WND
MCID: WLS001
MIFTS: 71

Wilson Disease (WND)

Categories: 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 56 12 74 24 52 25 53 58 73 36 29 13 54 6 42 15 37
Hepatolenticular Degeneration 56 12 24 52 58 73 43 71
Wilson's Disease 12 74 25 15 39
Wd 56 52 25 73
Wnd 56 52
Hepatolenticular Degeneration Syndrome 25
Westphal-Strumpell Syndrome 12
Cerebral Pseudosclerosis 12
Westphal Pseudosclerosis 12
Copper Storage Disease 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Wilson Disease

NINDS : 53 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 disorder of copper metabolism and liver 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 Folate Metabolism and Platinum drug resistance. The drugs Penicillamine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include Liver, brain and eye, and related phenotypes are intellectual disability and splenomegaly

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. Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling. Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.

NIH Rare Diseases : 52 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 : 56 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 : 42 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

KEGG : 36 Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver.

UniProtKB/Swiss-Prot : 73 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 : 74 Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are... 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 713)
# Related Disease Score Top Affiliating Genes
1 disorder of copper metabolism 32.1 ATP7B ATP7A
2 liver disease 31.9 PNPLA3 HFE GPT F2 CP ATP7B
3 acute liver failure 31.4 GPT F2 ALB
4 movement disease 31.0 DRD2 CP ATP7B
5 hemosiderosis 30.8 HFE GPT CP
6 liver cirrhosis 30.7 HFE GPT F2 CP ATP7B ALB
7 hepatic coma 30.7 GPT F2 ALB
8 hemochromatosis, type 1 30.7 SOD1 HFE GPT CP ATP7B
9 hepatic encephalopathy 30.5 GPT F2 DRD2 ALB
10 porphyria 30.5 HFE CP ALB
11 siderosis 30.5 HFE GPT CP
12 hepatitis a 30.5 GPT F2 ALB
13 cryptogenic cirrhosis 30.5 HFE F2
14 deficiency anemia 30.5 SOD1 HFE CP CAT ATP7A ALB
15 cholestasis 30.5 GPT F2 CP ALB
16 menkes disease 30.4 SOD1 SLC31A1 LOX DNAH8 CP COMMD1
17 occipital horn syndrome 30.4 LOX CP ATP7B ATP7A ATOX1
18 aceruloplasminemia 30.4 SOD1 SLC31A1 HFE CP ATP7B ATP7A
19 bilirubin metabolic disorder 30.3 GPT F2 ALB
20 iron deficiency anemia 30.3 HFE CP CAT
21 aspiration pneumonia 30.3 GPT F2 ALB
22 portal hypertension 30.3 PNPLA3 GPT F2 ALB
23 exanthem 30.3 GPT F2 ALB
24 alpha-1-antitrypsin deficiency 30.3 HFE GPT F2 ALB
25 supranuclear palsy, progressive, 1 30.2 SOD1 PRNP DRD2
26 cholangitis 30.2 GPT F2 ALB
27 esophageal varix 30.2 GPT F2 CP ALB
28 fatty liver disease 30.2 PNPLA3 HFE GPT ALB
29 acute kidney failure 30.2 GPT F2 CAT ALB
30 porphyria cutanea tarda 30.2 HFE CP ALB
31 prion disease 30.2 SOD1 PRNP CAT
32 protein-energy malnutrition 30.1 GPT CP ALB
33 autoimmune hepatitis 30.1 GPT F2 ALB
34 peripheral nervous system disease 30.1 SOD1 GPT CAT ALB
35 neuroblastoma 30.0 SOD1 PRNP COMMD1 CAT ATP7A ALB
36 acute cholangitis 30.0 GPT F2 ALB
37 non-alcoholic steatohepatitis 30.0 PNPLA3 HFE GPT CAT ALB
38 hepatic tuberculosis 30.0 GPT F2 ALB
39 cataract 30.0 SOD1 HFE GPT CP CAT ATP7B
40 acalculous cholecystitis 30.0 GPT F2 ALB
41 drug-induced hepatitis 30.0 GPT F2 ALB
42 hypersplenism 30.0 GPT F2 ALB
43 alcohol use disorder 30.0 HFE GPT DRD2 ALB
44 hepatorenal syndrome 30.0 GPT F2 ALB
45 non-alcoholic fatty liver disease 29.9 PNPLA3 HFE GPT CAT ALB
46 hepatitis e 29.9 GPT F2 ALB
47 obstructive jaundice 29.9 GPT F2 ALB
48 biliary atresia 29.9 GPT F2 ALB
49 parkinson disease, late-onset 29.9 SOD1 PRNP DRD2 CP CAT ALB
50 sclerosing cholangitis 29.9 GPT F2 ALB

