MCID: DSR031
MIFTS: 29

Disorder of Copper Metabolism

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorder of Copper Metabolism

MalaCards integrated aliases for Disorder of Copper Metabolism:

Name: Disorder of Copper Metabolism 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

ICD10 33 E83.0
ICD10 via Orphanet 34 E83.0
UMLS via Orphanet 73 C0012714
Orphanet 59 ORPHA309839

Summaries for Disorder of Copper Metabolism

MalaCards based summary : Disorder of Copper Metabolism is related to wilson disease and menkes disease. An important gene associated with Disorder of Copper Metabolism is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. The drugs Trientine and Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, and related phenotypes are Decreased viability after ionizing radiation and pigmentation

Related Diseases for Disorder of Copper Metabolism

Graphical network of the top 20 diseases related to Disorder of Copper Metabolism:



Diseases related to Disorder of Copper Metabolism

Symptoms & Phenotypes for Disorder of Copper Metabolism

GenomeRNAi Phenotypes related to Disorder of Copper Metabolism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after ionizing radiation GR00232-A-2 8.62 ATP7A ATP7B

MGI Mouse Phenotypes related to Disorder of Copper Metabolism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ATP7A ATP7B

Drugs & Therapeutics for Disorder of Copper Metabolism

Drugs for Disorder of Copper Metabolism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Trientine
2 Chelating Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis Completed NCT01378182
2 Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease Completed NCT01472874 Once a day Trientine

Search NIH Clinical Center for Disorder of Copper Metabolism

Genetic Tests for Disorder of Copper Metabolism

Anatomical Context for Disorder of Copper Metabolism

MalaCards organs/tissues related to Disorder of Copper Metabolism:

41
Liver, Bone, Testes, Brain, Skin, Colon, Eye

Publications for Disorder of Copper Metabolism

Articles related to Disorder of Copper Metabolism:

(show top 50) (show all 286)
# Title Authors PMID Year
1
Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome. 38
31338315 2019
2
Wilson disease. 38
31421978 2019
3
Long surviving classical Menkes disease treated with weekly intravenous copper therapy. 38
31109608 2019
4
Targeting Higher Levels of Tau Protein in Ukrainian Patients with Wilson's Disease. 38
30919250 2019
5
Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies. 38
31206982 2019
6
The global prevalence of Wilson disease from next-generation sequencing data. 38
30254379 2019
7
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease. 38
31205375 2019
8
A cellular model for Wilson's disease using patient-derived induced pluripotent stem cells revealed aberrant β-catenin pathway during osteogenesis. 38
30967268 2019
9
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions. 38
30655162 2019
10
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis. 38
30809870 2019
11
Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene. 38
30561139 2019
12
Microstructure changes in whiter matter relate to cognitive impairment in Wilson's disease. 38
30804230 2019
13
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis. 38
30452922 2019
14
[Present status of diagnosis and treatment of hepatolenticular degeneration]. 38
30929331 2019
15
Recovery of severe acute liver failure without transplantation in patients with Wilson disease. 38
30368998 2018
16
A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient. 38
30558096 2018
17
[Wilson's disease or hepatolenticular degeneration]. 38
30468117 2018
18
Wilson disease. 38
30190489 2018
19
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model. 38
30090842 2018
20
Animal models of Wilson disease. 38
29473169 2018
21
Wilson disease: more than meets the eye. 38
29449431 2018
22
Pregnancy in Wilson's disease: Management and outcome. 38
28859232 2018
23
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways. 38
29473088 2018
24
Complications of Liver Transplant in Adult Patients With the Hepatic Form of Wilson Disease. 38
29527989 2018
25
[Wilson disease]. 38
29340742 2018
26
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. 38
29321352 2017
27
Neuroimaging Changes in Menkes Disease, Part 2. 38
28495940 2017
28
Neuroimaging Changes in Menkes Disease, Part 1. 38
28495946 2017
29
Wilson's disease: Prospective developments towards new therapies. 38
28852304 2017
30
Comparative assessment of clinical rating scales in Wilson's disease. 38
28732478 2017
31
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease. 38
28717664 2017
32
Wilson's Disease in China. 38
28265897 2017
33
Pathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature. 38
28642858 2017
34
Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson's Disease with Diffusion Tensor Imaging. 38
28781902 2017
35
Wilson disease - currently used anticopper therapy. 38
28433101 2017
36
Other organ involvement and clinical aspects of Wilson disease. 38
28433099 2017
37
Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review. 38
27930511 2016
38
Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network. 38
27337370 2016
39
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. 38
27631241 2016
40
Linkage Analysis based on Four Microsatellite Markers to Screen for Unknown Mutation in Families with Wilson Disease. 38
28164604 2016
41
Wilson disease: Health-related quality of life and risk for depression. 38
26549350 2016
42
Neurological features and management of Wilson disease in children: an evaluation of 12 cases. 38
27103860 2016
43
ATP7B Gene Mutations in Croatian Patients with Wilson Disease. 38
26799313 2016
44
Subclinical neurological involvement does not develop if Wilson's disease is treated early. 38
26851839 2016
45
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease. 38
26819605 2016
46
Psychiatric disturbances as a first clinical symptom of Wilson's disease - case report. 38
27288679 2016
47
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 38
27022412 2016
48
Influence of Ogg1 repair on the genetic stability of ccc2 mutant of Saccharomyces cerevisiae chemically challenged with 4-nitroquinoline-1-oxide (4-NQO). 38
26275420 2016
49
Current Drug Managements of Wilson's Disease: From West to East. 38
26639459 2016
50
Acute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors. 38
26807378 2015

Variations for Disorder of Copper Metabolism

Expression for Disorder of Copper Metabolism

Search GEO for disease gene expression data for Disorder of Copper Metabolism.

Pathways for Disorder of Copper Metabolism

GO Terms for Disorder of Copper Metabolism

Cellular components related to Disorder of Copper Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.26 ATP7B ATP7A
2 basolateral plasma membrane GO:0016323 9.16 ATP7B ATP7A
3 trans-Golgi network GO:0005802 8.96 ATP7B ATP7A
4 late endosome GO:0005770 8.62 ATP7B ATP7A

Biological processes related to Disorder of Copper Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.48 ATP7B ATP7A
2 cation transport GO:0006812 9.46 ATP7B ATP7A
3 lactation GO:0007595 9.43 ATP7B ATP7A
4 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.4 ATP7B ATP7A
5 metal ion transport GO:0030001 9.37 ATP7B ATP7A
6 response to copper ion GO:0046688 9.32 ATP7B ATP7A
7 copper ion transport GO:0006825 9.26 ATP7B ATP7A
8 cellular copper ion homeostasis GO:0006878 9.16 ATP7B ATP7A
9 copper ion import GO:0015677 8.96 ATP7B ATP7A
10 copper ion export GO:0060003 8.62 ATP7B ATP7A

Molecular functions related to Disorder of Copper Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.32 ATP7B ATP7A
2 cation-transporting ATPase activity GO:0019829 9.26 ATP7B ATP7A
3 copper ion transmembrane transporter activity GO:0005375 9.16 ATP7B ATP7A
4 copper-transporting ATPase activity GO:0043682 8.96 ATP7B ATP7A
5 copper-exporting ATPase activity GO:0004008 8.62 ATP7B ATP7A

Sources for Disorder of Copper Metabolism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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