disorder of copper metabolism

Findings

No curated finding names disorder of copper metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of mineral absorption and transport

Narrower terms (6)

• autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
• familial benign copper deficiency
• MEDNIK syndrome
• Menkes disease
• occipital horn syndrome
• Wilson disease

Resolves to: disorder of copper metabolism

Also called

inborn cellular copper ion homeostasis disorderinborn error of cellular copper ion homeostasisrare inborn error of cellular copper ion homeostasis