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



Diseases related to Wilson Disease

Symptoms & Phenotypes for Wilson Disease

Human phenotypes related to Wilson Disease:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
5 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
6 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
7 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
8 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
9 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
10 cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001394
11 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
12 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
13 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
14 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
15 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
16 back pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0003418
17 proximal muscle weakness in lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0008994
18 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
19 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
20 abnormality of the menstrual cycle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000140
21 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
22 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
23 clumsiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002312
24 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
25 hypersexuality 58 31 hallmark (90%) Very frequent (99-80%) HP:0030214
26 acute hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0006554
27 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
28 abnormality of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001155
29 pathologic fracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0002756
30 increased body weight 58 31 hallmark (90%) Very frequent (99-80%) HP:0004324
31 kayser-fleischer ring 58 31 hallmark (90%) Very frequent (99-80%) HP:0200032
32 acute hepatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200119
33 polyneuropathy 31 occasional (7.5%) HP:0001271
34 hepatocellular carcinoma 31 occasional (7.5%) HP:0001402
35 proteinuria 31 HP:0000093
36 renal tubular dysfunction 31 HP:0000124
37 aminoaciduria 31 HP:0003355
38 dysphagia 31 HP:0002015
39 tremor 31 HP:0001337
40 hepatitis 58 Very frequent (99-80%)
41 chondrocalcinosis 31 HP:0000934
42 osteoporosis 31 HP:0000939
43 hemolytic anemia 31 HP:0001878
44 joint hypermobility 31 HP:0001382
45 nephrolithiasis 31 HP:0000787
46 hypercalciuria 31 HP:0002150
47 osteomalacia 31 HP:0002749
48 hypoparathyroidism 31 HP:0000829
49 dystonia 31 HP:0001332
50 hepatic failure 31 HP:0001399

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
atypical or prolonged hepatitis
hepatic cirrhosis
liver failure
hepatic coma
more
Genitourinary Kidneys:
renal tubular dysfunction
renal calculi

Skeletal:
chondrocalcinosis
osteoporosis
osteomalacia

Skeletal Limbs:
joint hypermobility
osteoarthritis

Head And Neck Eyes:
kayser-fleischer ring

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

Laboratory Abnormalities:
proteinuria
aminoaciduria
hypercalciuria
glycosuria
hyperphosphaturia
more
Neurologic Central Nervous System:
dysphagia
tremor
dysarthria
dystonia
dementia
more
Hematology:
hemolytic anemia

Endocrine Features:
hypoparathyroidism

Abdomen Gastrointestinal:
esophageal varices

Clinical features from OMIM:

277900

UMLS symptoms related to Wilson Disease:


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

GenomeRNAi Phenotypes related to Wilson Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.53 SOD1
2 Decreased viability GR00221-A-3 9.53 SOD1
3 Decreased viability GR00221-A-4 9.53 SOD1
4 Decreased viability GR00249-S 9.53 ALB ATP7A CP SOD1
5 Decreased viability GR00381-A-1 9.53 COMMD1 MBD6
6 Decreased viability GR00386-A-1 9.53 ALB ATOX1 ATP7A SLC31A1
7 Decreased viability GR00402-S-2 9.53 COMMD1 GPT SLC31A1

