WND
MCID: WLS001
MIFTS: 70

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 57 12 73 25 20 43 53 58 72 36 29 13 54 6 42 15 37
Hepatolenticular Degeneration 57 12 25 20 58 72 44 70
Wilson's Disease 12 73 43 15 39
Wd 57 20 43 72
Wnd 57 20
Hepatolenticular Degeneration Syndrome 43
Westphal-Strumpell Syndrome 12
Cerebral Pseudosclerosis 12
Westphal Pseudosclerosis 12
Copper Storage Disease 43

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®:

57 (Updated 20-May-2021)
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, nausea and vomiting and tremor. An important gene associated with Wilson Disease is ATP7B (ATPase Copper Transporting Beta), and among its related pathways/superpathways are Platinum drug resistance and Mineral absorption. The drugs Penicillamine and Zinc have been mentioned in the context of this disorder. Affiliated tissues include Liver, eye and brain, and related phenotypes are intellectual disability and failure to thrive

MedlinePlus Genetics : 43 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.

GARD : 20 Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.

OMIM® : 57 Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease. (277900) (Updated 20-May-2021)

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 : 72 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 : 73 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 585)
# Related Disease Score Top Affiliating Genes
1 disorder of copper metabolism 31.8 ATP7B ATP7A
2 liver disease 31.7 TNF PNPLA3 HFE GPT CP ATP7B
3 liver cirrhosis 30.7 TNF PNPLA3 HFE GPT CP ATP7B
4 portal hypertension 30.6 TNF PNPLA3 GPT
5 hemosiderosis 30.6 HFE GPT CP
6 hemochromatosis, type 1 30.5 SOD1 HFE GPT CP ATP7B
7 alpha-1-antitrypsin deficiency 30.4 TNF HFE GPT
8 siderosis 30.3 HFE GPT CP
9 aceruloplasminemia 30.3 SOD1 NPC1 HFE CP ATP7B ATP7A
10 fatty liver disease 30.2 TNF PNPLA3 HFE GPT
11 non-alcoholic steatohepatitis 30.2 TNF PNPLA3 HFE GPT
12 protein-energy malnutrition 30.0 TNF GPT CP
13 iron deficiency anemia 30.0 TNF HFE CP
14 occipital horn syndrome 30.0 LOX DBH CP ATP7B ATP7A ATOX1
15 alcoholic liver cirrhosis 29.9 TNF PNPLA3 GPT
16 alcoholic hepatitis 29.9 TNF PNPLA3 GPT
17 menkes disease 29.9 SOD1 SLC31A1 LOX DNAH8 DBH CP
18 granulocytopenia 29.9 TNF CP
19 prion disease 29.8 TNF SOD1 PRNP
20 viral hepatitis 29.7 TNF PNPLA3 HFE GPT CP
21 peripheral nervous system disease 29.7 TNF SOD1 HFE GPT
22 inherited metabolic disorder 29.6 TNF PNPLA3 NPC1 HFE GPT CP
23 neuroblastoma 29.6 TNF SOD1 PRNP DBH COMMD1 ATP7A
24 deficiency anemia 29.5 TNF SOD1 SLC31A1 HFE GPT CP
25 striatonigral degeneration, infantile 11.0
26 dystonia 11, myoclonic 11.0
27 autosomal recessive disease 10.9
28 acute liver failure 10.7
29 tremor 10.6
30 dystonia 10.5
31 hemolytic anemia 10.4
32 meningitis and encephalitis 10.4 SOD1 CP
33 non-alcoholic fatty liver disease 10.4
34 encephalopathy 10.4
35 paraquat poisoning 10.4 SOD1 GPT
36 hydrops of gallbladder 10.3 GPT CP
37 movement disease 10.3
38 eales disease 10.3 TNF SOD1 CP
39 dopamine beta-hydroxylase deficiency 10.3 DBH ATP7A ATOX1
40 hepatic encephalopathy 10.3
41 splenomegaly 10.3
42 critical illness polyneuropathy 10.3 TNF GPT
43 gastrointestinal tuberculosis 10.3 TNF GPT
44 ataxia and polyneuropathy, adult-onset 10.2
45 hepatic coma 10.2
46 cholestasis 10.2
47 thrombocytopenia 10.2
48 syphilis 10.2 TNF GPT CP
49 granulomatous hepatitis 10.2 TNF GPT
50 pick disease of brain 10.2 SOD1 PRNP NPC1 ATP7A

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 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
4 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
5 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
6 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
7 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
8 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
9 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
10 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
11 cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001394
12 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
13 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
14 back pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0003418
15 proximal muscle weakness in lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0008994
16 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
17 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
18 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
19 abnormality of the menstrual cycle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000140
20 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
21 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
22 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
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 tremor 31 HP:0001337
36 dysphagia 31 HP:0002015
37 proteinuria 31 HP:0000093
38 renal tubular dysfunction 31 HP:0000124
39 aminoaciduria 31 HP:0003355
40 hepatitis 58 Very frequent (99-80%)
41 osteoporosis 31 HP:0000939
42 hemolytic anemia 31 HP:0001878
43 joint hypermobility 31 HP:0001382
44 nephrolithiasis 31 HP:0000787
45 hypercalciuria 31 HP:0002150
46 osteomalacia 31 HP:0002749
47 hypoparathyroidism 31 HP:0000829
48 dystonia 31 HP:0001332
49 hepatic failure 31 HP:0001399
50 osteoarthritis 31 HP:0002758

