WD
MCID: WLS001
MIFTS: 71

Wilson Disease (WD)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Wilson Disease

MalaCards integrated aliases for Wilson Disease:

Name: Wilson Disease 58 39 12 77 25 54 26 55 60 76 38 30 13 56 6 44 15
Hepatolenticular Degeneration 58 12 54 60 76 45 74
Wilson's Disease 12 77 26 15 41
Wd 58 54 26 76
Wnd 58 54
Hepatolenticular Degeneration Syndrome 26
Westphal-Strumpell Syndrome 12
Cerebral Pseudosclerosis 12
Westphal Pseudosclerosis 12
Copper Storage Disease 26
Wnd; Wd 58

Characteristics:

Orphanet epidemiological data:

60
wilson disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (France),1-9/1000000 (Italy),1-5/10000 (Japan),1-5/10000,1-5/10000 (Ireland),1-9/100000 (Germany); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
incidence in united states of 1 in 55,000
incidence worldwide of 1 in 30,000 to 50,000


HPO:

33
wilson disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wilson Disease

NINDS : 55 Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristic sign of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp. The primary consequence for most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms are neurological, occur later in adulthood, and commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. One-third of individuals with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.

MalaCards based summary : Wilson Disease, also known as hepatolenticular degeneration, is related to liver disease and hemochromatosis, type 1, and has symptoms including seizures, tremor and nausea and vomiting. An important gene associated with Wilson Disease is ATP7B (ATPase Copper Transporting Beta), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Platinum drug resistance. The drugs Zinc and Penicillamine have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and brain, and related phenotypes are depressivity and intellectual disability

Genetics Home Reference : 26 Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.

NIH Rare Diseases : 54 Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.

OMIM : 58 Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease. (277900)

MedlinePlus : 44 Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes. Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it. Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper. With early detection and proper treatment, you can enjoy good health. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

UniProtKB/Swiss-Prot : 76 Wilson disease: An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.

Wikipedia : 77 Wilson''s disease is a genetic disorder in which copper builds up in the body. Symptoms are typically... more...

GeneReviews:

Related Diseases for Wilson Disease

Diseases related to Wilson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 307)
# Related Disease Score Top Affiliating Genes
1 liver disease 30.6 ALB CP F2 GPT HFE SLC17A5
2 hemochromatosis, type 1 30.3 ATP7B CP HFE
3 menkes disease 30.0 ATOX1 ATP7A ATP7B COMMD1 CP DBH
4 hemosiderosis 29.9 CP GPT HFE
5 pyridoxine deficiency 29.7 GPT SLC17A5
6 infantile liver failure syndrome 1 29.6 ALB F2 GPT SLC17A5
7 acute liver failure 29.6 ALB F2 GPT SLC17A5
8 deficiency anemia 29.5 ALB CP HFE
9 alcohol abuse 29.5 DRD2 GPT SLC17A5
10 hepatitis a 29.2 ALB F2 GPT
11 cholecystitis 29.2 ALB F2 GPT
12 hepatic coma 29.0 ALB F2 GPT
13 hellp syndrome 29.0 F2 GPT SLC17A5
14 hepatitis e 29.0 ALB F2 GPT
15 portal hypertension 29.0 ALB F2 GPT
16 cholangitis 29.0 ALB F2 GPT
17 nonalcoholic steatohepatitis 28.9 F2 GPT HFE SLC17A5
18 liver cirrhosis 28.6 ALB F2 GPT HFE SLC17A5
19 hepatic encephalopathy 28.6 ALB F2 GPT SLC17A5
20 hepatitis b 28.6 ALB F2 GPT SLC17A5
21 viral hepatitis 28.4 ALB F2 GPT HFE SLC17A5
22 suprabulbar paresis, congenital 11.3
23 warty dyskeratoma 11.2
24 striatonigral degeneration, infantile 11.1
25 lysosomal acid lipase deficiency 11.1
26 dystonia 11, myoclonic 11.0
27 colorectal cancer 10.6
28 occipital horn syndrome 10.3 ATP7A DBH
29 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.3 ATP7A ATP7B
30 hepatitis 10.2
31 acanthosis nigricans 10.2
32 nephrotic syndrome 10.2
33 antiphospholipid syndrome 10.2
34 hair disease 10.2
35 aminoaciduria 10.2
36 lung cancer 10.2
37 metal metabolism disorder 10.2 ATP7A ATP7B CP HFE
38 hepatocellular carcinoma 10.1
39 paraquat poisoning 10.1 GPT SLC17A5
40 adenocarcinoma 10.1
41 hemolytic anemia 10.1
42 sialuria 10.1 ATP7A SLC17A5
43 autoimmune hepatitis 10.1
44 arthropathy 10.1
45 articulation disorder 10.1 DRD2 SLC17A5
46 retinoblastoma 10.1
47 neuropathy 10.1
48 joint disorders 10.0
49 renal tubular acidosis 10.0
50 hypoparathyroidism 10.0

