WD
MCID: WLS001
MIFTS: 70

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 57 38 12 76 24 53 25 54 59 75 37 29 13 55 6 43 15
Hepatolenticular Degeneration 57 12 24 53 59 75 44 73
Wilson's Disease 12 76 25 15 40
Wd 57 53 25 75
Wnd 57 53
Hepatolenticular Degeneration Syndrome 25
Westphal-Strumpell Syndrome 12
Cerebral Pseudosclerosis 12
Westphal Pseudosclerosis 12
Copper Storage Disease 25
Wnd; Wd 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
wilson disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wilson Disease

NINDS : 54 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 menkes disease, 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 : 25 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 : 53 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 : 57 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 : 43 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 : 75 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 : 76 Wilson''s disease is a genetic disorder in which copper builds up in the body. Symptoms are typically... more...

GeneReviews: NBK1512

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 191)
# Related Disease Score Top Affiliating Genes
1 liver disease 31.2 ALB CP F2 GPT HFE TF
2 menkes disease 30.2 ATOX1 ATP7A ATP7B COMMD1 CP
3 infantile liver failure syndrome 1 30.2 ALB F2 GPT
4 acute liver failure 30.1 ALB F2 GPT
5 hemochromatosis, type 1 29.8 ATP7B CP HFE TF
6 aceruloplasminemia 29.6 CP HFE TF
7 hemosiderosis 29.4 CP GPT HFE TF
8 liver cirrhosis 28.8 ALB F2 GPT HFE TF
9 suprabulbar paresis, congenital 11.3
10 warty dyskeratoma 11.2
11 lysosomal acid lipase deficiency 11.1
12 dystonia 11, myoclonic 11.0
13 colorectal cancer 10.5
14 swayback 10.2 CP HFE
15 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 ATP7A ATP7B
16 acanthosis nigricans 10.2
17 nephrotic syndrome 10.2
18 antiphospholipid syndrome 10.2
19 hair disease 10.2
20 aminoaciduria 10.2
21 hyperferritinemia with or without cataract 10.2 HFE TF
22 hypochromic microcytic anemia 10.2 CP TF
23 hepatitis 10.2
24 ancylostomiasis 10.1 CP TF
25 lung cancer 10.1
26 hemochromatosis, type 4 10.1 HFE TF
27 iron metabolism disease 10.1 CP HFE TF
28 atransferrinemia 10.1 CP HFE TF
29 cryptogenic cirrhosis 10.1 F2 HFE
30 hepatocellular carcinoma 10.1
31 inherited metabolic disorder 10.1 ATP7B HFE TF
32 orbital cyst 10.1 F2 TF
33 iron overload in africa 10.1 HFE TF
34 hemolytic anemia 10.1
35 hepatoportal sclerosis 10.0 F2 GPT
36 multiple sclerosis 10.0
37 tetralogy of fallot 10.0
38 rickets 10.0
39 myoclonus epilepsy 10.0
40 sarcoma 10.0
41 adenocarcinoma 10.0
42 retinoblastoma 10.0
43 squamous cell carcinoma, head and neck 10.0
44 melioidosis 10.0
45 colorectal adenoma 10.0
46 renal oncocytoma 10.0
47 tongue squamous cell carcinoma 10.0
48 polycystic kidney disease 10.0
49 hepatosplenic t-cell lymphoma 10.0
50 hepatitis d 10.0 F2 GPT