MGI Mouse Phenotypes related to Wilson Disease:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 ATOX1 ATP7A ATP7B CP DRD2 ESD
2 homeostasis/metabolism MP:0005376 10.31 ALB ATOX1 ATP7A ATP7B CAT COMMD1
3 cardiovascular system MP:0005385 10.22 ALB ATOX1 ATP7A COMMD1 CP DRD2
4 growth/size/body region MP:0005378 10.21 ATOX1 ATP7A ATP7B COMMD1 DRD2 ESD
5 cellular MP:0005384 10.2 ALB ATP7A ATP7B CAT CP DRD2
6 immune system MP:0005387 10.11 ALB ATP7A ATP7B CP DRD2 F2
7 integument MP:0010771 10.02 ATOX1 ATP7A ATP7B DRD2 F2 LOX
8 liver/biliary system MP:0005370 10 ALB ATOX1 ATP7A ATP7B COMMD1 CP
9 mortality/aging MP:0010768 10 ALB ATOX1 ATP7A ATP7B CAT COMMD1
10 nervous system MP:0003631 9.7 ATOX1 ATP7A ATP7B COMMD1 CP DRD2
11 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 top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 3 52-67-5 5852 4727
2 Antidotes Phase 3
3 Protective Agents Phase 3
4 Antirheumatic Agents Phase 3
5
Ethanol Approved Phase 2 64-17-5 702
6
Disulfiram Approved Phase 2 97-77-8 3117
7
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
8
Copper Approved, Investigational Phase 2 7440-50-8 27099
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10
Choline Approved, Nutraceutical Phase 2 62-49-7 305
11 Tocotrienol Investigational Phase 2 6829-55-6
12
Tetrathiomolybdate Investigational Phase 2 16330-92-0
13 Chelating Agents Phase 2
14 Hormones Phase 2
15 Trace Elements Phase 2
16 Nutrients Phase 2
17 Micronutrients Phase 2
18 Vitamins Phase 2
19 Antioxidants Phase 2
20 Soy Bean Phase 2
21 Omega 3 Fatty Acid Phase 2
22 Tocopherols Phase 2
23 Tocotrienols Phase 2
24 Copper Supplement Phase 2
25 Liver Extracts Phase 2
26 Angiogenesis Inhibitors Phase 2
27 Hypolipidemic Agents Phase 2
28 Lipid Regulating Agents Phase 2
29 Gastrointestinal Agents Phase 2
30 Antimetabolites Phase 2
31
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
32
Pioglitazone Approved, Investigational 111025-46-8 4829
33
Pentoxifylline Approved, Investigational 6493-05-6 4740
34
Deferiprone Approved 30652-11-0 2972
35
Succimer Approved Early Phase 1 304-55-2 9354
36
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
37
Lidocaine Approved, Vet_approved 137-58-6 3676
38
Formaldehyde Approved, Vet_approved 50-00-0 712
39
carbamide peroxide Approved 124-43-6
40
Zinc Approved, Investigational 7440-66-6 32051
41
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
42
Aspartic acid Approved, Nutraceutical 56-84-8 5960
43 Phosphodiesterase Inhibitors
44 Hypoglycemic Agents
45 Vasodilator Agents
46 Radiation-Protective Agents
47 Platelet Aggregation Inhibitors
48 Pharmaceutical Solutions
49 Anesthetics
50 Retinol palmitate