Graphical network of the top 20 diseases related to Wilson Disease:



Diseases related to Wilson Disease

Symptoms & Phenotypes for Wilson Disease

Human phenotypes related to Wilson Disease:

60 33 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
4 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
5 arthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001369
6 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
8 joint swelling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001386
9 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
10 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
11 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
12 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
13 pathologic fracture 60 33 hallmark (90%) Very frequent (99-80%) HP:0002756
14 hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001397
15 cirrhosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001394
16 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
17 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
18 back pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0003418
19 proximal muscle weakness in lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0008994
20 aggressive behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000718
21 abnormality of the menstrual cycle 60 33 hallmark (90%) Very frequent (99-80%) HP:0000140
22 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
23 abnormality of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001155
24 clumsiness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002312
25 difficulty walking 60 33 hallmark (90%) Very frequent (99-80%) HP:0002355
26 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
27 increased body weight 60 33 hallmark (90%) Very frequent (99-80%) HP:0004324
28 acute hepatic failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0006554
29 hypersexuality 60 33 hallmark (90%) Very frequent (99-80%) HP:0030214
30 kayser-fleischer ring 60 33 hallmark (90%) Very frequent (99-80%) HP:0200032
31 acute hepatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200119
32 elevated hepatic transaminase 33 hallmark (90%) HP:0002910
33 polyneuropathy 33 occasional (7.5%) HP:0001271
34 hepatocellular carcinoma 33 occasional (7.5%) HP:0001402
35 osteoarthritis 33 HP:0002758
36 tremor 33 HP:0001337
37 dysphagia 33 HP:0002015
38 proteinuria 33 HP:0000093
39 renal tubular dysfunction 33 HP:0000124
40 aminoaciduria 33 HP:0003355
41 osteoporosis 33 HP:0000939
42 hepatitis 60 Very frequent (99-80%)
43 hemolytic anemia 33 HP:0001878
44 elevated hepatic transaminases 60 Very frequent (99-80%)
45 dystonia 33 HP:0001332
46 hypoparathyroidism 33 HP:0000829
47 hypercalciuria 33 HP:0002150
48 joint hypermobility 33 HP:0001382
49 dementia 33 HP:0000726
50 coma 33 HP:0001259

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
osteoarthritis
joint hypermobility

Abdomen Liver:
hepatomegaly
hepatic cirrhosis
liver failure
atypical or prolonged hepatitis
hepatic coma
more
Genitourinary Kidneys:
renal tubular dysfunction
renal calculi

Hematology:
hemolytic anemia

Head And Neck Eyes:
kayser-fleischer ring

Neurologic Peripheral Nervous System:
mixed demyelinating and axonal polyneuropathy (rare)

Neurologic Central Nervous System:
dysarthria
tremor
dysphagia
dystonia
dementia
more
Laboratory Abnormalities:
proteinuria
aminoaciduria
hypercalciuria
glycosuria
high nonceruloplasmin-bound serum copper
more
Skeletal:
osteoporosis
osteomalacia
chondrocalcinosis

Endocrine Features:
hypoparathyroidism

Abdomen Gastrointestinal:
esophageal varices

Clinical features from OMIM:

277900

UMLS symptoms related to Wilson Disease:


seizures, tremor, nausea and vomiting, constipation, abdominal pain, back pain, pain, diarrhea, headache, syncope, personality changes, chronic pain, sciatica, icterus, vertigo/dizziness, sleeplessness, dyspepsia, heartburn, gastrointestinal gas

MGI Mouse Phenotypes related to Wilson Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 ALB ATOX1 ATP7A ATP7B CAT COMMD1
2 behavior/neurological MP:0005386 10.16 ATOX1 ATP7A ATP7B CP DBH DRD2
3 growth/size/body region MP:0005378 10.1 ATOX1 ATP7A ATP7B COMMD1 DBH DRD2
4 cardiovascular system MP:0005385 10.03 ATOX1 ATP7A COMMD1 CP DBH DRD2
5 mortality/aging MP:0010768 9.97 ALB ATOX1 ATP7A ATP7B CAT COMMD1
6 liver/biliary system MP:0005370 9.91 ALB ATOX1 ATP7A ATP7B COMMD1 CP
7 integument MP:0010771 9.87 ATOX1 ATP7A ATP7B DBH DRD2 F2
8 nervous system MP:0003631 9.7 ATOX1 ATP7A ATP7B COMMD1 CP DBH
9 pigmentation MP:0001186 9.1 ATOX1 ATP7A ATP7B CP DRD2 SLC31A1

