MCID: WLS001
MIFTS: 72

Wilson Disease

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

Aliases & Classifications for Wilson Disease

MalaCards integrated aliases for Wilson Disease:

Name: Wilson Disease 53 37 12 72 23 49 24 50 55 71 36 28 13 51 40 14
Hepatolenticular Degeneration 53 12 23 49 55 71 41 69
Wd 53 49 24 71
Wilson's Disease 12 72 24
Wnd 53 49
Hepatolenticular Degeneration Syndrome 24
Westphal-Strumpell Syndrome 12
Cerebral Pseudosclerosis 12
Westphal Pseudosclerosis 12
Copper Storage Disease 24
Wnd; Wd 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
wilson disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wilson Disease

NINDS : 50 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 pruritus, arthralgia and back pain. 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 homeostasis/metabolism and behavior/neurological

Genetics Home Reference : 24 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 : 49 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. Last updated: 2/5/2015

OMIM : 53 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 : 40 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 : 71 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.

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 155)
# Related Disease Score Top Affiliating Genes
1 liver disease 29.9 ALB CP F2 GPT HFE TF
2 menkes disease 29.6 ATOX1 ATP7A ATP7B COMMD1 CP LOX
3 hemochromatosis, type 1 29.4 ATP7B CP HFE TF
4 acute liver failure 29.4 ALB F2 GPT
5 hemosiderosis 29.0 CP GPT HFE TF
6 liver cirrhosis 27.7 ALB F2 GPT HFE TF
7 suprabulbar paresis, congenital 11.1
8 warty dyskeratoma 11.1
9 lysosomal acid lipase deficiency 10.9
10 dystonia 11, myoclonic 10.8
11 swayback 10.4 CP HFE
12 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.4 ATP7A ATP7B
13 occipital horn syndrome 10.3 ATP7A LOX
14 iron overload in africa 10.3 HFE TF
15 hepatitis 10.3
16 hyperferritinemia with or without cataract 10.3 HFE TF
17 hypochromic microcytic anemia 10.3 CP TF
18 amelanotic melanoma 10.2 CAT DRD2
19 infantile liver failure syndrome 1 10.2
20 iron metabolism disease 10.2 CP HFE TF
21 atransferrinemia 10.2 CP HFE TF
22 cryptogenic cirrhosis 10.2 F2 HFE
23 epstein-barr virus hepatitis 10.2 F2 TF
24 inherited metabolic disorder 10.1 ATP7B HFE TF
25 hair disease 10.1
26 aminoaciduria 10.1
27 ancylostomiasis 10.1 CP TF
28 orbital cyst 10.1 F2 TF
29 hepatoportal sclerosis 10.0 F2 GPT
30 lung cancer 10.0
31 hepatocellular carcinoma 10.0
32 meningitis and encephalitis 9.9 ALB CAT CP
33 antipyrine metabolism 9.9 ALB F2
34 non-a-e hepatitis 9.9 ALB F2
35 sarcoma 9.9
36 fibrosis of extraocular muscles, congenital, 1 9.9
37 marasmus 9.9 ALB TF
38 metal metabolism disorder 9.8 ATP7A ATP7B CP HFE TF
39 nonalcoholic steatohepatitis 9.8 F2 GPT HFE
40 fournier gangrene 9.8 ALB F2
41 yellow nail syndrome 9.8 ALB TF
42 colorectal cancer 9.8
43 squamous cell carcinoma, head and neck 9.8
44 melioidosis 9.8
45 colorectal adenoma 9.8
46 renal oncocytoma 9.8
47 tongue squamous cell carcinoma 9.8
48 polycystic kidney disease 9.8
49 hepatosplenic t-cell lymphoma 9.8
50 retinoblastoma 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:

53
NeurologicCentralNervousSystem:
tremor
dystonia
personality changes
dysarthria
dysphagia
more
AbdomenLiver:
hepatomegaly
hepatic cirrhosis
liver failure
atypical or prolonged hepatitis
hepatic coma
more
GenitourinaryKidneys:
renal tubular dysfunction
renal calculi