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Multicentre, Retrospective and Prospective Study to Assess Long-Term Outcomes of Chelator-Based Treatment With Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine Unknown status NCT02426905 Phase 4 trientine dihydrochloride
2 Study of Zinc for Wilson Disease Completed NCT00004338 Phase 4 zinc acetate
3 Phase3, Open-Label, Clinical Trial of Zinc Acetate for Treatment of Wilson's Disease in Japan. Completed NCT00212355 Phase 3 NPC-02
4 Phase3,Open-label,Clinical Trial of Zinc Acetate for Treatment of Wilson's Disease in Japan. Completed NCT00212368 Phase 3 Zinc acetate
5 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3 tetrathiomolybdate;trientine
6 CHELATE STUDY: Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease Active, not recruiting NCT03539952 Phase 3 TETA 4HCL;Penicillamine
7 A Phase 3, Randomized, Rater-Blinded, Multi-Center Study To Evaluate the Efficacy and Safety of ALXN1840 Administered For 48 Weeks Versus Standard of Care in Patients With Wilson Disease Aged 12 Years and Older With an Extension Period of Up To 60 Months Active, not recruiting NCT03403205 Phase 3 ALXN1840;SoC Therapy
8 A Phase 2, Multi-centre, Open-label, Study to Evaluate the Efficacy and Safety of WTX101 Administered for 24 Weeks in Newly Diagnosed Wilson Disease Patients Aged 18 and Older With an Extension Phase of 12 Months Completed NCT02273596 Phase 2 WTX101
9 A Phase II Trail of Tetrathiomolybdate in Patients With Hormone Refractory Prostate Cancer Completed NCT00150995 Phase 2 Tetrathiomolybdate
10 An Open Label Study of Tetrathiomolybdate in the Treatment of Psoriasis Vulgaris Completed NCT00113542 Phase 2 Tetrathiomolybdate (TM)
11 Phase II Open Labeled Trial of Disulfiram With Copper in Metastatic Breast Cancer Recruiting NCT03323346 Phase 2 Disulfiram
12 The Effect of Vitamin E and Docosahexaenoic Acid Ethyl Ester on Non-Alcoholic Fatty Liver Disease (NAFLD) - Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Clinical Trial (PUVENAFLD) Recruiting NCT04198805 Phase 2
13 A Phase 2, Single-arm, Pathologist-blinded Study Using Liver Biopsy Specimens to Assess Copper Concentration and Histopathologic Changes in Patients With Wilson Disease Who Are Treated With ALXN1840 for 48 Weeks Followed by an Extension Treatment Period With ALXN1840 for up to an Additional 48 Weeks Not yet recruiting NCT04422431 Phase 2 Bis-Choline Tetrathiomolybdate
14 Phase 1 Study of Intrahepatic Reinfusion of Highly Purified CD133+ Stem Cells in Patients With End-Stage Liver Disease Unknown status NCT01025622 Phase 1
15 A Phase 1 Pharmacokinetic Profiling Study in Patients Receiving Trientine Dihydrochloride for the Treatment of Wilson's Disease. Completed NCT01874028 Phase 1 trientine dihydrochloride
16 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
17 Phase I Study of Trientine and Carboplatin in Patients With Advanced Malignancies Completed NCT01178112 Phase 1 Trientine;Carboplatin;Trientine MTD;Carboplatin MTD
18 A Pilot Study of Trientine With Vemurafenib for the Treatment BRAF Mutated Metastatic Melanoma Withdrawn NCT02068079 Phase 1 Vemurafenib and Trientine
19 Study of Writing Improvement in Patients With Wilson Disease and Dystonia After One Session of Inhibitory Repetitive Transcranial Magnetic Stimulation Unknown status NCT01980433
20 Measurement of Fibrinogen in Patients With Systemic Inflammatory Response Syndrome, Sepsis, Chronicle Liver Disease or After Lysis on Intensive Care Units Unknown status NCT01169168
21 Diagnostic Accuracy of 18F-FluoroethylCholine Positron Emission Tomography for Hepatocellular Carcinoma Unknown status NCT02238769