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



Diseases related to Wilson Disease

Symptoms & Phenotypes for Wilson Disease

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Wilson Disease:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
6 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
8 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
9 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
10 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
11 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
12 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
13 pathologic fracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0002756
14 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
15 cirrhosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001394
16 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
17 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
18 back pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0003418
19 proximal muscle weakness in lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0008994
20 aggressive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000718
21 abnormality of the menstrual cycle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000140
22 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
23 abnormality of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001155
24 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
25 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
26 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
27 increased body weight 59 32 hallmark (90%) Very frequent (99-80%) HP:0004324
28 acute hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0006554
29 hypersexuality 59 32 hallmark (90%) Very frequent (99-80%) HP:0030214
30 kayser-fleischer ring 59 32 hallmark (90%) Very frequent (99-80%) HP:0200032
31 acute hepatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200119
32 osteoarthritis 32 HP:0002758
33 tremor 32 HP:0001337
34 dysphagia 32 HP:0002015
35 proteinuria 32 HP:0000093
36 renal tubular dysfunction 32 HP:0000124
37 aminoaciduria 32 HP:0003355
38 osteoporosis 32 HP:0000939
39 hepatitis 59 Very frequent (99-80%)
40 hemolytic anemia 32 HP:0001878
41 elevated hepatic transaminases 59 Very frequent (99-80%)
42 dystonia 32 HP:0001332
43 hypoparathyroidism 32 HP:0000829
44 hypercalciuria 32 HP:0002150
45 joint hypermobility 32 HP:0001382
46 dementia 32 HP:0000726
47 coma 32 HP:0001259
48 nephrolithiasis 32 HP:0000787
49 osteomalacia 32 HP:0002749
50 hepatic failure 32 HP:0001399

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ALB ATOX1 ATP7A ATP7B CAT COMMD1
2 mortality/aging MP:0010768 9.93 ALB ATOX1 ATP7A ATP7B CAT COMMD1
3 liver/biliary system MP:0005370 9.91 ALB ATOX1 ATP7A ATP7B COMMD1 CP
4 nervous system MP:0003631 9.61 ATOX1 ATP7A ATP7B COMMD1 CP DRD2
5 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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6
2
Penicillamine Approved Phase 4,Phase 3 52-67-5 4727 5852
3 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Trientine Phase 4,Phase 3,Phase 1,Not Applicable
5 Protective Agents Phase 4,Phase 3
6 Antirheumatic Agents Phase 4,Phase 3
7 Antidotes Phase 4,Phase 3
8
Molybdenum Approved Phase 3,Phase 2 7439-98-7 185498
9 Micronutrients Phase 3,Phase 2,Phase 1,Not Applicable
10 Tetrathiomolybdate Phase 3,Phase 2
11 Trace Elements Phase 3,Phase 2,Phase 1,Not Applicable
12 Angiogenesis Modulating Agents Phase 3,Phase 2
13 Angiogenesis Inhibitors Phase 3,Phase 2
14
Disulfiram Approved Phase 1 97-77-8 3117
15
Ethanol Approved Phase 1 64-17-5 702
16
Copper Approved, Investigational Phase 1 7440-50-8 27099
17 Liver Extracts Phase 1,Not Applicable
18
Pancrelipase Approved, Investigational 53608-75-6
19
Iron Approved 7439-89-6 23925
20 Protein C Inhibitor
21 Alpha 1-Antitrypsin
22 pancreatin
23 Hematinics Not Applicable
24 alanine Not Applicable
25
Bilirubin ,Not Applicable 635-65-4 5280352
26 Aspartic Acid
27 Calcium, Dietary
28 N-Methylaspartate
29 Anesthetics

Interventional clinical trials:

(show all 31)
# 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 WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation) Recruiting NCT02552628 Not Applicable
24 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
25 S100β and Neuron Specific Enolase Levels in Liver Transplantation Recruiting NCT03453047
26 Study of Copper Isotope in Head and Neck Cancer Recruiting NCT02864836
27 Evaluation of Patients With Liver Disease Recruiting NCT00001971
28 ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders Recruiting NCT02252380 Not Applicable
29 The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment Active, not recruiting NCT02763215
30 Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson's Disease-related Liver Failure Enrolling by invitation NCT03589820 Not Applicable
31 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 73 / NDF-RT 51 :


Cochrane evidence based reviews: hepatolenticular degeneration

Genetic Tests for Wilson Disease

Genetic tests related to Wilson Disease:

# Genetic test Affiliating Genes
1 Wilson Disease 29 ATP7B

Anatomical Context for Wilson Disease

MalaCards organs/tissues related to Wilson Disease:

41
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 1049)
# Title Authors Year
1
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
2
Wilson disease: more than meets the eye. ( 29449431 )
2018
3
Complications of Liver Transplant in Adult Patients With the Hepatic Form of Wilson Disease. ( 29527989 )
2018
4
Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment. ( 29926258 )
2018
5
WTX101 - an investigational drug for the treatment of Wilson disease. ( 29806946 )
2018
6
Wilson disease and related copper disorders. ( 29325617 )
2018
7
Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods. ( 29979436 )
2018
8
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells. ( 29674751 )
2018
9
The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation. ( 29330485 )
2018
10
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease. ( 29637721 )
2018
11
Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System. ( 29358698 )
2018
12
Novel compound heterozygote mutations inA the ATP7B gene in an Iranian family with Wilson disease: a case report. ( 29540233 )
2018
13
High spatial resolution LA-ICP-MS demonstrates massive liver copper depletion in Wilson disease rats upon Methanobactin treatment. ( 29895360 )
2018
14
Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. ( 29418065 )
2018
15
Value of Serum Zinc in Diagnosing and Assessing Severity of Liver Disease in Children with Wilson Disease. ( 29668570 )
2018
16
Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators. ( 29173477 )
2018
17
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
18
Advances in Treatment of Wilson Disease. ( 29520330 )
2018
19
Wilson disease and lupus nephritis: is it coincidence or a true association? ( 29528784 )
2018
20
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
21
Biochemical and molecular characterisation of neurological Wilson disease. ( 29618506 )
2018
22
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
23
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease. ( 29059476 )
2018
24
Anterior Segment Parameters in Patients With Wilson Disease. ( 29303886 )
2018
25
Functional Characterization of Novel <i>ATP7B</i> Variants for Diagnosis of Wilson Disease. ( 29761093 )
2018
26
Brain copper storage after genetic long-term correction in a mouse model of Wilson disease. ( 29845115 )
2018
27
The steady state pharmacokinetics of trientine in Wilson disease patients. ( 29417175 )
2018
28
Magnetic resonance imaging findings in diagnosis and prognosis of Wilson disease. ( 29692820 )
2018
29
Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease. ( 29354285 )
2018
30
Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation. ( 29356957 )
2018
31
Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease. ( 29914392 )
2018
32
Recovery of severe acute liver failure without transplantation in patients with Wilson disease. ( 30368998 )
2018
33
Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease. ( 30026388 )
2018
34
Reversible pancytopenia caused by severe copper deficiency in a patient with Wilson disease. ( 29954304 )
2018
35
Metabolic disposition of WTX101 (bis-choline tetrathiomolybdate) in a rat model of Wilson disease. ( 29460662 )
2018
36
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways. ( 29473088 )
2018
37
Animal models of Wilson disease. ( 29473169 )
2018
38
Electrocardiographic Manifestations In Paediatric Wilson Disease. ( 29504323 )
2018
39
Mitochondrial copper homeostasis and its derailment in Wilson disease. ( 29997057 )
2018
40
Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease. ( 30010856 )
2018
41
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. ( 30059866 )
2018
42
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. ( 30087448 )
2018
43
Liver histology and histochemistry in Wilson disease. ( 30101132 )
2018
44
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications. ( 30120852 )
2018
45
Only the tip of the Iceberg? Role of ATP7B-exon skipping in Wilson disease. ( 30133932 )
2018
46
A Luminal Loop of Wilson Disease Protein Binds Copper and Is Required for Protein Activity. ( 30173886 )
2018
47
Wilson disease. ( 30190465 )
2018
48
Wilson disease. ( 30190489 )
2018
49
Age,sex, but not ATP7B genotype effectively influences the clinical phenotype of Wilson disease. ( 30232804 )
2018
50
The global prevalence of Wilson disease from next-generation sequencing data. ( 30254379 )
2018