Hematology:
hemolytic anemia

HeadAndNeckEyes:
kayser-fleischer ring

NeurologicPeripheralNervousSystem:
mixed demyelinating and axonal polyneuropathy (rare)

SkeletalLimbs:
osteoarthritis
joint hypermobility

LaboratoryAbnormalities:
proteinuria
aminoaciduria
hypercalciuria
glycosuria
high nonceruloplasmin-bound serum copper
more
Skeletal:
osteoporosis
osteomalacia
chondrocalcinosis

EndocrineFeatures:
hypoparathyroidism

AbdomenGastrointestinal:
esophageal varices


Clinical features from OMIM:

277900

Human phenotypes related to Wilson Disease:

55 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000989
2 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 back pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0003418
4 joint swelling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001386
5 clumsiness 55 31 hallmark (90%) Very frequent (99-80%) HP:0002312
6 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
7 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
8 dysarthria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001260
9 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
10 arthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001369
11 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
12 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
13 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
14 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
15 pathologic fracture 55 31 hallmark (90%) Very frequent (99-80%) HP:0002756
16 hepatic steatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001397
17 elevated hepatic transaminases 55 31 hallmark (90%) Very frequent (99-80%) HP:0002910
18 cirrhosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001394
19 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
20 jaundice 55 31 hallmark (90%) Very frequent (99-80%) HP:0000952
21 abnormality of the menstrual cycle 55 31 hallmark (90%) Very frequent (99-80%) HP:0000140
22 aggressive behavior 55 31 hallmark (90%) Very frequent (99-80%) HP:0000718
23 bruising susceptibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000978
24 abnormality of the hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0001155
25 difficulty walking 55 31 hallmark (90%) Very frequent (99-80%) HP:0002355
26 increased body weight 55 31 hallmark (90%) Very frequent (99-80%) HP:0004324
27 acute hepatic failure 55 31 hallmark (90%) Very frequent (99-80%) HP:0006554
28 proximal muscle weakness in lower limbs 55 31 hallmark (90%) Very frequent (99-80%) HP:0008994
29 hypersexuality 55 31 hallmark (90%) Very frequent (99-80%) HP:0030214
30 kayser-fleischer ring 55 31 hallmark (90%) Very frequent (99-80%) HP:0200032
31 acute hepatitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0200119
32 tremor 31 HP:0001337
33 dystonia 31 HP:0001332
34 personality changes 31 HP:0000751
35 osteoarthritis 31 HP:0002758
36 depression 55 Very frequent (99-80%)
37 dysphagia 31 HP:0002015
38 proteinuria 31 HP:0000093
39 renal tubular dysfunction 31 HP:0000124
40 aminoaciduria 31 HP:0003355
41 osteoporosis 31 HP:0000939
42 hepatitis 55 Very frequent (99-80%)
43 hemolytic anemia 31 HP:0001878
44 hypoparathyroidism 31 HP:0000829
45 hypercalciuria 31 HP:0002150
46 joint hypermobility 31 HP:0001382
47 dementia 31 HP:0000726
48 coma 31 HP:0001259
49 nephrolithiasis 31 HP:0000787
50 osteomalacia 31 HP:0002749

UMLS symptoms related to Wilson Disease:


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

MGI Mouse Phenotypes related to Wilson Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 SLC31A1 TF ALB ATOX1 ATP7A ATP7B
2 behavior/neurological MP:0005386 10.09 ATP7A ATP7B CP DRD2 F2 HFE
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 ATOX1 ATP7A ATP7B COMMD1 CP DRD2
8 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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 3 7440-66-6 32051 23994
2
Penicillamine Approved Phase 4,Phase 3 52-67-5 4727 5852
3 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Trientine Phase 4,Phase 3,Phase 1
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
18
Iron Approved 7439-89-6 23925
19
Pancrelipase Approved, Investigational 53608-75-6
20 Hematinics
21
Bilirubin 635-65-4 5280352
22 Alpha 1-Antitrypsin
23 pancreatin
24 Protein C Inhibitor
25 alanine Nutraceutical

Interventional clinical trials:

(show all 27)

