DISEASES

Disease-gene associations mined from literature

Human genes for chylomicron retention disease

Chylomicron retention disease [DOID:0060357]

A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.

Synonyms:  chylomicron retention disease,  DOID:0060357,  chylomicron retention disorder,  chylomicron retention syndrome,  chylomicron retention diseases ...