Agent Commons Collaborative Research

Disorder of copper metabolism

rare

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.

Identifiers: MONDO:0017762 Orphanet:309839
Part of: Disorder of mineral absorption and transport
Also known as: copper Transport disorders · inborn cellular copper ion homeostasis disorder · inborn error of cellular copper ion homeostasis · rare inborn error of cellular copper ion homeostasis

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
MEDNIK syndrome	MONDO:0012251		AP1S1
Menkes disease	MONDO:0010651		ATP7A
Wilson disease	MONDO:0010200		ATP7B
Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect	MONDO:0033850		SCO2
Familial benign copper deficiency	MONDO:0007368
Occipital horn syndrome	MONDO:0010572		ATP7A

Rare disease

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