# 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 A Study of Tetrathiomolybdate in the Treatment of Psoriasis Vulgaris Completed NCT00113542 Phase 2 Tetrathiomolybdate (TM)
8 Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients Active, not recruiting NCT02273596 Phase 2 WTX101
9 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
10 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
11 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1 Vemurafenib and Trientine
12 Inhibitory rTMS in Dystonic Wilson Patients Unknown status NCT01980433
13 Measurement of Fibrinogen in Patients With Systemic Inflammatory Response Syndrome (SIRS), Sepsis or Chronicle Liver Disease on Intensive Care Units (ICU) Unknown status NCT01169168
14 Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease Completed NCT01472874 Once a day Trientine
15 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
16 Natural History of Wilson Disease Recruiting NCT03334292
17 sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis Recruiting NCT02702765 Galactose
18 WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation) Recruiting NCT02552628
19 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
20 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Recruiting NCT02851550
21 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Recruiting NCT02852304
22 Evaluation of Patients With Liver Disease Recruiting NCT00001971
23 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
24 ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders Recruiting NCT02252380
25 The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment Active, not recruiting NCT02763215
26 A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease Patients Not yet recruiting NCT03299829 Trientine
27 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 69 / NDF-RT 47 :


Cochrane evidence based reviews: hepatolenticular degeneration

Genetic Tests for Wilson Disease

Genetic tests related to Wilson Disease:

# Genetic test Affiliating Genes
1 Wilson Disease 28 ATP7B

Anatomical Context for Wilson Disease

MalaCards organs/tissues related to Wilson Disease:

38
Liver, Brain, Eye, Testes, Kidney, Bone, Fetal Liver
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 698)
# Title Authors Year
1
Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators. ( 29173477 )
2018
2
The steady state pharmacokinetics of trientine in Wilson disease patients. ( 29417175 )
2018
3
Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System. ( 29358698 )
2018
4
The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation. ( 29330485 )
2018
5
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
6
Wilson disease: more than meets the eye. ( 29449431 )
2018
7
Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation. ( 29356957 )
2018
8
Wilson disease and related copper disorders. ( 29325617 )
2018
9
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease. ( 29059476 )
2018
10
Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease. ( 29354285 )
2018
11
Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. ( 29418065 )
2018
12
Anterior Segment Parameters in Patients With Wilson Disease. ( 29303886 )
2018
13
Other organ involvement and clinical aspects of Wilson disease. ( 28433099 )
2017
14
Novel perspectives on Wilson disease treatment. ( 28433106 )
2017
15
Wilson disease: symptomatic liver therapy. ( 28433104 )
2017
16
HUMAN COPPER TRANSPORTER ATP7B (WILSON DISEASE PROTEIN) FORMS STABLE DIMERS IN VITRO AND IN CELLS. ( 28842499 )
2017
17
Diagnosis of Wilson disease. ( 28433100 )
2017
18
Liver transplantation for Wilson disease. ( 28433103 )
2017
19
Hepatic features of Wilson disease. ( 28433114 )
2017
20
Symptomatic treatment of neurologic symptoms in Wilson disease. ( 28433105 )
2017
21
Wilson disease: brain pathology. ( 28433113 )
2017
22
Modality of treatment and potential outcome of Wilson disease in Taiwan: A population-based longitudinal study. ( 28578978 )
2017
23
Wilson disease in children. ( 28433098 )
2017
24
Dystonic Dysarthria in Wilson Disease: Efficacy of Zolpidem. ( 29163329 )
2017
25
Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease. ( 28719006 )
2017
26
Comment on Advantages of Anterior Segment Optical Coherence Tomography Evaluation of the Kayser-Fleischer Ring in Wilson Disease. ( 28679132 )
2017
27
Wilson Disease: Diagnosis, Treatment, and Follow-up. ( 28987261 )
2017
28
Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence. ( 29270329 )
2017
29
Pathogenesis of Wilson disease. ( 28433109 )
2017
30
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
31
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. ( 29321352 )
2017
32
Probing functional roles of Wilson disease protein (ATP7B) copper-binding domains in yeast. ( 28653724 )
2017
33
Hepatocellular Carcinoma: An Unusual Complication of Longstanding Wilson Disease. ( 28663680 )
2017
34
Pregnancy in Wilson disease. ( 29077220 )
2017
35
Childhood Wilson Disease: Bangladesh Perspective. ( 28588179 )
2017
36
Was Cavum Septum Pellucidum the Cause of Intractable Seizure in a 17-Year-Old Boy with Wilson Disease? ( 28619500 )
2017
37
Wilson disease - currently used anticopper therapy. ( 28433101 )
2017
38
Epidemiology and introduction to the clinical presentation of Wilson disease. ( 28433111 )
2017
39
Evaluation of Kayser-Fleischer ring in Wilson disease by anterior segment optical coherence tomography. ( 28573989 )
2017
40
Wilson Disease ( 28723019 )
2017
41
A 6-year-old boy with Wilson disease-A diagnostic dilemma. ( 28435998 )
2017
42
Genetic and environmental modifiers of Wilson disease. ( 28433108 )
2017
43
Pontomesencephalic Atrophy and Postural Instability in Wilson Disease. ( 28495941 )
2017
44
Animal models of Wilson disease. ( 28433110 )
2017
45
Early Onset of Wilson Disease - Diagnostic Challenges. ( 28753182 )
2017
46
Advantages of Anterior Segment Optical Coherence Tomography Evaluation of the Kayser-Fleischer Ring in Wilson Disease. ( 28060027 )
2017
47
Wilson disease - liver pathology. ( 28433112 )
2017
48
The genetics of Wilson disease. ( 28433102 )
2017
49
Unusual osseous presentation of Wilson disease in a child. ( 29153911 )
2017
50
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease. ( 28717664 )
2017