Variations for Wilson Disease

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

75 (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
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 893)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7B ATP7B, 7-BP DEL, NT2010 deletion Pathogenic
2 ATP7B ATP7B, 1-BP DEL, 2337C deletion Pathogenic
3 ATP7B ATP7B, 1-BP INS, NT2487 insertion Pathogenic
4 ATP7B NM_000053.3(ATP7B): c.3207C> A (p.His1069Gln) single nucleotide variant Pathogenic rs76151636 GRCh37 Chromosome 13, 52518281: 52518281
5 ATP7B NM_000053.3(ATP7B): c.3207C> A (p.His1069Gln) single nucleotide variant Pathogenic rs76151636 GRCh38 Chromosome 13, 51944145: 51944145
6 ATP7B NM_000053.3(ATP7B): c.3796G> A (p.Gly1266Arg) single nucleotide variant Pathogenic rs121907992 GRCh37 Chromosome 13, 52511719: 52511719
7 ATP7B NM_000053.3(ATP7B): c.3796G> A (p.Gly1266Arg) single nucleotide variant Pathogenic rs121907992 GRCh38 Chromosome 13, 51937583: 51937583
8 ATP7B NM_000053.3(ATP7B): c.1708-1G> C single nucleotide variant Likely pathogenic rs137853280 GRCh37 Chromosome 13, 52539170: 52539170
9 ATP7B NM_000053.3(ATP7B): c.1708-1G> C single nucleotide variant Likely pathogenic rs137853280 GRCh38 Chromosome 13, 51965034: 51965034
10 ATP7B NM_000053.3(ATP7B): c.2621C> T (p.Ala874Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121907994 GRCh37 Chromosome 13, 52524252: 52524252
11 ATP7B NM_000053.3(ATP7B): c.2621C> T (p.Ala874Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121907994 GRCh38 Chromosome 13, 51950116: 51950116
12 ATP7B NM_000053.3(ATP7B): c.2333G> T (p.Arg778Leu) single nucleotide variant Pathogenic rs28942074 GRCh37 Chromosome 13, 52532469: 52532469
13 ATP7B NM_000053.3(ATP7B): c.2333G> T (p.Arg778Leu) single nucleotide variant Pathogenic rs28942074 GRCh38 Chromosome 13, 51958333: 51958333
14 ATP7B ATP7B, 15-BP DEL, NT-441 deletion Pathogenic
15 ATP7B ATP7B, 3-BP DEL, 3892GTC deletion Pathogenic
16 ATP7B NM_000053.3(ATP7B): c.2293G> A (p.Asp765Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942075 GRCh37 Chromosome 13, 52532509: 52532509
17 ATP7B NM_000053.3(ATP7B): c.2293G> A (p.Asp765Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942075 GRCh38 Chromosome 13, 51958373: 51958373
18 ATP7B NM_000053.3(ATP7B): c.2827G> A (p.Gly943Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28942076 GRCh37 Chromosome 13, 52523836: 52523836
19 ATP7B NM_000053.3(ATP7B): c.2827G> A (p.Gly943Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28942076 GRCh38 Chromosome 13, 51949700: 51949700
20 ATP7B NM_000053.3(ATP7B): c.2755C> G (p.Arg919Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121907993 GRCh37 Chromosome 13, 52523908: 52523908
21 ATP7B NM_000053.3(ATP7B): c.2755C> G (p.Arg919Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121907993 GRCh38 Chromosome 13, 51949772: 51949772
22 ATP7B ATP7B, 1-BP DEL, 2511A deletion Pathogenic
23 ATP7B NM_000053.3(ATP7B): c.3809A> G (p.Asn1270Ser) single nucleotide variant Pathogenic rs121907990 GRCh37 Chromosome 13, 52511706: 52511706
24 ATP7B NM_000053.3(ATP7B): c.3809A> G (p.Asn1270Ser) single nucleotide variant Pathogenic rs121907990 GRCh38 Chromosome 13, 51937570: 51937570
25 ATP7B NM_000053.3(ATP7B): c.2906G> A (p.Arg969Gln) single nucleotide variant Pathogenic rs121907996 GRCh37 Chromosome 13, 52520574: 52520574
26 ATP7B NM_000053.3(ATP7B): c.2906G> A (p.Arg969Gln) single nucleotide variant Pathogenic rs121907996 GRCh38 Chromosome 13, 51946438: 51946438
27 ATP7B NM_000053.3(ATP7B): c.2297C> G (p.Thr766Arg) single nucleotide variant Pathogenic rs121907997 GRCh37 Chromosome 13, 52532505: 52532505
