MCID: WLS001
MIFTS: 71

Wilson Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases, Gastrointestinal 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 53 59 75 44 73
Wilson's Disease 12 76 25 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
Rala Protein, Rat 44
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 hemochromatosis, type 1 and aceruloplasminemia, and has symptoms including abdominal pain, back pain and constipation. 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

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)

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.

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.

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

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.

Wikipedia : 76 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 159)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 1 29.7 ATP7B CP HFE TF
2 aceruloplasminemia 29.6 CP HFE TF
3 menkes disease 29.4 ATOX1 ATP7A ATP7B COMMD1 CP LOX
4 acute liver failure 29.0 ALB F2 GPT
5 liver disease 28.8 ALB CP F2 GPT HFE TF
6 hemosiderosis 28.7 CP GPT HFE TF
7 liver cirrhosis 26.7 ALB F2 GPT HFE TF
8 suprabulbar paresis, congenital 11.1
9 warty dyskeratoma 11.0
10 lysosomal acid lipase deficiency 10.9
11 dystonia 11, myoclonic 10.8
12 swayback 10.7 CP HFE
13 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.6 ATP7A ATP7B
14 occipital horn syndrome 10.6 ATP7A LOX
15 iron overload in africa 10.5 HFE TF
16 hyperferritinemia with or without cataract 10.4 HFE TF
17 hypochromic microcytic anemia 10.4 CP TF
18 colorectal cancer 10.4
19 hepatitis 10.3
20 ancylostomiasis 10.3 CP TF
21 iron metabolism disease 10.3 CP HFE TF
22 cryptogenic cirrhosis 10.3 F2 HFE
23 atransferrinemia 10.3 CP HFE TF
24 epstein-barr virus hepatitis 10.3 F2 TF
25 inherited metabolic disorder 10.2 ATP7B HFE TF
26 infantile liver failure syndrome 1 10.2
27 orbital cyst 10.1 F2 TF
28 hair disease 10.1
29 hepatoportal sclerosis 10.0 F2 GPT
30 lung cancer 10.0
31 hepatocellular carcinoma 10.0
32 type i 9.9
33 cerebritis 9.9
34 meningitis and encephalitis 9.9 ALB CAT CP
35 sarcoma 9.9
36 adenocarcinoma 9.9
37 pancreatitis 9.9
38 antipyrine metabolism 9.8 ALB F2
39 non-a-e hepatitis 9.8 ALB F2
40 squamous cell carcinoma, head and neck 9.8
41 melioidosis 9.8
42 colorectal adenoma 9.8
43 renal oncocytoma 9.8
44 tongue squamous cell carcinoma 9.8
45 polycystic kidney disease 9.8
46 hepatosplenic t-cell lymphoma 9.8
47 hepatitis d 9.8 F2 GPT
48 retinoblastoma 9.8
49 hemolytic anemia 9.8
50 neuropathy 9.8

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 62)
# 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 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
16 cirrhosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001394
17 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
18 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
19 abnormality of the menstrual cycle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000140
20 aggressive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000718
21 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
22 abnormality of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001155
23 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
24 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
25 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
26 back pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0003418
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 proximal muscle weakness in lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0008994
30 hypersexuality 59 32 hallmark (90%) Very frequent (99-80%) HP:0030214
31 kayser-fleischer ring 59 32 hallmark (90%) Very frequent (99-80%) HP:0200032
32 acute hepatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200119
33 osteoarthritis 32 HP:0002758
34 tremor 32 HP:0001337
35 dysphagia 32 HP:0002015
36 proteinuria 32 HP:0000093
37 renal tubular dysfunction 32 HP:0000124
38 aminoaciduria 32 HP:0003355
39 osteoporosis 32 HP:0000939
40 hepatitis 59 Very frequent (99-80%)
41 hemolytic anemia 32 HP:0001878
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:


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

MGI Mouse Phenotypes related to Wilson Disease:

46
# 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 10.09 DRD2 F2 HFE LOX SLC31A1 ATOX1
3 cardiovascular system MP:0005385 10.01 ATOX1 ATP7A COMMD1 CP DRD2 F2
4 mortality/aging MP:0010768 9.93 ALB ATOX1 ATP7A ATP7B CAT COMMD1
5 liver/biliary system MP:0005370 9.91 ALB ATOX1 ATP7A ATP7B COMMD1 CP
6 integument MP:0010771 9.87 ATOX1 ATP7A ATP7B DRD2 F2 LOX
7 nervous system MP:0003631 9.61 ATP7A ATP7B COMMD1 CP DRD2 F2
8 pigmentation MP:0001186 9.1 ATP7A ATP7B CP DRD2 SLC31A1 ATOX1