Variations for Wilson Disease

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

71 (show top 50) (show all 195)
# 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.Met645Arg VAR_000714 rs121907998
6 ATP7B p.Gly691Arg VAR_000716 rs121908001
7 ATP7B p.Leu708Pro VAR_000717 rs121908000
8 ATP7B p.Gly710Arg VAR_000718
9 ATP7B p.Gly710Ser VAR_000719 rs137853285
10 ATP7B p.Gly711Glu VAR_000720
11 ATP7B p.Tyr713Cys VAR_000721 rs756883878
12 ATP7B p.Ile747Phe VAR_000723
13 ATP7B p.Asp765Asn VAR_000724 rs28942075
14 ATP7B p.Met769Val VAR_000725 rs193922103
15 ATP7B p.Arg778Gly VAR_000727 rs137853284
16 ATP7B p.Arg778Leu VAR_000728 rs28942074
17 ATP7B p.Arg778Gln VAR_000729 rs28942074
18 ATP7B p.Arg778Trp VAR_000730 rs137853284
19 ATP7B p.Pro840Leu VAR_000733 rs768671894
20 ATP7B p.Ile857Thr VAR_000734
21 ATP7B p.Gly869Arg VAR_000736 rs191312027
22 ATP7B p.Ala874Val VAR_000737 rs121907994
23 ATP7B p.Asp918Asn VAR_000738 rs540935874
24 ATP7B p.Arg919Gly VAR_000739 rs121907993
25 ATP7B p.Arg919Trp VAR_000740 rs121907993
26 ATP7B p.Ser921Asn VAR_000741
27 ATP7B p.Thr935Met VAR_000743 rs750019452
28 ATP7B p.Gly943Asp VAR_000744 rs779323689
29 ATP7B p.Gly943Ser VAR_000745 rs28942076
30 ATP7B p.Arg969Gln VAR_000747 rs121907996
31 ATP7B p.Thr977Met VAR_000748 rs72552255
32 ATP7B p.Pro992Leu VAR_000749 rs201038679
33 ATP7B p.Ala1003Thr VAR_000751 rs201497300
34 ATP7B p.Ala1018Val VAR_000752 rs371840514
35 ATP7B p.Gly1035Val VAR_000753 rs753594031
36 ATP7B p.Leu1043Pro VAR_000755
37 ATP7B p.Glu1064Ala VAR_000756 rs374094065
38 ATP7B p.Glu1064Lys VAR_000757 rs376910645
39 ATP7B p.His1069Gln VAR_000758 rs76151636
40 ATP7B p.Leu1083Phe VAR_000759
41 ATP7B p.Gly1089Glu VAR_000760
42 ATP7B p.Gly1089Val VAR_000761
43 ATP7B p.Gly1101Arg VAR_000762 rs786204483
44 ATP7B p.Ile1102Thr VAR_000763 rs560952220
45 ATP7B p.Gln1142His VAR_000766 rs778749563
46 ATP7B p.Val1146Met VAR_000767
47 ATP7B p.Ile1148Thr VAR_000768 rs60431989
48 ATP7B p.Trp1153Cys VAR_000769
49 ATP7B p.Met1169Val VAR_000770 rs749085322
50 ATP7B p.Ala1183Gly VAR_000771 rs587783315

