Mutation of the ATP7B gene on chromosome 13 can lead to errors of copper transport leading to an accumulation of copper in the liver, brain, kidneys, and cornea.

The HMBS gene mutation is seen in acute intermittent porphyria. The ATP7A gene mutation is seen in Menke’s disease. The ABCD1 gene mutation is seen in adrenoleukodystrophy, and the GFAP mutation is seen in Alexander disease.