MCID: DSR031
MIFTS: 27

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 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 32 E83.0
ICD10 via Orphanet 33 E83.0
UMLS via Orphanet 72 C0012714
Orphanet 58 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 Chelating Agents and Trientine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, 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:

45
# 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 Chelating Agents
2 Trientine

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:

40
Liver, Bone, Brain, Testes, Skin, Eye, Colon

Publications for Disorder of Copper Metabolism

Articles related to Disorder of Copper Metabolism:

(show top 50) (show all 297)
# Title Authors PMID Year
1
Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease. 61
31758979 2020
2
Liver Transplantation in Adults with Wilson Disease for Neuropsychiatric Phenotype: Are we There Yet? 61
32031727 2020
3
Sleep disorders in Wilson disease: a systematic review and meta-analysis. 61
31992405 2020
4
Effect of Liver Transplant on Neurologic Manifestations and Brain Magnetic Resonance Imaging Findings in Wilson Disease. 61
32008504 2020
5
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease. 61
32028086 2020
6
Wilson disease in children and adolescents. 61
31974298 2020
7
Long-Term Correction of Copper Metabolism in Wilson's Disease Mice with AAV8 Vector Delivering Truncated ATP7B. 61
31668086 2019
8
[Liver transplantation in Wilson's disease patients, 1996-2017]. 61
31838861 2019
9
Wilson disease. 61
31421978 2019
10
Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies. 61
31206982 2019
11
Characterization of Fibrinogen as a Key Modulator in Patients with Wilson's Diseases with Functional Proteomic Tools. 61
31547461 2019
12
Long surviving classical Menkes disease treated with weekly intravenous copper therapy. 61
31109608 2019
13
Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome. 61
31338315 2019
14
Pompholyx-Like Eruptions Induced by Penicillamine in a Patient with Wilson's Disease. 61
31516144 2019
15
Targeting Higher Levels of Tau Protein in Ukrainian Patients with Wilson's Disease. 61
30919250 2019
16
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions. 61
30655162 2019
17
A cellular model for Wilson's disease using patient-derived induced pluripotent stem cells revealed aberrant β-catenin pathway during osteogenesis. 61
30967268 2019
18
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease. 61
31205375 2019
19
The global prevalence of Wilson disease from next-generation sequencing data. 61
30254379 2019
20
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis. 61
30809870 2019
21
Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene. 61
30561139 2019
22
Microstructure changes in whiter matter relate to cognitive impairment in Wilson's disease. 61
30804230 2019
23
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis. 61
30452922 2019
24
[Present status of diagnosis and treatment of hepatolenticular degeneration]. 61
30929331 2019
25
[The new aspects of clinical nutrition at Wilson disease: actuality and perspectives]. 61
31722136 2019
26
Recovery of severe acute liver failure without transplantation in patients with Wilson disease. 61
30368998 2018
27
A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient. 61
30558096 2018
28
[Wilson's disease or hepatolenticular degeneration]. 61
30468117 2018
29
Wilson disease. 61
30190489 2018
30
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model. 61
30090842 2018
31
Animal models of Wilson disease. 61
29473169 2018
32
Wilson disease: more than meets the eye. 61
29449431 2018
33
Pregnancy in Wilson's disease: Management and outcome. 61
28859232 2018
34
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways. 61
29473088 2018
35
Complications of Liver Transplant in Adult Patients With the Hepatic Form of Wilson Disease. 61
29527989 2018
36
[Wilson disease]. 61
29340742 2018
37
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. 61
29321352 2017
38
Neuroimaging Changes in Menkes Disease, Part 2. 61
28495940 2017
39
Neuroimaging Changes in Menkes Disease, Part 1. 61
28495946 2017
40
Wilson's disease: Prospective developments towards new therapies. 61
28852304 2017
41
Comparative assessment of clinical rating scales in Wilson's disease. 61
28732478 2017
42
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease. 61
28717664 2017
43
Wilson's Disease in China. 61
28265897 2017
44
Pathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature. 61
28642858 2017
45
Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson's Disease with Diffusion Tensor Imaging. 61
28781902 2017
46
Wilson disease - currently used anticopper therapy. 61
28433101 2017
47
Other organ involvement and clinical aspects of Wilson disease. 61
28433099 2017
48
Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review. 61
27930511 2016
49
Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network. 61
27337370 2016
50
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report. 61
27631241 2016

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.49 ATP7B ATP7A
2 ion transmembrane transport GO:0034220 9.48 ATP7B ATP7A
3 cation transport GO:0006812 9.46 ATP7B ATP7A
4 lactation GO:0007595 9.43 ATP7B ATP7A
5 metal ion transport GO:0030001 9.4 ATP7B ATP7A
6 response to copper ion GO:0046688 9.37 ATP7B ATP7A
7 copper ion transport GO:0006825 9.32 ATP7B ATP7A
8 cellular copper ion homeostasis GO:0006878 9.26 ATP7B ATP7A
9 copper ion import GO:0015677 9.16 ATP7B ATP7A
10 divalent inorganic cation transport GO:0072511 8.96 ATP7B ATP7A
11 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 9.26 ATP7B ATP7A
2 cation-transporting ATPase activity GO:0019829 9.16 ATP7B ATP7A
3 copper ion transmembrane transporter activity GO:0005375 8.96 ATP7B ATP7A
4 copper-transporting ATPase activity GO:0043682 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....