ClinVar genetic disease variations for Wilson Disease:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP7B NM_000053.3(ATP7B): c.2122-8T> G single nucleotide variant Pathogenic/Likely pathogenic rs193922102 GRCh37 Chromosome 13, 52532688: 52532688
2 ATP7B NM_000053.3(ATP7B): c.2930C> T (p.Thr977Met) single nucleotide variant Pathogenic rs72552255 GRCh37 Chromosome 13, 52520550: 52520550
3 ATP7B NM_000053.3(ATP7B): c.2953T> C (p.Cys985Arg) single nucleotide variant Likely pathogenic rs193922104 GRCh37 Chromosome 13, 52520527: 52520527
4 ATP7B NM_000053.3(ATP7B): c.3659C> T (p.Thr1220Met) single nucleotide variant Pathogenic/Likely pathogenic rs193922107 GRCh37 Chromosome 13, 52513227: 52513227
5 ATP7B NM_000053.3(ATP7B): c.3700G> T (p.Val1234Phe) single nucleotide variant Likely pathogenic rs193922108 GRCh37 Chromosome 13, 52511815: 52511815
6 ATP7B NM_000053.3(ATP7B): c.3955C> T (p.Arg1319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922109 GRCh37 Chromosome 13, 52511478: 52511478
7 ATP7B NM_000053.3(ATP7B): c.4058G> A (p.Trp1353Ter) single nucleotide variant Likely pathogenic rs193922110 GRCh37 Chromosome 13, 52509795: 52509795
8 ATP7B NM_000053.3(ATP7B): c.845delT (p.Leu282Profs) deletion Pathogenic rs193922111 GRCh37 Chromosome 13, 52548511: 52548511
9 ATP7B NM_000053.3(ATP7B): c.3402delC (p.Ala1135Glnfs) deletion Pathogenic rs137853281 GRCh37 Chromosome 13, 52516532: 52516532
10 ATP7B NM_000053.3(ATP7B): c.915T> A (p.Cys305Ter) single nucleotide variant Pathogenic rs398123137 GRCh37 Chromosome 13, 52548441: 52548441
11 ATP7B NM_000053.3(ATP7B): c.2128G> A (p.Gly710Ser) single nucleotide variant Pathogenic rs137853285 GRCh38 Chromosome 13, 51958538: 51958538
12 ATP7B NM_000053.3(ATP7B): c.2332C> G (p.Arg778Gly) single nucleotide variant Likely pathogenic rs137853284 GRCh38 Chromosome 13, 51958334: 51958334
13 ATP7B NM_000053.3(ATP7B): c.2336G> A (p.Trp779Ter) single nucleotide variant Pathogenic rs137853283 GRCh38 Chromosome 13, 51958330: 51958330
14 ATP7B NM_000053.3(ATP7B): c.122A> G (p.Asn41Ser) single nucleotide variant Likely pathogenic rs201738967 GRCh38 Chromosome 13, 51975098: 51975098
15 ATP7B NM_000053.3(ATP7B): c.1969A> C (p.Ser657Arg) single nucleotide variant Pathogenic rs372436901 GRCh38 Chromosome 13, 51960300: 51960300
16 ATP7B NM_000053.3(ATP7B): c.2605G> A (p.Gly869Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191312027 GRCh38 Chromosome 13, 51950132: 51950132
17 ATP7B NM_000053.3(ATP7B): c.2865+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587783306 GRCh38 Chromosome 13, 51949661: 51949661
18 ATP7B NM_000053.3(ATP7B): c.3011A> C (p.Gln1004Pro) single nucleotide variant Pathogenic rs587783307 GRCh38 Chromosome 13, 51946333: 51946333
19 ATP7B NM_000053.3(ATP7B): c.4021G> A (p.Gly1341Ser) single nucleotide variant Pathogenic rs587783317 GRCh38 Chromosome 13, 51937276: 51937276
20 ATP7B NM_000053.3(ATP7B): c.4039G> A (p.Gly1347Ser) single nucleotide variant Likely pathogenic rs587783318 GRCh38 Chromosome 13, 51935678: 51935678
21 ATP7B NM_000053.3(ATP7B): c.3263T> A (p.Leu1088Ter) single nucleotide variant Likely pathogenic rs753250853 GRCh37 Chromosome 13, 52516671: 52516671
22 ATP7B NM_000053.3(ATP7B): c.4088C> T (p.Ser1363Phe) single nucleotide variant Likely pathogenic rs776848753 GRCh37 Chromosome 13, 52509765: 52509765
23 ATP7B NM_000053.3(ATP7B): c.4051C> T (p.Gln1351Ter) single nucleotide variant Likely pathogenic rs786204578 GRCh37 Chromosome 13, 52509802: 52509802
24 ATP7B NM_000053.3(ATP7B): c.3895C> T (p.Leu1299Phe) single nucleotide variant Pathogenic/Likely pathogenic rs749472361 GRCh38 Chromosome 13, 51937484: 51937484
25 ATP7B NM_000053.3(ATP7B): c.3818C> T (p.Pro1273Leu) single nucleotide variant Likely pathogenic rs758355520 GRCh38 Chromosome 13, 51937561: 51937561