Drugs & Therapeutics for Wilson Disease

Drugs for Wilson Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6 32051
2
Penicillamine Approved Phase 4,Phase 3 52-67-5 5852 4727
3 Trientine Phase 4,Phase 3,Phase 1,Not Applicable
4 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Antirheumatic Agents Phase 4,Phase 3
6 Protective Agents Phase 4,Phase 3
7 Antidotes Phase 4,Phase 3
8
Molybdenum Approved Phase 3,Phase 2 7439-98-7 185498
9
Tetrathiomolybdate Investigational Phase 3,Phase 2 16330-92-0
10 Micronutrients Phase 3,Phase 2,Phase 1,Not Applicable
11 Trace Elements Phase 3,Phase 2,Phase 1,Not Applicable
12 Nutrients Phase 3,Phase 2,Phase 1,Not Applicable
13 Angiogenesis Modulating Agents Phase 3,Phase 2
14 Angiogenesis Inhibitors Phase 3,Phase 2
15
Ethanol Approved Phase 1 64-17-5 702
16
Copper Approved, Investigational Phase 1 7440-50-8 27099
17
Disulfiram Approved Phase 1 97-77-8 3117
18 Liver Extracts Phase 1,Not Applicable
19
Pancrelipase Approved, Investigational 53608-75-6
20
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
21
carbamide peroxide Approved 124-43-6
22
Calcium Approved, Nutraceutical 7440-70-2 271
23 Protein C Inhibitor
24 pancreatin
25 Alpha 1-Antitrypsin
26 alanine Not Applicable
27 Hematinics Not Applicable
28
Bilirubin ,Not Applicable 635-65-4, 69853-43-6 5280352 21252250
29 Calcium, Dietary
30 Aspartic Acid
31 N-Methylaspartate
32 Anesthetics

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Study of Zinc for Wilson Disease Completed NCT00004338 Phase 4 zinc acetate
2 Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine Active, not recruiting NCT02426905 Phase 4 trientine dihydrochloride
3 Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson's Disease in Japan. Completed NCT00212355 Phase 3 NPC-02
4 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3 tetrathiomolybdate;trientine
5 Efficacy and Safety Study of Zinc Acetate to Treat Wilson's Disease in Japan. Completed NCT00212368 Phase 3 Zinc acetate
6 Efficacy and Safety of WTX101 Administered for 48 Weeks Versus Standard of Care in Wilson Disease Subjects Recruiting NCT03403205 Phase 3 WTX101;SOC Therapy
7 Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease Recruiting NCT03539952 Phase 3 TETA 4HCL;Penicillamine
8 Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients Completed NCT02273596 Phase 2 WTX101
9 A Study of Tetrathiomolybdate in the Treatment of Psoriasis Vulgaris Completed NCT00113542 Phase 2 Tetrathiomolybdate (TM)
10 A Phase 1 Study to Assess the Effects in the Body of a Single Dose of Trientine Dihydrochloride in Wilson's Disease Patients Completed NCT01874028 Phase 1 trientine dihydrochloride
11 Phase I Study of Disulfiram and Copper Gluconate for the Treatment of Refractory Solid Tumors Involving the Liver Completed NCT00742911 Phase 1 Disulfiram;Copper Gluconate
12 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1 Vemurafenib and Trientine
13 Inhibitory rTMS in Dystonic Wilson Patients Unknown status NCT01980433 Not Applicable
14 Measurement of Fibrinogen in Patients With Systemic Inflammatory Response Syndrome (SIRS), Sepsis or Chronicle Liver Disease on Intensive Care Units (ICU) Unknown status NCT01169168
15 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Unknown status NCT02851550
16 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Unknown status NCT02852304
17 Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease Completed NCT01472874 Not Applicable Once a day Trientine
18 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 Not Applicable
19 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
20 Natural History of Wilson Disease Recruiting NCT03334292
21 sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis Recruiting NCT02702765 Not Applicable Galactose
22 A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease Patients Recruiting NCT03299829 Trientine
23 Establishment of Human Cellular Disease Models for Wilson Disease Recruiting NCT03867526
24 WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation) Recruiting NCT02552628 Not Applicable
25 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
26 S100β and Neuron Specific Enolase Levels in Liver Transplantation Recruiting NCT03453047
27 Study of Copper Isotope in Head and Neck Cancer Recruiting NCT02864836
28 Evaluation of Patients With Liver Disease Recruiting NCT00001971
29 ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders Recruiting NCT02252380 Not Applicable
30 The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment Active, not recruiting NCT02763215
31 Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson's Disease-related Liver Failure Enrolling by invitation NCT03589820 Not Applicable
32 A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease Not yet recruiting NCT03659331 Not Applicable

