive of progressive liver disease. Cysts were found in the kidneys of the five oldest patients."