Drugs & Therapeutics for Wilson Disease

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 3 7440-66-6 23994
2
Penicillamine Approved Phase 4,Phase 3 52-67-5 5852 4727
3 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Trientine Phase 4,Phase 3,Phase 1,Not Applicable
5 Antidotes Phase 4
6 Antirheumatic Agents Phase 4
7 Protective Agents Phase 4
8
Molybdenum Approved Phase 3,Phase 2 7439-98-7 185498
9 Angiogenesis Inhibitors Phase 3,Phase 2
10 Angiogenesis Modulating Agents Phase 3,Phase 2
11 Micronutrients Phase 3,Phase 2,Phase 1
12 Tetrathiomolybdate Phase 3,Phase 2
13 Trace Elements Phase 3,Phase 2,Phase 1
14
Copper Approved, Investigational Phase 1 7440-50-8 27099
15
Disulfiram Approved Phase 1 97-77-8 3117
16
Ethanol Approved Phase 1 64-17-5 702
17 Liver Extracts Phase 1,Not Applicable
18
Pancrelipase Approved, Investigational 53608-75-6
19
Iron Approved 7439-89-6 23925
20 Alpha 1-Antitrypsin
21 pancreatin
22 Protein C Inhibitor
23 Hematinics Not Applicable
24
Bilirubin 635-65-4 5280352
25 alanine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 29)
# 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 A Study of Tetrathiomolybdate in the Treatment of Psoriasis Vulgaris Completed NCT00113542 Phase 2 Tetrathiomolybdate (TM)
9 Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients Active, not recruiting NCT02273596 Phase 2 WTX101
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 Evaluation of Patients With Liver Disease Recruiting NCT00001971
27 ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders Recruiting NCT02252380 Not Applicable
28 The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment Active, not recruiting NCT02763215
29 Study of Copper Isotope in Head and Neck Cancer Not yet recruiting NCT02864836

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 Potential therapeutic candidate, affected by disease

Publications for Wilson Disease

Articles related to Wilson Disease:

(show top 50) (show all 732)
# 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
Reversible pancytopenia caused by severe copper deficiency in a patient with Wilson disease. ( 29954304 )
2018
33
Other organ involvement and clinical aspects of Wilson disease. ( 28433099 )
2017
34
Pathogenesis of Wilson disease. ( 28433109 )
2017
35
Wilson disease in children. ( 28433098 )
2017
36
Wilson Disease ( 28723019 )
2017
37
Evaluation of Kayser-Fleischer ring in Wilson disease by anterior segment optical coherence tomography. ( 28573989 )
2017
38
Patient support groups in the management of Wilson disease. ( 28433107 )
2017
39
Unusual osseous presentation of Wilson disease in a child. ( 29153911 )
2017
40
Advantages of Anterior Segment Optical Coherence Tomography Evaluation of the Kayser-Fleischer Ring in Wilson Disease. ( 28060027 )
2017
41
HUMAN COPPER TRANSPORTER ATP7B (WILSON DISEASE PROTEIN) FORMS STABLE DIMERS IN VITRO AND IN CELLS. ( 28842499 )
2017
42
Early Onset of Wilson Disease - Diagnostic Challenges. ( 28753182 )
2017
43
Wilson Disease: Diagnosis, Treatment, and Follow-up. ( 28987261 )
2017
44
Wilson disease - currently used anticopper therapy. ( 28433101 )
2017
45
The genetics of Wilson disease. ( 28433102 )
2017
46
Probing functional roles of Wilson disease protein (ATP7B) copper-binding domains in yeast. ( 28653724 )
2017
47
Genetic and environmental modifiers of Wilson disease. ( 28433108 )
2017
48
Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report. ( 29381936 )
2017
49
Epidemiology and introduction to the clinical presentation of Wilson disease. ( 28433111 )
2017
50
Zinc monotherapy for young children with presymptomatic Wilson disease: a multicenter study in Japan. ( 28452067 )
2017