Search NIH Clinical Center for Wilson Disease

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: hepatolenticular degeneration

Genetic Tests for Wilson Disease

Genetic tests related to Wilson Disease:

# Genetic test Affiliating Genes
1 Wilson Disease 30 ATP7B

Anatomical Context for Wilson Disease

MalaCards organs/tissues related to Wilson Disease:

42
Liver, Brain, Eye, Testes, Kidney, Skin, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Wilson Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Affected by disease, potential therapeutic candidate

Publications for Wilson Disease

Articles related to Wilson Disease:

(show top 50) (show all 1070)
# Title Authors Year
1
Differential hepatic features presenting in Wilson disease-associated cirrhosis and hepatitis B-associated cirrhosis. ( 30686905 )
2019
2
Metabolic disposition of WTX101 (bis-choline tetrathiomolybdate) in a rat model of Wilson disease. ( 29460662 )
2019
3
Imaging Kayser-Fleischer Ring in Wilson Disease Using In Vivo Confocal Microscopy. ( 30601285 )
2019
4
MR Imaging of the Brain in Neurologic Wilson Disease. ( 30635331 )
2019
5
Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease. ( 30635971 )
2019
6
A Gene Therapy Approach to Improve Copper Metabolism and Prevent Liver Damage in a Mouse Model of Wilson Disease. ( 30693797 )
2019
7
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants. ( 30702195 )
2019
8
Liver expression of a miniATP7B gene results in long-term restoration of copper homeostasis in a Wilson's disease model. ( 30706949 )
2019
9
A Case for Not Going Global: "Americanization" of Diet Accelerates Hepatic Mitochondrial Injury in a Model of Wilson Disease. ( 30707887 )
2019
10
Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers. ( 30709419 )
2019
11
Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment. ( 30746719 )
2019
12
Corrigendum to "Application of carbon sensors for potentiometric determination of copper(II) in water and biological fluids of Wilson disease patients. Studying the surface reaction using SEM, EDX, IR and DFT" [Biosens. Bioelectron. 118 (2018) 122-128]. ( 30852070 )
2019
13
Urinary Abnormalities in Children and Adolescents with Wilson Disease Before and During Treatment with D-Penicillamine. ( 30861190 )
2019
14
Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature. ( 30868361 )
2019
15
AARC-ACLF score: best predictor of outcome in children and adolescents with decompensated Wilson disease. ( 30888628 )
2019
16
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying <i>ATP7B</i> Mutations and Phenotype Correlations in Children with Wilson Disease. ( 29930488 )
2018
17
Wilson disease: more than meets the eye. ( 29449431 )
2018
18
Complications of Liver Transplant in Adult Patients With the Hepatic Form of Wilson Disease. ( 29527989 )
2018
19
Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment. ( 29926258 )
2018
20
WTX101 - an investigational drug for the treatment of Wilson disease. ( 29806946 )
2018
21
Wilson disease and related copper disorders. ( 29325617 )
2018
22
Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods. ( 29979436 )
2018
23
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells. ( 29674751 )
2018
24
The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation. ( 29330485 )
2018
25
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease. ( 29637721 )
2018
26
Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System. ( 29358698 )
2018
27
Novel compound heterozygote mutations inA the ATP7B gene in an Iranian family with Wilson disease: a case report. ( 29540233 )
2018
28
High spatial resolution LA-ICP-MS demonstrates massive liver copper depletion in Wilson disease rats upon Methanobactin treatment. ( 29895360 )
2018
29
Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. ( 29418065 )
2018
30
Value of Serum Zinc in Diagnosing and Assessing Severity of Liver Disease in Children with Wilson Disease. ( 29668570 )
2018
31
Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators. ( 29173477 )
2018
32
An I+B-Crystallin Peptide Rescues Compartmentalization and Trafficking Response to Cu Overload of ATP7B-H1069Q, the Most Frequent Cause of Wilson Disease in the Caucasian Population. ( 29954118 )
2018
33
Advances in Treatment of Wilson Disease. ( 29520330 )
2018
34
Wilson disease and lupus nephritis: is it coincidence or a true association? ( 29528784 )
2018
35
Copper(I)-binding properties of de-coppering drugs for the treatment of Wilson disease. I+-Lipoic acid as a potential anti-copper agent. ( 29362485 )
2018
36
Biochemical and molecular characterisation of neurological Wilson disease. ( 29618506 )
2018
37
Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale. ( 29621974 )
2018
38
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease. ( 29059476 )
2018
39
Anterior Segment Parameters in Patients With Wilson Disease. ( 29303886 )
2018
40
Functional Characterization of Novel <i>ATP7B</i> Variants for Diagnosis of Wilson Disease. ( 29761093 )
2018
41
Brain copper storage after genetic long-term correction in a mouse model of Wilson disease. ( 29845115 )
2018
42
The steady state pharmacokinetics of trientine in Wilson disease patients. ( 29417175 )
2018
43
Magnetic resonance imaging findings in diagnosis and prognosis of Wilson disease. ( 29692820 )
2018
44
Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease. ( 29354285 )
2018
45
Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation. ( 29356957 )
2018
46
Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease. ( 29914392 )
2018
47
Reversible pancytopenia caused by severe copper deficiency in a patient with Wilson disease. ( 29954304 )
2018
48
Reversal of acute liver failure due to Wilson's disease by a regimen of high-volume plasma exchange and penicillamine. ( 30357869 )
2018
49
Recovery of severe acute liver failure without transplantation in patients with Wilson disease. ( 30368998 )
2018
50
Acute Liver Failure due to Wilson Disease: Eight Years of the National Liver Transplant Program in Uruguay. ( 30596600 )
2018