26 ATP7B NM_000053.3(ATP7B): c.3649_3654delGTTCTG (p.Val1217_Leu1218del) deletion Likely pathogenic rs781266802 GRCh37 Chromosome 13, 52513232: 52513237
27 ATP7B NM_000053.3(ATP7B): c.3646G> A (p.Val1216Met) single nucleotide variant Likely pathogenic rs776280797 GRCh38 Chromosome 13, 51939104: 51939104
28 ATP7B NM_000053.3(ATP7B): c.3598C> T (p.Gln1200Ter) single nucleotide variant Likely pathogenic rs786204658 GRCh38 Chromosome 13, 51939152: 51939152
29 ATP7B NM_000053.3(ATP7B): c.3556+1G> A single nucleotide variant Likely pathogenic rs184388696 GRCh37 Chromosome 13, 52515216: 52515216
30 ATP7B NM_000053.3(ATP7B): c.3556G> A (p.Gly1186Ser) single nucleotide variant Likely pathogenic rs786204547 GRCh37 Chromosome 13, 52515217: 52515217
31 ATP7B NM_000053.3(ATP7B): c.3552dupT (p.Asp1185Terfs) duplication Likely pathogenic rs748924063 GRCh37 Chromosome 13, 52515221: 52515221
32 ATP7B NM_000053.3(ATP7B): c.3517G> A (p.Glu1173Lys) single nucleotide variant Pathogenic/Likely pathogenic rs756029120 GRCh38 Chromosome 13, 51941120: 51941120
33 ATP7B NM_000053.3(ATP7B): c.3451C> T (p.Arg1151Cys) single nucleotide variant Likely pathogenic rs755554442 GRCh38 Chromosome 13, 51941186: 51941186
34 ATP7B NM_000053.3(ATP7B): c.3301G> A (p.Gly1101Arg) single nucleotide variant Likely pathogenic rs786204483 GRCh37 Chromosome 13, 52516633: 52516633
35 ATP7B NM_000053.3(ATP7B): c.3244-2A> G single nucleotide variant Likely pathogenic rs786204584 GRCh38 Chromosome 13, 51942556: 51942556
36 ATP7B NM_000053.3(ATP7B): c.3053C> T (p.Ala1018Val) single nucleotide variant Likely pathogenic rs371840514 GRCh38 Chromosome 13, 51946291: 51946291
37 ATP7B NM_000053.3(ATP7B): c.3008C> T (p.Ala1003Val) single nucleotide variant Likely pathogenic rs775055397 GRCh38 Chromosome 13, 51946336: 51946336
38 ATP7B NM_000053.3(ATP7B): c.3007G> A (p.Ala1003Thr) single nucleotide variant Pathogenic/Likely pathogenic rs201497300 GRCh37 Chromosome 13, 52520473: 52520473
39 ATP7B NM_000053.3(ATP7B): c.2975C> T (p.Pro992Leu) single nucleotide variant Pathogenic rs201038679 GRCh38 Chromosome 13, 51946369: 51946369
40 ATP7B NM_000053.3(ATP7B): c.2828G> A (p.Gly943Asp) single nucleotide variant Likely pathogenic rs779323689 GRCh38 Chromosome 13, 51949699: 51949699
41 ATP7B NM_000053.3(ATP7B): c.2804C> T (p.Thr935Met) single nucleotide variant Likely pathogenic rs750019452 GRCh38 Chromosome 13, 51949723: 51949723
42 ATP7B NM_000053.3(ATP7B): c.2731-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs367956522 GRCh38 Chromosome 13, 51949798: 51949798
43 ATP7B NM_000053.3(ATP7B): c.1782delT (p.Tyr594Terfs) deletion Likely pathogenic rs780327716 GRCh38 Chromosome 13, 51964959: 51964959
44 ATP7B NM_000053.3(ATP7B): c.2668G> A (p.Val890Met) single nucleotide variant Pathogenic/Likely pathogenic rs786204718 GRCh38 Chromosome 13, 51950069: 51950069
45 ATP7B NM_000053.3(ATP7B): c.2575+1G> C single nucleotide variant Likely pathogenic rs766149114 GRCh38 Chromosome 13, 51950271: 51950271
46 ATP7B NM_000053.3(ATP7B): c.2532delA (p.Val845Serfs) deletion Pathogenic rs755709270 GRCh38 Chromosome 13, 51950315: 51950315
47 ATP7B NM_000053.3(ATP7B): c.2519C> T (p.Pro840Leu) single nucleotide variant Pathogenic/Likely pathogenic rs768671894 GRCh38 Chromosome 13, 51950328: 51950328
48 ATP7B NM_000053.3(ATP7B): c.2513delA (p.Lys838Serfs) deletion Likely pathogenic rs777362050 GRCh38 Chromosome 13, 51950334: 51950334
49 ATP7B NM_000053.3(ATP7B): c.2383C> T (p.Leu795Phe) single nucleotide variant Likely pathogenic rs751710854 GRCh38 Chromosome 13, 51957580: 51957580
50 ATP7B NM_000053.3(ATP7B): c.2035delC (p.His679Thrfs) deletion Likely pathogenic rs786204764 GRCh37 Chromosome 13, 52534370: 52534370

