DISEASES

Disease-gene associations mined from literature

Human genes for Chediak-Higashi syndrome

Chediak-Higashi syndrome [DOID:2935]

Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a microtubule polymerization defect which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy. It occurs in humans, cattle, white tigers, blue Persian cats, Australian blue rats, mice, mink, foxes, and the only known captive albino orca.

Synonyms:  Chediak-Higashi syndrome,  ChediakHigashi syndrome,  Chediak-Higashi disease,  Chediak-Higashi disorder,  DOID:2935 ...