22 Serial HBV DNA Levels During Pregnancy in Patients With Chronic Hepatitis B: a Prospective Observational Follow-up Study Unknown status NCT01610115
23 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Unknown status NCT02852304
24 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Unknown status NCT02851550
25 Utility of Transient Elastography (Fibroscan) in Estimating Hepatic Iron Concentration in Comparison to MRI in Patients With Transfusion Dependent Hemoglobinopathies Unknown status NCT02067130
26 A Study Of Metabolic Factors And Efficacy Of Pentoxifylline Versus Pioglitazone In Lean And Obese Nash (Non-Alcoholic Steatohepatitis) Patients. Unknown status NCT00681733 Pioglitazone;Pioglitazone;Pentoxifylline
27 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
28 Multi-Center Study for the Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment Completed NCT02763215
29 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Wilson Disease Completed NCT03867526
30 Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease Completed NCT01472874 Once a day Trientine
31 Phase IV Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Completed NCT01284127
32 Comparison of FibroScan With Histological Evaluations of Liver Fibrosis in Patients With Hepatitis B and C Presenting for Liver Biopsy Completed NCT00125762
33 Evaluation of the Impact of Bariatric Surgery by Sleeve Gastrectomy on Iron Intestinal Absorption in Morbidly Obese Patients Completed NCT01483768
34 A Registered Cohort Study on Wilson's Disease Recruiting NCT04012658
35 Study of Retinal Vascular Parameters in Patients With Wilson's Disease Recruiting NCT04408300
36 A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease Patients Recruiting NCT03299829 Trientine
37 DEEP BRAIN STIMULATION FOR SEVERE DYSTONIA ASSOCIATED WITH WILSON'S DISEASE. A Prospective Multicenter Meta-analysis of Nof1 Trials Recruiting NCT02552628
38 Natural History of Wilson Disease: Registry for Patients With Wilson Disease Recruiting NCT03334292
39 The Individual Therapy for Patients With Wilson's Disease Recruiting NCT03957720 Early Phase 1 DMPS;Penicillamine;DMSA;Zinc gluconate
40 Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement Recruiting NCT04212195
41 Evaluation of Patients With Liver Disease Recruiting NCT00001971
42 A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
43 Randomized Trial Comparing Endoscopic Ultrasound-guided Liver Biopsy vs. Percutaneous Liver Biopsy Recruiting NCT04003766
44 The Effect of Hericium Erinaceus Mycelium in Non-motor Symptoms of Parkinson's Disease Recruiting NCT04428983
45 A Clinical Study on the Effect of Adjustable Intragastric Balloon in Obese Patients With Non Alcoholic Fatty Liver Disease(NAFLD) or Non-Alcoholic Steatohepatitis (NASH) With or Without Diabetes Mellitus Recruiting NCT04182646
46 Evaluation of Preoperative and Postoperative S100β and Neuron Specific Enolase Levels in Patients Undergoing Liver Transplantation Recruiting NCT03453047
47 A Feasibility Clinical Trial of the Magnetic Resonance Guided Focused Ultrasound (MRgFUS) for the Management of Treatment-Refractory Movement Disorders Active, not recruiting NCT02252380
48 Macrophages and the Macrophage Activation Markers sCD163 and Mannose Receptor (sMR) in Patients With Wilsons Disease - Associations With Liver Disease Severity and Fibrosis Active, not recruiting NCT02702765 Galactose
49 Study of the ISotopic Repartition of cOpper in Head and Neck TumOral and lymPhomatous pathologiEs Active, not recruiting NCT02864836
50 A Multi-Center Trial to Study Acute Liver Failure in Adults Active, not recruiting NCT00518440

