Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of lipoprotein metabolism or certain specified lipidaemias
5C81 Hypolipoproteinaemia
H00159 Tangier disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00159 Tangier disease