Details of Disease

General Information of Disease (ID: DISXHPKM)

Disease Name	Copper metabolism disorder
Synonyms	copper Transport disorders; inborn error of cellular copper ion homeostasis; rare inborn error of cellular copper ion homeostasis; inborn cellular copper ion homeostasis disorder
Disease Class	5C64: Mineral absorption/transport disorder
Definition	An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISXEWE2: Disorder of mineral absorption and transport DISXHPKM: Copper metabolism disorder
ICD Code	ICD-11 ICD-11: 5C64.0 ICD-10 ICD-10: E83.0 Expand ICD-11 '5C64.0 Expand ICD-10 'E83.0
Disease Identifiers	MONDO ID MONDO_0017762 UMLS CUI C0012714 MedGen ID 507647 Orphanet ID 309839 SNOMED CT ID 79886009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Patented Agent(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Tihotungstate derivative 1	DM5UI73	Patented	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP7B	TTOPO51	Limited	Genetic Variation	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP7A	DT0LT17	Limited	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP1S1	OTQ2H8DN	Strong	Biomarker	[4]
COMMD1	OT7WUD5R	Strong	Biomarker	[5]
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References

1	Novel NF-B inhibitors: a patent review (2011 - 2014).Expert Opin Ther Pat. 2015 Mar;25(3):319-34.
2	Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.Mol Genet Genomic Med. 2019 May;7(5):e649. doi: 10.1002/mgg3.649. Epub 2019 Mar 18.
3	The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.Dis Model Mech. 2016 Jan;9(1):25-38. doi: 10.1242/dmm.020263.
4	AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. Ann N Y Acad Sci. 2014 May;1314:55-63. doi: 10.1111/nyas.12426. Epub 2014 Apr 22.
5	Canine models of copper toxicosis for understanding mammalian copper metabolism.Mamm Genome. 2012 Feb;23(1-2):62-75. doi: 10.1007/s00335-011-9378-7. Epub 2011 Dec 7.