Search NIH Clinical Center for Wilson Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Trientine
Trientine hydrochloride

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:

40
Liver, Brain, Eye, Kidney, Testes, 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 2405)
# Title Authors PMID Year
1
The Wilson disease gene: spectrum of mutations and their consequences. 56 6 24 61 54
7626145 1995
2
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 24 56 6 61
10502776 1999
3
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. 61 56 6 24
8298639 1993
4
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 6 56 54 61
17717039 2007
5
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. 6 56 54 61
17587212 2007
6
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. 61 54 6 56
9554743 1998
7
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. 61 6 56
15952988 2005
8
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). 54 61 24 6
15523622 2004
9
Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. 61 6 54 24
14616767 2003
10
Two families with Wilson disease in which siblings showed different phenotypes. 61 6 56
12376745 2002
11
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. 61 56 6
11093740 2000
12
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 54 56 6
10790207 2000
13
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 56 61 6
9671269 1998
14
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 61 6 56
8533760 1995
15
Wilson disease in Iceland: a clinical and genetic study. 61 56 6
7726170 1995
16
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. 61 54 56 24
8298641 1993
17
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 6 56
21796144 2011
18
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. 56 6
19419418 2009
19
Diagnosis and treatment of Wilson disease: an update. 6 24 61
18506894 2008
20
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. 56 6
16283883 2005
21
Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. 61 56 24
12633149 2003
22
Severe hepatic Wilson's disease in preschool-aged children. 24 54 6
11060541 2000
23
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 61 6 24
9311736 1997
24
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 6 54 61
18371106 2008
25
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. 6 54 61
18483695 2008
26
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. 54 61 56
16791614 2006
27
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. 6 24
14986826 2003
28
Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. 24 56
11806854 2001
29
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. 61 54 56
10942420 2000
30
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. 6 61 54
10721669 2000
31
Haplotype and mutation analysis in Greek patients with Wilson disease. 6 61 54
9801873 1998
32
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 6 54 61
9482578 1998
33
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. 56 54 61
7951327 1994
34
Haplotype studies in Wilson disease. 54 61 56
8279472 1994
35
Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease. 54 56 61
8432554 1993
36
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease. 6 61
19371217 2009
37
Analysis of the human Atox 1 homologue in Wilson patients. 54 24 61
18416466 2008
38
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 61 56
18034201 2008
39
Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. 56 61
17259995 2007
40
Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. 56 61
16606763 2006
41
Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels. 24 54 61
16610028 2006
42
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. 54 24 61
16222684 2005
43
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. 6 61
16207219 2005
44
Wilson disease with an initial manifestation of polyneuropathy. 61 56
16216950 2005
45
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 61 56
16133174 2005
46
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 6 61
15967699 2005
47
Wilson disease: high prevalence in a mountainous area of Crete. 6 61
15845031 2005
48
Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. 61 6
15557537 2004
49
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. 61 54 24
15519648 2004
50
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. 61 54 24
14966923 2004