Variations for Wilson Disease

UniProtKB/Swiss-Prot genetic disease variations for Wilson Disease:

76 (show top 50) (show all 183)
# Symbol AA change Variation ID SNP ID
1 ATP7B p.Gly85Val VAR_000703 rs786204643
2 ATP7B p.Leu492Ser VAR_000710
3 ATP7B p.Gly691Arg VAR_000716 rs121908001
4 ATP7B p.Leu708Pro VAR_000717 rs121908000
5 ATP7B p.Gly710Arg VAR_000718
6 ATP7B p.Gly710Ser VAR_000719 rs137853285
7 ATP7B p.Gly711Glu VAR_000720
8 ATP7B p.Tyr713Cys VAR_000721 rs756883878
9 ATP7B p.Ile747Phe VAR_000723
10 ATP7B p.Asp765Asn VAR_000724 rs28942075
11 ATP7B p.Met769Val VAR_000725 rs193922103
12 ATP7B p.Arg778Gly VAR_000727 rs137853284
13 ATP7B p.Arg778Leu VAR_000728 rs28942074
14 ATP7B p.Arg778Gln VAR_000729 rs28942074
15 ATP7B p.Arg778Trp VAR_000730 rs137853284
16 ATP7B p.Pro840Leu VAR_000733 rs768671894
17 ATP7B p.Ile857Thr VAR_000734 rs105752023
18 ATP7B p.Gly869Arg VAR_000736 rs191312027
19 ATP7B p.Ala874Val VAR_000737 rs121907994
20 ATP7B p.Asp918Asn VAR_000738 rs540935874
21 ATP7B p.Arg919Gly VAR_000739 rs121907993
22 ATP7B p.Arg919Trp VAR_000740 rs121907993
23 ATP7B p.Ser921Asn VAR_000741 rs123024128
24 ATP7B p.Thr935Met VAR_000743 rs750019452
25 ATP7B p.Gly943Asp VAR_000744 rs779323689
26 ATP7B p.Gly943Ser VAR_000745 rs28942076
27 ATP7B p.Arg969Gln VAR_000747 rs121907996
28 ATP7B p.Thr977Met VAR_000748 rs72552255
29 ATP7B p.Pro992Leu VAR_000749 rs201038679
30 ATP7B p.Ala1003Thr VAR_000751 rs201497300
31 ATP7B p.Ala1018Val VAR_000752 rs371840514
32 ATP7B p.Gly1035Val VAR_000753 rs753594031
33 ATP7B p.Leu1043Pro VAR_000755 rs141202550
34 ATP7B p.Glu1064Ala VAR_000756 rs374094065
35 ATP7B p.Glu1064Lys VAR_000757 rs376910645
36 ATP7B p.His1069Gln VAR_000758 rs76151636
37 ATP7B p.Leu1083Phe VAR_000759 rs128608017
38 ATP7B p.Gly1089Glu VAR_000760
39 ATP7B p.Gly1089Val VAR_000761
40 ATP7B p.Gly1101Arg VAR_000762 rs786204483
41 ATP7B p.Ile1102Thr VAR_000763 rs560952220
42 ATP7B p.Gln1142His VAR_000766 rs778749563
43 ATP7B p.Val1146Met VAR_000767 rs121348114
44 ATP7B p.Ile1148Thr VAR_000768 rs60431989
45 ATP7B p.Trp1153Cys VAR_000769 rs133062011
46 ATP7B p.Met1169Val VAR_000770 rs749085322
47 ATP7B p.Ala1183Gly VAR_000771 rs587783315
48 ATP7B p.Gly1186Cys VAR_000773
49 ATP7B p.Gly1213Val VAR_000775
50 ATP7B p.Val1216Met VAR_000776 rs776280797