28 ATP7B NM_000053.3(ATP7B): c.2297C> G (p.Thr766Arg) single nucleotide variant Pathogenic rs121907997 GRCh38 Chromosome 13, 51958369: 51958369
29 ATP7B NM_000053.3(ATP7B): c.1934T> G (p.Met645Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121907998 GRCh37 Chromosome 13, 52535985: 52535985
30 ATP7B NM_000053.3(ATP7B): c.1934T> G (p.Met645Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121907998 GRCh38 Chromosome 13, 51961849: 51961849
31 ATP7B NM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr) single nucleotide variant Pathogenic/Likely pathogenic rs60431989 GRCh37 Chromosome 13, 52515330: 52515330
32 ATP7B NM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr) single nucleotide variant Pathogenic/Likely pathogenic rs60431989 GRCh38 Chromosome 13, 51941194: 51941194
33 ATP7B NM_000053.3(ATP7B): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121907999 GRCh37 Chromosome 13, 52548491: 52548491
34 ATP7B NM_000053.3(ATP7B): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121907999 GRCh38 Chromosome 13, 51974355: 51974355
35 ATP7B NM_000053.3(ATP7B): c.2123T> C (p.Leu708Pro) single nucleotide variant Pathogenic rs121908000 GRCh37 Chromosome 13, 52532679: 52532679
36 ATP7B NM_000053.3(ATP7B): c.2123T> C (p.Leu708Pro) single nucleotide variant Pathogenic rs121908000 GRCh38 Chromosome 13, 51958543: 51958543
37 ATP7B NM_000053.3(ATP7B): c.2071G> A (p.Gly691Arg) single nucleotide variant Likely pathogenic rs121908001 GRCh37 Chromosome 13, 52534334: 52534334
38 ATP7B NM_000053.3(ATP7B): c.2071G> A (p.Gly691Arg) single nucleotide variant Likely pathogenic rs121908001 GRCh38 Chromosome 13, 51960198: 51960198
39 ATP7B NM_000053.3(ATP7B): c.3526G> A (p.Gly1176Arg) single nucleotide variant no interpretation for the single variant rs137853279 GRCh37 Chromosome 13, 52515247: 52515247
40 ATP7B NM_000053.3(ATP7B): c.3526G> A (p.Gly1176Arg) single nucleotide variant no interpretation for the single variant rs137853279 GRCh38 Chromosome 13, 51941111: 51941111
41 ALG11; ATP7B NM_000053.3(ATP7B): c.-123_-119dupCGCCG duplication Conflicting interpretations of pathogenicity rs148013251 GRCh37 Chromosome 13, 52585592: 52585596
42 ALG11; ATP7B NM_000053.3(ATP7B): c.-123_-119dupCGCCG duplication Conflicting interpretations of pathogenicity rs148013251 GRCh38 Chromosome 13, 52011456: 52011460
43 ATP7B NM_000053.3(ATP7B): c.-74C> A single nucleotide variant Uncertain significance rs193922101 GRCh37 Chromosome 13, 52585547: 52585547
44 ATP7B NM_000053.3(ATP7B): c.-74C> A single nucleotide variant Uncertain significance rs193922101 GRCh38 Chromosome 13, 52011411: 52011411
45 ATP7B NM_000053.3(ATP7B): c.1216T> G (p.Ser406Ala) single nucleotide variant Benign/Likely benign rs1801243 GRCh37 Chromosome 13, 52548140: 52548140
46 ATP7B NM_000053.3(ATP7B): c.1216T> G (p.Ser406Ala) single nucleotide variant Benign/Likely benign rs1801243 GRCh38 Chromosome 13, 51974004: 51974004
47 ATP7B NM_000053.3(ATP7B): c.1366G> C (p.Val456Leu) single nucleotide variant Benign/Likely benign rs1801244 GRCh37 Chromosome 13, 52544805: 52544805
48 ATP7B NM_000053.3(ATP7B): c.1366G> C (p.Val456Leu) single nucleotide variant Benign/Likely benign rs1801244 GRCh38 Chromosome 13, 51970669: 51970669
49 ATP7B NM_000053.3(ATP7B): c.1607T> C (p.Val536Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138427376 GRCh37 Chromosome 13, 52542680: 52542680
50 ATP7B NM_000053.3(ATP7B): c.1607T> C (p.Val536Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138427376 GRCh38 Chromosome 13, 51968544: 51968544