Variations for Wilson Disease

ClinVar genetic disease variations for Wilson Disease:

6 (show top 50) (show all 674) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP7B NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)SNV Pathogenic 424618 rs1064797072 13:52518252-52518252 13:51944116-51944116
2 ATP7B NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)SNV Pathogenic 430725 rs560952220 13:52516629-52516629 13:51942493-51942493
3 ATP7B NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)SNV Pathogenic 456553 rs137853284 13:52532470-52532470 13:51958334-51958334
4 ATP7B NC_000013.11:g.(?_51973915)_(51975188_?)deldeletion Pathogenic 456550 13:51973915-51975188
5 ATP7B NM_000053.4(ATP7B):c.2304dup (p.Met769fs)duplication Pathogenic 456552 rs137853287 13:52532497-52532498 13:51958361-51958362
6 ATP7B NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)SNV Pathogenic 495405 rs1394999756 13:52532671-52532671 13:51958535-51958535
7 ATP7B NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)SNV Pathogenic 495412 rs1286080173 13:52516687-52516687 13:51942551-51942551
8 ATP7B NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs)indel Pathogenic 526654 rs1555288808 13:52524504-52524505 13:51950368-51950369
9 ATP7B NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)SNV Pathogenic 552915 rs1555283994 13:52511793-52511793 13:51937657-51937657
10 ATP7B NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)deletion Pathogenic 551108 rs762031690 13:52518341-52518341 13:51944205-51944205
11 ATP7B NM_000053.3(ATP7B):c.-436_-422del15deletion Pathogenic 555936 rs1484840087 13:52585895-52585909 13:52011759-52011773
12 ATP7B NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)SNV Pathogenic 555174 rs751202110 13:52532657-52532657 13:51958521-51958521
13 ATP7B NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)SNV Pathogenic 550914 rs28942074 13:52532469-52532469 13:51958333-51958333
14 ATP7B NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)SNV Pathogenic 553388 rs761084829 13:52548362-52548362 13:51974226-51974226
15 ATP7B NM_000053.4(ATP7B):c.111dup (p.Ala38fs)duplication Pathogenic 554880 rs1555296939 13:52549244-52549245 13:51975108-51975109
16 ATP7B NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)deletion Pathogenic 552929 rs1555283564 13:52511427-52511427 13:51937291-51937291
17 ATP7B NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)SNV Pathogenic 552606 rs752850609 13:52539030-52539030 13:51964894-51964894
18 ATP7B NM_000053.4(ATP7B):c.1708-25_1719deldeletion Pathogenic 573285 rs1566560096 13:52539158-52539194 13:51965022-51965058
19 ATP7B NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val)SNV Pathogenic 590805 rs1566532164 13:52532451-52532451 13:51958315-51958315
20 ATP7B NM_000053.4(ATP7B):c.1543+1G>TSNV Pathogenic 590806 rs1360279134 13:52544627-52544627 13:51970491-51970491
21 ATP7B NM_000053.4(ATP7B):c.2866-2A>GSNV Pathogenic 623292 rs1377418826 13:52520616-52520616 13:51946480-51946480
22 ATP7B NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs)indel Pathogenic 633073 rs1331370011 13:52518403-52518405 13:51944267-51944269
23 ATP7B NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)SNV Pathogenic 633075 rs1566498495 13:52523868-52523868 13:51949732-51949732
24 ATP7B NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)SNV Pathogenic 633071 rs1449610384 13:52544640-52544640 13:51970504-51970504
25 ATP7B NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)deletion Pathogenic 633074 rs1566598496 13:52548548-52548554 13:51974412-51974418
26 ATP7B NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)deletion Pathogenic 663269 13:52548197-52548198 13:51974061-51974062
27 ATP7B NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)SNV Pathogenic 665925 13:52509831-52509831 13:51935695-51935695
28 ATP7B NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)SNV Pathogenic 660004 13:52511631-52511631 13:51937495-51937495
29 ATP7B NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)SNV Pathogenic 642900 13:52524211-52524211 13:51950075-51950075
30 ATP7B NM_000053.4(ATP7B):c.2510dup (p.Phe839fs)duplication Pathogenic 662996 13:52524472-52524473 13:51950336-51950337
31 ATP7B NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer)deletion Pathogenic 659871 13:52532657-52532657 13:51958521-51958521
32 ATP7B NM_000053.4(ATP7B):c.213_214del (p.Val73fs)deletion Pathogenic 647773 13:52549142-52549143 13:51975006-51975007
33 ATP7B NC_000013.11:g.(?_51944089)_(51946498_?)deldeletion Pathogenic 654667 13:52518225-52520634 13:51944089-51946498
34 ATP7B NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)SNV Pathogenic 800870 13:52532572-52532572 13:51958436-51958436
35 ATP7B NM_000053.4(ATP7B):c.2866-2deldeletion Pathogenic 811491 13:52520616-52520616 13:51946480-51946480
36 ATP7B NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter)SNV Pathogenic 811264 13:52549073-52549073 13:51974937-51974937
37 ATP7B NM_000053.4(ATP7B):c.2009_2010AT[4] (p.Met671fs)short repeat Pathogenic 813488 13:52534392-52534393 13:51960256-51960257
38 ATP7B NC_000013.11:g.(?_51934736)_(52028610_?)deldeletion Pathogenic 831527 13:52508872-52602746
39 ATP7B NC_000013.11:g.(?_51934746)_(51950409_?)deldeletion Pathogenic 830995 13:52508882-52524545
40 ATP7B NC_000013.11:g.(?_51934746)_(52029658_?)deldeletion Pathogenic 833271 13:52508882-52603794
41 ATP7B NC_000013.11:g.(?_51973925)_(51975178_?)deldeletion Pathogenic 832612 13:52548061-52549314
42 ATP7B NC_000013.11:g.(?_52011277)_(52029658_?)deldeletion Pathogenic 832302 13:52585413-52603794
43 ATP7B NM_000053.4(ATP7B):c.3974del (p.Leu1325fs)deletion Pathogenic 860819 13:52511459-52511459 13:51937323-51937323
44 ATP7B NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)SNV Pathogenic 835275 13:52511473-52511473 13:51937337-51937337
45 ATP7B NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs)duplication Pathogenic 850220 13:52513297-52513298 13:51939161-51939162
46 ATP7B NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)SNV Pathogenic 862055 13:52520556-52520556 13:51946420-51946420
47 ATP7B NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)deletion Pathogenic 863481 13:52532575-52532575 13:51958439-51958439
48 ATP7B NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)SNV Pathogenic 861182 13:52532579-52532579 13:51958443-51958443
49 ATP7B NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer)deletion Pathogenic 835191 13:52532645-52532645 13:51958509-51958509
50 ATP7B NM_000053.4(ATP7B):c.2781del (p.Phe927fs)deletion Pathogenic 847147 13:52523882-52523882 13:51949746-51949746