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

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 9.88 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 iron ion GO:0010039 9.58 DRD2 HFE
8 response to lead ion GO:0010288 9.57 ATP7A CAT
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 response to inactivity GO:0014854 9.48 CAT DRD2
14 intracellular copper ion transport GO:0015680 9.46 ATOX1 ATP7B
15 cellular response to iron ion GO:0071281 9.43 ATP7A HFE TF
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
20 transport GO:0006810 10.1 ATOX1 ATP7A ATP7B COMMD1 CP HFE

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

# Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.73 CAT DRD2 F2 HFE
2 chaperone binding GO:0051087 9.58 ALB ATP7A CP
3 antioxidant activity GO:0016209 9.46 ALB CAT
4 transferrin receptor binding GO:1990459 9.37 HFE TF
5 cation-transporting ATPase activity GO:0019829 9.32 ATP7A ATP7B
6 copper-dependent protein binding GO:0032767 9.26 ATOX1 ATP7A
7 copper ion transmembrane transporter activity GO:0005375 9.26 ATOX1 ATP7A ATP7B SLC31A1
8 copper ion binding GO:0005507 9.17 ALB ATOX1 ATP7A ATP7B COMMD1 CP
9 copper-exporting ATPase activity GO:0004008 9.16 ATP7A ATP7B

Sources for Wilson Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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