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 SLC31A1 TF
2 11.36 ATP7A ATP7B SLC31A1
3
Show member pathways
11.17 ATOX1 ATP7A CAT
4 10.96 ATOX1 ATP7A SLC31A1 TF
5 10.79 ATP7A ATP7B SLC31A1
6 10.75 ATOX1 ATP7A ATP7B COMMD1 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 9.98 ALB CAT CP F2 GPT HFE
2 cytoplasmic vesicle GO:0031410 9.8 ATP7B COMMD1 DRD2 ESD HFE TF
3 blood microparticle GO:0072562 9.56 ALB CP F2 TF
4 late endosome GO:0005770 9.46 ATP7A ATP7B SLC31A1 TF
5 basal part of cell GO:0045178 9.4 HFE TF
6 HFE-transferrin receptor complex GO:1990712 9.37 HFE TF
7 recycling endosome GO:0055037 9.26 COMMD1 HFE SLC31A1 TF
8 endoplasmic reticulum lumen GO:0005788 9.02 ALB CP ESD F2 TF

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 ATOX1 ATP7A ATP7B CP HFE SLC31A1
2 post-translational protein modification GO:0043687 9.85 ALB COMMD1 CP TF
3 cellular protein metabolic process GO:0044267 9.83 ALB CP F2 TF
4 cellular iron ion homeostasis GO:0006879 9.69 CP HFE TF
5 metal ion transport GO:0030001 9.61 ATOX1 ATP7A ATP7B
6 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
7 response to lead ion GO:0010288 9.58 ATP7A CAT
8 response to iron ion GO:0010039 9.57 DRD2 HFE
9 response to copper ion GO:0046688 9.56 ATP7A ATP7B
10 dopamine metabolic process GO:0042417 9.54 ATP7A DRD2
11 cellular response to iron ion GO:0071281 9.5 ATP7A HFE TF
12 protein maturation by copper ion transfer GO:0015680 9.49 ATOX1 ATP7B
13 regulation of iron ion import GO:1900390 9.48 HFE TF
14 response to inactivity GO:0014854 9.46 CAT DRD2
15 copper ion import GO:0015677 9.43 ATP7A ATP7B SLC31A1
16 copper ion export GO:0060003 9.4 ATP7A ATP7B
17 copper ion transmembrane transport GO:0035434 9.33 ATOX1 ATP7B SLC31A1
18 cellular copper ion homeostasis GO:0006878 9.26 ATOX1 ATP7A ATP7B SLC31A1
19 copper ion transport GO:0006825 9.02 ATOX1 ATP7A ATP7B CP SLC31A1

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

(show all 11)
# 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 9.78 CAT DRD2 F2 HFE
3 chaperone binding GO:0051087 9.63 ALB ATP7A CP
4 antioxidant activity GO:0016209 9.49 ALB CAT
5 cation-transporting ATPase activity GO:0019829 9.4 ATP7A ATP7B
6 transferrin receptor binding GO:1990459 9.37 HFE TF
7 copper-dependent protein binding GO:0032767 9.32 ATOX1 ATP7A
8 copper-exporting ATPase activity GO:0004008 9.26 ATP7A ATP7B
9 copper ion transmembrane transporter activity GO:0005375 9.26 ATOX1 ATP7A ATP7B SLC31A1
10 copper-transporting ATPase activity GO:0043682 9.16 ATP7A ATP7B
11 copper ion binding GO:0005507 9.1 ALB ATOX1 ATP7A ATP7B COMMD1 CP

Sources for Wilson Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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