Categories: Homeostasis / metabolism phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Cross-species summary: inherited glycerolipid storage disease

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

Clinical features: McKenzie et al. (2023) report a primary inherited glycerolipid storage disease in 4 female superb bird-of-paradise siblings: "The birds ranged from 0.75 to 4.3 years of age at the time of death."

Pathology: McKenzie et al. (2023): "Macroscopic findings included hepatomegaly and pallor (4/4), cardiac and renal pallor (2/4), and coelomic effusion (1/4). Microscopic examination found marked tissue distortion due to cytoplasmic lipid vacuoles in hepatocytes (4/4), cardiomyocytes (4/4), renal tubular epithelial cells (4/4), parathyroid gland principal cells (2/2), exocrine pancreatic cells (3/3), and the glandular cells of the ventriculus and proventriculus (3/3). Ultrastructurally, the lipids were deposited in single to coalescing or fused droplets lined by an inconspicuous or discontinuous monolayer membrane. Lipidomic profiling found that the cytoplasmic lipid deposits were primarily composed of triacylglycerols."