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

73 (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 rs155528591
39 ATP7B p.Gly1089Val VAR_000761
40 ATP7B p.Gly1101Arg VAR_000762 rs786204483
41 ATP7B p.Ile1102Thr VAR_000763 rs560952220
42 ATP7B p.Gln1142His VAR_000766 rs778749563
43 ATP7B p.Val1146Met VAR_000767 rs121348114
44 ATP7B p.Ile1148Thr VAR_000768 rs60431989
45 ATP7B p.Trp1153Cys VAR_000769 rs133062011
46 ATP7B p.Met1169Val VAR_000770 rs749085322
47 ATP7B p.Ala1183Gly VAR_000771 rs587783315
48 ATP7B p.Gly1186Cys VAR_000773
49 ATP7B p.Gly1213Val VAR_000775 rs155528458
50 ATP7B p.Val1216Met VAR_000776 rs776280797

Expression for Wilson Disease

Search GEO for disease gene expression data for Wilson Disease.

Pathways for Wilson Disease

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 9.76 SOD1 LOX HFE GPT F2 CP
2 endoplasmic reticulum lumen GO:0005788 9.56 F2 ESD CP ALB
3 cytoplasmic vesicle GO:0031410 9.43 SOD1 HFE ESD DRD2 COMMD1 ATP7B
4 cell GO:0005623 9.36 SOD1 SLC31A1 PRNP LOX HFE F2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 SLC31A1 HFE CP ATP7B ATP7A ATOX1
2 negative regulation of apoptotic process GO:0043066 9.96 SOD1 PRNP CAT ATOX1 ALB
3 response to drug GO:0042493 9.89 SOD1 LOX DRD2 CAT
4 response to ethanol GO:0045471 9.77 SOD1 DRD2 CAT
5 response to oxidative stress GO:0006979 9.76 SOD1 PRNP CAT ATOX1
6 locomotory behavior GO:0007626 9.74 SOD1 DRD2 ATP7A
7 cellular iron ion homeostasis GO:0006879 9.7 SOD1 HFE CP
8 response to reactive oxygen species GO:0000302 9.58 SOD1 CAT
9 dopamine metabolic process GO:0042417 9.58 DRD2 ATP7A
10 removal of superoxide radicals GO:0019430 9.55 SOD1 ATP7A
11 elastic fiber assembly GO:0048251 9.54 LOX ATP7A
12 metal ion transport GO:0030001 9.54 ATP7B ATP7A ATOX1
13 cellular response to iron ion GO:0071281 9.51 HFE ATP7A
14 copper ion import GO:0015677 9.5 SLC31A1 ATP7B ATP7A
15 copper ion transmembrane transport GO:0035434 9.48 SLC31A1 ATP7B
16 response to copper ion GO:0046688 9.46 SOD1 PRNP ATP7B ATP7A
17 divalent inorganic cation transport GO:0072511 9.43 ATP7B ATP7A
18 copper ion export GO:0060003 9.43 ATP7B ATP7A ATOX1
19 response to inactivity GO:0014854 9.4 DRD2 CAT
20 copper ion transport GO:0006825 9.35 SLC31A1 CP ATP7B ATP7A ATOX1
21 cellular copper ion homeostasis GO:0006878 9.02 SLC31A1 PRNP ATP7B ATP7A ATOX1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.01 SOD1 SLC31A1 PRNP ESD DRD2 COMMD1
2 chaperone binding GO:0051087 9.55 SOD1 PRNP CP ATP7A ALB
3 cation-transporting ATPase activity GO:0019829 9.46 ATP7B ATP7A
4 cuprous ion binding GO:1903136 9.43 PRNP ATP7A
5 antioxidant activity GO:0016209 9.43 SOD1 CAT ALB
6 copper-dependent protein binding GO:0032767 9.37 ATP7A ATOX1
7 copper-transporting ATPase activity GO:0043682 9.32 ATP7B ATP7A
8 copper ion binding GO:0005507 9.28 SOD1 PRNP LOX CP COMMD1 ATP7B
9 copper ion transmembrane transporter activity GO:0005375 9.13 SLC31A1 ATP7B ATP7A

Sources for Wilson Disease

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