Variations for Wilson Disease

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

75 (show top 50) (show all 194)
# Symbol AA change Variation ID SNP ID
1 ATP7B p.Gly85Val VAR_000703 rs786204643
2 ATP7B p.Leu492Ser VAR_000710
3 ATP7B p.Gly626Ala VAR_000712 rs587783299
4 ATP7B p.Asp642His VAR_000713 rs72552285
5 ATP7B p.Gly691Arg VAR_000716 rs121908001
6 ATP7B p.Leu708Pro VAR_000717 rs121908000
7 ATP7B p.Gly710Arg VAR_000718
8 ATP7B p.Gly710Ser VAR_000719 rs137853285
9 ATP7B p.Gly711Glu VAR_000720
10 ATP7B p.Tyr713Cys VAR_000721 rs756883878
11 ATP7B p.Ile747Phe VAR_000723
12 ATP7B p.Asp765Asn VAR_000724 rs28942075
13 ATP7B p.Met769Val VAR_000725 rs193922103
14 ATP7B p.Arg778Gly VAR_000727 rs137853284
15 ATP7B p.Arg778Leu VAR_000728 rs28942074
16 ATP7B p.Arg778Gln VAR_000729 rs28942074
17 ATP7B p.Arg778Trp VAR_000730 rs137853284
18 ATP7B p.Pro840Leu VAR_000733 rs768671894
19 ATP7B p.Ile857Thr VAR_000734
20 ATP7B p.Gly869Arg VAR_000736 rs191312027
21 ATP7B p.Ala874Val VAR_000737 rs121907994
22 ATP7B p.Asp918Asn VAR_000738 rs540935874
23 ATP7B p.Arg919Gly VAR_000739 rs121907993
24 ATP7B p.Arg919Trp VAR_000740 rs121907993
25 ATP7B p.Ser921Asn VAR_000741
26 ATP7B p.Thr935Met VAR_000743 rs750019452
27 ATP7B p.Gly943Asp VAR_000744 rs779323689
28 ATP7B p.Gly943Ser VAR_000745 rs28942076
29 ATP7B p.Arg969Gln VAR_000747 rs121907996
30 ATP7B p.Thr977Met VAR_000748 rs72552255
31 ATP7B p.Pro992Leu VAR_000749 rs201038679
32 ATP7B p.Ala1003Thr VAR_000751 rs201497300
33 ATP7B p.Ala1018Val VAR_000752 rs371840514
34 ATP7B p.Gly1035Val VAR_000753 rs753594031
35 ATP7B p.Leu1043Pro VAR_000755
36 ATP7B p.Glu1064Ala VAR_000756 rs374094065
37 ATP7B p.Glu1064Lys VAR_000757 rs376910645
38 ATP7B p.His1069Gln VAR_000758 rs76151636
39 ATP7B p.Leu1083Phe VAR_000759
40 ATP7B p.Gly1089Glu VAR_000760
41 ATP7B p.Gly1089Val VAR_000761
42 ATP7B p.Gly1101Arg VAR_000762 rs786204483
43 ATP7B p.Ile1102Thr VAR_000763 rs560952220
44 ATP7B p.Gln1142His VAR_000766 rs778749563
45 ATP7B p.Val1146Met VAR_000767
46 ATP7B p.Ile1148Thr VAR_000768 rs60431989
47 ATP7B p.Trp1153Cys VAR_000769
48 ATP7B p.Met1169Val VAR_000770 rs749085322
49 ATP7B p.Ala1183Gly VAR_000771 rs587783315
50 ATP7B p.Gly1186Cys VAR_000773

ClinVar genetic disease variations for Wilson Disease:

6
(show top 50) (show all 490)
# 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.2333G> T (p.Arg778Leu) single nucleotide variant Pathogenic rs28942074 GRCh37 Chromosome 13, 52532469: 52532469
11 ATP7B NM_000053.3(ATP7B): c.2333G> T (p.Arg778Leu) single nucleotide variant Pathogenic rs28942074 GRCh38 Chromosome 13, 51958333: 51958333
12 ATP7B ATP7B, 15-BP DEL, NT-441 deletion Pathogenic
13 ATP7B ATP7B, 3-BP DEL, 3892GTC deletion Pathogenic
14 ATP7B NM_000053.3(ATP7B): c.2293G> A (p.Asp765Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942075 GRCh37 Chromosome 13, 52532509: 52532509
15 ATP7B NM_000053.3(ATP7B): c.2293G> A (p.Asp765Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942075 GRCh38 Chromosome 13, 51958373: 51958373
16 ATP7B NM_000053.3(ATP7B): c.2827G> A (p.Gly943Ser) single nucleotide variant Pathogenic rs28942076 GRCh37 Chromosome 13, 52523836: 52523836
17 ATP7B NM_000053.3(ATP7B): c.2827G> A (p.Gly943Ser) single nucleotide variant Pathogenic rs28942076 GRCh38 Chromosome 13, 51949700: 51949700
18 ATP7B NM_000053.3(ATP7B): c.2755C> G (p.Arg919Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121907993 GRCh37 Chromosome 13, 52523908: 52523908
19 ATP7B NM_000053.3(ATP7B): c.2755C> G (p.Arg919Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121907993 GRCh38 Chromosome 13, 51949772: 51949772
20 ATP7B ATP7B, 1-BP DEL, 2511A deletion Pathogenic
21 ATP7B NM_000053.3(ATP7B): c.3809A> G (p.Asn1270Ser) single nucleotide variant Pathogenic rs121907990 GRCh37 Chromosome 13, 52511706: 52511706
22 ATP7B NM_000053.3(ATP7B): c.3809A> G (p.Asn1270Ser) single nucleotide variant Pathogenic rs121907990 GRCh38 Chromosome 13, 51937570: 51937570
23 ATP7B NM_000053.3(ATP7B): c.2906G> A (p.Arg969Gln) single nucleotide variant Pathogenic rs121907996 GRCh37 Chromosome 13, 52520574: 52520574
24 ATP7B NM_000053.3(ATP7B): c.2906G> A (p.Arg969Gln) single nucleotide variant Pathogenic rs121907996 GRCh38 Chromosome 13, 51946438: 51946438
25 ATP7B NM_000053.3(ATP7B): c.2297C> G (p.Thr766Arg) single nucleotide variant Pathogenic rs121907997 GRCh37 Chromosome 13, 52532505: 52532505
26 ATP7B NM_000053.3(ATP7B): c.2297C> G (p.Thr766Arg) single nucleotide variant Pathogenic rs121907997 GRCh38 Chromosome 13, 51958369: 51958369
27 ATP7B NM_000053.3(ATP7B): c.1934T> G (p.Met645Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121907998 GRCh37 Chromosome 13, 52535985: 52535985
28 ATP7B NM_000053.3(ATP7B): c.1934T> G (p.Met645Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121907998 GRCh38 Chromosome 13, 51961849: 51961849
29 ATP7B NM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr) single nucleotide variant Pathogenic/Likely pathogenic rs60431989 GRCh37 Chromosome 13, 52515330: 52515330
30 ATP7B NM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr) single nucleotide variant Pathogenic/Likely pathogenic rs60431989 GRCh38 Chromosome 13, 51941194: 51941194
31 ATP7B NM_000053.3(ATP7B): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121907999 GRCh37 Chromosome 13, 52548491: 52548491
32 ATP7B NM_000053.3(ATP7B): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121907999 GRCh38 Chromosome 13, 51974355: 51974355
33 ATP7B NM_000053.3(ATP7B): c.2123T> C (p.Leu708Pro) single nucleotide variant Pathogenic rs121908000 GRCh37 Chromosome 13, 52532679: 52532679
34 ATP7B NM_000053.3(ATP7B): c.2123T> C (p.Leu708Pro) single nucleotide variant Pathogenic rs121908000 GRCh38 Chromosome 13, 51958543: 51958543
35 ATP7B NM_000053.3(ATP7B): c.2071G> A (p.Gly691Arg) single nucleotide variant Likely pathogenic rs121908001 GRCh37 Chromosome 13, 52534334: 52534334
36 ATP7B NM_000053.3(ATP7B): c.2071G> A (p.Gly691Arg) single nucleotide variant Likely pathogenic rs121908001 GRCh38 Chromosome 13, 51960198: 51960198
37 ATP7B NM_000053.3(ATP7B): c.2122-8T> G single nucleotide variant Pathogenic/Likely pathogenic rs193922102 GRCh37 Chromosome 13, 52532688: 52532688
38 ATP7B NM_000053.3(ATP7B): c.2122-8T> G single nucleotide variant Pathogenic/Likely pathogenic rs193922102 GRCh38 Chromosome 13, 51958552: 51958552
39 ATP7B NM_000053.3(ATP7B): c.2930C> T (p.Thr977Met) single nucleotide variant Pathogenic rs72552255 GRCh37 Chromosome 13, 52520550: 52520550
40 ATP7B NM_000053.3(ATP7B): c.2930C> T (p.Thr977Met) single nucleotide variant Pathogenic rs72552255 GRCh38 Chromosome 13, 51946414: 51946414
41 ATP7B NM_000053.3(ATP7B): c.2953T> C (p.Cys985Arg) single nucleotide variant Likely pathogenic rs193922104 GRCh37 Chromosome 13, 52520527: 52520527
42 ATP7B NM_000053.3(ATP7B): c.2953T> C (p.Cys985Arg) single nucleotide variant Likely pathogenic rs193922104 GRCh38 Chromosome 13, 51946391: 51946391
43 ATP7B NM_000053.3(ATP7B): c.3659C> T (p.Thr1220Met) single nucleotide variant Pathogenic/Likely pathogenic rs193922107 GRCh37 Chromosome 13, 52513227: 52513227
44 ATP7B NM_000053.3(ATP7B): c.3659C> T (p.Thr1220Met) single nucleotide variant Pathogenic/Likely pathogenic rs193922107 GRCh38 Chromosome 13, 51939091: 51939091
45 ATP7B NM_000053.3(ATP7B): c.3955C> T (p.Arg1319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922109 GRCh37 Chromosome 13, 52511478: 52511478
46 ATP7B NM_000053.3(ATP7B): c.3955C> T (p.Arg1319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922109 GRCh38 Chromosome 13, 51937342: 51937342
47 ATP7B NM_000053.3(ATP7B): c.4058G> A (p.Trp1353Ter) single nucleotide variant Likely pathogenic rs193922110 GRCh37 Chromosome 13, 52509795: 52509795
48 ATP7B NM_000053.3(ATP7B): c.4058G> A (p.Trp1353Ter) single nucleotide variant Likely pathogenic rs193922110 GRCh38 Chromosome 13, 51935659: 51935659
49 ATP7B NM_000053.3(ATP7B): c.845delT (p.Leu282Profs) deletion Pathogenic rs193922111 GRCh37 Chromosome 13, 52548511: 52548511
50 ATP7B NM_000053.3(ATP7B): c.845delT (p.Leu282Profs) deletion Pathogenic rs193922111 GRCh38 Chromosome 13, 51974375: 51974375