ClinVar genetic disease variations for Wilson Disease:

6 (show top 50) (show all 911)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7B NM_000053.3(ATP7B): c.122A> G (p.Asn41Ser) single nucleotide variant Likely pathogenic rs201738967 GRCh37 Chromosome 13, 52549234: 52549234
2 ATP7B NM_000053.3(ATP7B): c.122A> G (p.Asn41Ser) single nucleotide variant Likely pathogenic rs201738967 GRCh38 Chromosome 13, 51975098: 51975098
3 ATP7B NM_000053.3(ATP7B): c.1877G> C (p.Gly626Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587783299 GRCh37 Chromosome 13, 52536042: 52536042
4 ATP7B NM_000053.3(ATP7B): c.1877G> C (p.Gly626Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587783299 GRCh38 Chromosome 13, 51961906: 51961906
5 ATP7B NM_000053.3(ATP7B): c.1969A> C (p.Ser657Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372436901 GRCh37 Chromosome 13, 52534436: 52534436
6 ATP7B NM_000053.3(ATP7B): c.1969A> C (p.Ser657Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372436901 GRCh38 Chromosome 13, 51960300: 51960300
7 ATP7B NM_000053.3(ATP7B): c.1995G> A (p.Met665Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72552259 GRCh37 Chromosome 13, 52534410: 52534410
8 ATP7B NM_000053.3(ATP7B): c.1995G> A (p.Met665Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72552259 GRCh38 Chromosome 13, 51960274: 51960274
9 ATP7B NM_000053.3(ATP7B): c.2002A> G (p.Met668Val) single nucleotide variant Conflicting interpretations of pathogenicity rs587783301 GRCh37 Chromosome 13, 52534403: 52534403
10 ATP7B NM_000053.3(ATP7B): c.2002A> G (p.Met668Val) single nucleotide variant Conflicting interpretations of pathogenicity rs587783301 GRCh38 Chromosome 13, 51960267: 51960267
11 ATP7B NM_000053.3(ATP7B): c.2175G> A (p.Arg725=) single nucleotide variant Benign/Likely benign rs61733684 GRCh37 Chromosome 13, 52532627: 52532627
12 ATP7B NM_000053.3(ATP7B): c.2175G> A (p.Arg725=) single nucleotide variant Benign/Likely benign rs61733684 GRCh38 Chromosome 13, 51958491: 51958491
13 ATP7B NM_000053.3(ATP7B): c.2355+13T> G single nucleotide variant Benign/Likely benign rs139211339 GRCh37 Chromosome 13, 52532434: 52532434
14 ATP7B NM_000053.3(ATP7B): c.2355+13T> G single nucleotide variant Benign/Likely benign rs139211339 GRCh38 Chromosome 13, 51958298: 51958298
15 ATP7B NM_000053.3(ATP7B): c.2605G> A (p.Gly869Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs191312027 GRCh37 Chromosome 13, 52524268: 52524268
16 ATP7B NM_000053.3(ATP7B): c.2605G> A (p.Gly869Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs191312027 GRCh38 Chromosome 13, 51950132: 51950132
17 ATP7B NM_000053.3(ATP7B): c.2865+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587783306 GRCh37 Chromosome 13, 52523797: 52523797
18 ATP7B NM_000053.3(ATP7B): c.2865+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587783306 GRCh38 Chromosome 13, 51949661: 51949661
19 ATP7B NM_000053.3(ATP7B): c.3011A> C (p.Gln1004Pro) single nucleotide variant Pathogenic rs587783307 GRCh37 Chromosome 13, 52520469: 52520469
20 ATP7B NM_000053.3(ATP7B): c.3011A> C (p.Gln1004Pro) single nucleotide variant Pathogenic rs587783307 GRCh38 Chromosome 13, 51946333: 51946333
21 ATP7B NM_000053.3(ATP7B): c.3188C> T (p.Ala1063Val) single nucleotide variant Conflicting interpretations of pathogenicity rs587783309 GRCh37 Chromosome 13, 52518300: 52518300
22 ATP7B NM_000053.3(ATP7B): c.3188C> T (p.Ala1063Val) single nucleotide variant Conflicting interpretations of pathogenicity rs587783309 GRCh38 Chromosome 13, 51944164: 51944164
23 ATP7B NM_000053.3(ATP7B): c.3324C> T (p.Asn1108=) single nucleotide variant Conflicting interpretations of pathogenicity rs372456815 GRCh37 Chromosome 13, 52516610: 52516610
24 ATP7B NM_000053.3(ATP7B): c.3324C> T (p.Asn1108=) single nucleotide variant Conflicting interpretations of pathogenicity rs372456815 GRCh38 Chromosome 13, 51942474: 51942474
25 ATP7B NM_000053.3(ATP7B): c.3498T> C (p.Ser1166=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783314 GRCh37 Chromosome 13, 52515275: 52515275
26 ATP7B NM_000053.3(ATP7B): c.3498T> C (p.Ser1166=) single nucleotide variant Conflicting interpretations of pathogenicity rs587783314 GRCh38 Chromosome 13, 51941139: 51941139
27 ATP7B NM_000053.3(ATP7B): c.3548C> G (p.Ala1183Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs587783315 GRCh37 Chromosome 13, 52515225: 52515225
28 ATP7B NM_000053.3(ATP7B): c.3548C> G (p.Ala1183Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs587783315 GRCh38 Chromosome 13, 51941089: 51941089
29 ATP7B NM_000053.3(ATP7B): c.3891C> T (p.Val1297=) single nucleotide variant Conflicting interpretations of pathogenicity rs114771537 GRCh37 Chromosome 13, 52511624: 52511624
30 ATP7B NM_000053.3(ATP7B): c.3891C> T (p.Val1297=) single nucleotide variant Conflicting interpretations of pathogenicity rs114771537 GRCh38 Chromosome 13, 51937488: 51937488
31 ATP7B NM_000053.3(ATP7B): c.4021G> A (p.Gly1341Ser) single nucleotide variant Pathogenic rs587783317 GRCh37 Chromosome 13, 52511412: 52511412
32 ATP7B NM_000053.3(ATP7B): c.4021G> A (p.Gly1341Ser) single nucleotide variant Pathogenic rs587783317 GRCh38 Chromosome 13, 51937276: 51937276
33 ATP7B NM_000053.3(ATP7B): c.4039G> A (p.Gly1347Ser) single nucleotide variant Likely pathogenic rs587783318 GRCh37 Chromosome 13, 52509814: 52509814
34 ATP7B NM_000053.3(ATP7B): c.4039G> A (p.Gly1347Ser) single nucleotide variant Likely pathogenic rs587783318 GRCh38 Chromosome 13, 51935678: 51935678
35 ATP7B NM_000053.3(ATP7B): c.3886G> A (p.Asp1296Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199821556 GRCh37 Chromosome 13, 52511629: 52511629
36 ATP7B NM_000053.3(ATP7B): c.3886G> A (p.Asp1296Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199821556 GRCh38 Chromosome 13, 51937493: 51937493
37 ATP7B NM_000053.3(ATP7B): c.4088C> T (p.Ser1363Phe) single nucleotide variant Likely pathogenic rs776848753 GRCh37 Chromosome 13, 52509765: 52509765
38 ATP7B NM_000053.3(ATP7B): c.4088C> T (p.Ser1363Phe) single nucleotide variant Likely pathogenic rs776848753 GRCh38 Chromosome 13, 51935629: 51935629
39 ATP7B NM_000053.3(ATP7B): c.4051C> T (p.Gln1351Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204578 GRCh37 Chromosome 13, 52509802: 52509802
40 ATP7B NM_000053.3(ATP7B): c.4051C> T (p.Gln1351Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204578 GRCh38 Chromosome 13, 51935666: 51935666
41 ATP7B NM_000053.3(ATP7B): c.3895C> T (p.Leu1299Phe) single nucleotide variant Pathogenic/Likely pathogenic rs749472361 GRCh37 Chromosome 13, 52511620: 52511620
42 ATP7B NM_000053.3(ATP7B): c.3895C> T (p.Leu1299Phe) single nucleotide variant Pathogenic/Likely pathogenic rs749472361 GRCh38 Chromosome 13, 51937484: 51937484
43 ATP7B NM_000053.3(ATP7B): c.3818C> T (p.Pro1273Leu) single nucleotide variant Pathogenic/Likely pathogenic rs758355520 GRCh38 Chromosome 13, 51937561: 51937561
44 ATP7B NM_000053.3(ATP7B): c.3818C> T (p.Pro1273Leu) single nucleotide variant Pathogenic/Likely pathogenic rs758355520 GRCh37 Chromosome 13, 52511697: 52511697
45 ATP7B NM_000053.3(ATP7B): c.3649_3654delGTTCTG (p.Val1217_Leu1218del) deletion Likely pathogenic rs781266802 GRCh37 Chromosome 13, 52513232: 52513237
46 ATP7B NM_000053.3(ATP7B): c.3649_3654delGTTCTG (p.Val1217_Leu1218del) deletion Likely pathogenic rs781266802 GRCh38 Chromosome 13, 51939096: 51939101
47 ATP7B NM_000053.3(ATP7B): c.3646G> A (p.Val1216Met) single nucleotide variant Likely pathogenic rs776280797 GRCh38 Chromosome 13, 51939104: 51939104
48 ATP7B NM_000053.3(ATP7B): c.3646G> A (p.Val1216Met) single nucleotide variant Likely pathogenic rs776280797 GRCh37 Chromosome 13, 52513240: 52513240
49 ATP7B NM_000053.3(ATP7B): c.3598C> T (p.Gln1200Ter) single nucleotide variant Likely pathogenic rs786204658 GRCh38 Chromosome 13, 51939152: 51939152
50 ATP7B NM_000053.3(ATP7B): c.3598C> T (p.Gln1200Ter) single nucleotide variant Likely pathogenic rs786204658 GRCh37 Chromosome 13, 52513288: 52513288