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 9.92 ALB CAT CP F2 GPT HFE
2 cytoplasmic vesicle GO:0031410 9.73 ATP7B COMMD1 DRD2 ESD HFE TF
3 blood microparticle GO:0072562 9.67 ALB CP F2 TF
4 late endosome GO:0005770 9.46 ATP7A ATP7B SLC31A1 TF
5 basal part of cell GO:0045178 9.43 HFE TF
6 HFE-transferrin receptor complex GO:1990712 9.4 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
9 extracellular exosome GO:0070062 10.06 ALB CAT COMMD1 CP ESD F2

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

(show all 20)
# 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 9.87 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 9.59 HFE TF
7 response to lead ion GO:0010288 9.58 ATP7A CAT
8 response to iron ion GO:0010039 9.58 DRD2 HFE
9 response to copper ion GO:0046688 9.56 ATP7A ATP7B
10 dopamine metabolic process GO:0042417 9.55 ATP7A DRD2
11 elastic fiber assembly GO:0048251 9.54 ATP7A LOX
12 copper ion import GO:0015677 9.5 ATP7A ATP7B SLC31A1
13 regulation of iron ion import GO:1900390 9.49 HFE TF
14 response to inactivity GO:0014854 9.48 CAT DRD2
15 intracellular copper ion transport GO:0015680 9.46 ATOX1 ATP7B
16 cellular response to iron ion GO:0071281 9.43 ATP7A HFE TF
17 copper ion export GO:0060003 9.4 ATP7A ATP7B
18 copper ion transmembrane transport GO:0035434 9.33 ATOX1 ATP7B SLC31A1
19 cellular copper ion homeostasis GO:0006878 9.26 ATOX1 ATP7A ATP7B SLC31A1
20 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 signaling receptor binding GO:0005102 9.78 CAT DRD2 F2 HFE
2 chaperone binding GO:0051087 9.58 ALB ATP7A CP
3 antioxidant activity GO:0016209 9.46 ALB CAT
4 cation-transporting ATPase activity GO:0019829 9.43 ATP7A ATP7B
5 transferrin receptor binding GO:1990459 9.37 HFE TF
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 transmembrane transporter activity GO:0005375 9.26 ATOX1 ATP7A ATP7B SLC31A1
9 copper ion binding GO:0005507 9.17 ALB ATOX1 ATP7A ATP7B COMMD1 CP
10 copper-transporting ATPase activity GO:0043682 9.16 ATP7A ATP7B
11 metal ion binding GO:0046872 10.15 ALB ATOX1 ATP7A ATP7B CAT COMMD1

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
Content
Loading form....