Expression for Wilson Disease

Search GEO for disease gene expression data for Wilson Disease.

Pathways for Wilson Disease

Pathways related to Wilson Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ALB ATP7A ATP7B CP SLC17A5 SLC31A1
2 11.36 ATP7A ATP7B SLC31A1
3
Show member pathways
11.17 ATOX1 ATP7A CAT
4 11.04 ATOX1 ATP7A SLC31A1
5 10.75 ATOX1 ATP7A ATP7B COMMD1 SLC31A1
6 10.59 ATP7A ATP7B SLC31A1

GO Terms for Wilson Disease

Cellular components related to Wilson Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.87 ALB CAT CP DBH F2 GPT
2 blood microparticle GO:0072562 9.54 ALB CP F2
3 late endosome GO:0005770 9.43 ATP7A ATP7B SLC31A1
4 recycling endosome GO:0055037 9.33 COMMD1 HFE SLC31A1
5 endoplasmic reticulum lumen GO:0005788 9.26 ALB CP ESD F2
6 cytoplasmic vesicle GO:0031410 9.17 ATP7B COMMD1 DBH DRD2 ESD HFE

Biological processes related to Wilson Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.87 ATOX1 ATP7A ATP7B CP HFE SLC17A5
2 locomotory behavior GO:0007626 9.69 ATP7A DBH DRD2
3 metal ion transport GO:0030001 9.58 ATOX1 ATP7A ATP7B
4 response to lead ion GO:0010288 9.56 ATP7A CAT
5 response to iron ion GO:0010039 9.55 DRD2 HFE
6 response to copper ion GO:0046688 9.54 ATP7A ATP7B
7 dopamine metabolic process GO:0042417 9.52 ATP7A DRD2
8 behavioral response to ethanol GO:0048149 9.49 DBH DRD2
9 cellular response to iron ion GO:0071281 9.48 ATP7A HFE
10 response to inactivity GO:0014854 9.43 CAT DRD2
11 copper ion import GO:0015677 9.43 ATP7A ATP7B SLC31A1
12 copper ion export GO:0060003 9.37 ATP7A ATP7B
13 cellular copper ion homeostasis GO:0006878 9.26 ATOX1 ATP7A ATP7B SLC31A1
14 protein maturation by copper ion transfer GO:0015680 9.16 ATP7B
15 copper ion transmembrane transport GO:0035434 9.16 ATP7B SLC31A1
16 copper ion transport GO:0006825 9.02 ATOX1 ATP7A ATP7B CP SLC31A1

Molecular functions related to Wilson Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.91 ALB CAT COMMD1 DRD2 ESD SLC31A1
2 signaling receptor binding GO:0005102 9.76 CAT DRD2 F2 HFE
3 chaperone binding GO:0051087 9.58 ALB ATP7A CP
4 antioxidant activity GO:0016209 9.48 ALB CAT
5 cation-transporting ATPase activity GO:0019829 9.37 ATP7A ATP7B
6 copper-dependent protein binding GO:0032767 9.32 ATOX1 ATP7A
7 copper-exporting ATPase activity GO:0004008 9.26 ATP7A ATP7B
8 copper ion binding GO:0005507 9.17 ALB ATOX1 ATP7A ATP7B COMMD1 CP
9 copper-transporting ATPase activity GO:0043682 9.16 ATP7A ATP7B
10 copper ion transmembrane transporter activity GO:0005375 9.13 ATP7A ATP7B SLC31A1

Sources for Wilson Disease

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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