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
tremor
dysphagia
dystonia
dementia
more
Laboratory Abnormalities:
proteinuria
aminoaciduria
hypercalciuria
glycosuria
hyperphosphaturia
more
Skeletal:
osteoporosis
osteomalacia
chondrocalcinosis

Skeletal Limbs:
joint hypermobility
osteoarthritis

Head And Neck Eyes:
kayser-fleischer ring

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

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

Hematology:
hemolytic anemia

Endocrine Features:
hypoparathyroidism

Abdomen Gastrointestinal:
esophageal varices

Clinical features from OMIM®:

277900 (Updated 20-May-2021)

UMLS symptoms related to Wilson Disease:


seizures; nausea and vomiting; tremor; constipation; back pain; abdominal pain; headache; syncope; diarrhea; personality changes; pain; chronic pain; sciatica; dyspepsia; icterus; vertigo/dizziness; sleeplessness; 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 9.58 SOD1
2 Decreased viability GR00221-A-3 9.58 SOD1
3 Decreased viability GR00221-A-4 9.58 SOD1
4 Decreased viability GR00249-S 9.58 ATP7A CCS CP SOD1
5 Decreased viability GR00381-A-1 9.58 COMMD1 MBD6
6 Decreased viability GR00386-A-1 9.58 ATOX1 ATP7A DBH SLC31A1
7 Decreased viability GR00402-S-2 9.58 CCS COMMD1 GPT SLC31A1 TNF

MGI Mouse Phenotypes related to Wilson Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ATOX1 ATP7A ATP7B CP DBH HFE
2 homeostasis/metabolism MP:0005376 10.27 ATOX1 ATP7A ATP7B CCS COMMD1 CP
3 cardiovascular system MP:0005385 10.23 ATOX1 ATP7A COMMD1 CP DBH ESD
4 growth/size/body region MP:0005378 10.22 ATOX1 ATP7A ATP7B COMMD1 DBH HFE
5 cellular MP:0005384 10.17 ATP7A ATP7B CCS CP DNAH8 HFE
6 integument MP:0010771 10.06 ATOX1 ATP7A ATP7B DBH LOX NPC1
7 liver/biliary system MP:0005370 10 ATOX1 ATP7A ATP7B COMMD1 CP HFE
8 mortality/aging MP:0010768 9.97 ATOX1 ATP7A ATP7B COMMD1 DBH HFE
9 nervous system MP:0003631 9.73 ATOX1 ATP7A ATP7B COMMD1 CP DBH
10 pigmentation MP:0001186 9.02 ATOX1 ATP7A ATP7B CP SLC31A1

Drugs & Therapeutics for Wilson Disease

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 5852 4727
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3 Trientine Phase 3
4 Antidotes Phase 3
5 Antirheumatic Agents Phase 3
6 Protective Agents Phase 3
7
Copper Approved, Investigational Phase 2 7440-50-8 27099
8
Molybdenum Approved Phase 2 7439-98-7 185498
9 Copper Supplement Phase 2
10 Liver Extracts Phase 1, Phase 2
11
Disulfiram Approved Phase 1 97-77-8 3117
12
Celecoxib Approved, Investigational Phase 1 169590-42-5 2662
13
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
14
Bupropion Approved Phase 1 34911-55-2, 34841-39-9 444
15
Choline Approved, Nutraceutical Phase 1 62-49-7 305
16
Tetrathiomolybdate Investigational Phase 1 16330-92-0
17 Trace Elements Phase 1
18 Nutrients Phase 1
19 Micronutrients Phase 1
20 Cyclooxygenase 2 Inhibitors Phase 1
21 Analgesics Phase 1
22 Anti-Inflammatory Agents, Non-Steroidal Phase 1
23 Anti-Inflammatory Agents Phase 1
24 Cyclooxygenase Inhibitors Phase 1
25 Analgesics, Non-Narcotic Phase 1
26 Chelating Agents Phase 1
27 Antimetabolites Phase 1
28 Gastrointestinal Agents Phase 1
29 Angiogenesis Inhibitors Phase 1
30 Hypolipidemic Agents Phase 1
31 Nootropic Agents Phase 1
32 Lipid Regulating Agents Phase 1
33 Psychotropic Drugs Phase 1
34 Dopamine Agents Phase 1
35 Dopamine Uptake Inhibitors Phase 1
36 Neurotransmitter Agents Phase 1
37 Antidepressive Agents Phase 1
38 Cytochrome P-450 Enzyme Inhibitors Phase 1
39
Succimer Approved Early Phase 1 304-55-2 9354
40
Ethanol Approved 64-17-5 702
41
Formaldehyde Approved, Vet_approved 50-00-0 712
42
Lidocaine Approved, Vet_approved 137-58-6 3676
43
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
44
Bilirubin 635-65-4 5280352
45 Retinol palmitate
46 Anesthetics
47 Pharmaceutical Solutions
48 Anti-Bacterial Agents
49 Antibiotics, Antitubercular
50 retinol

Interventional clinical trials:

(show all 33)
# 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 36 Months Completed NCT02273596 Phase 2 ALXN1840
9 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 Recruiting NCT04422431 Phase 2 Bis-Choline Tetrathiomolybdate
10 A Phase 2, Open-label Study to Assess Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840 Recruiting NCT04573309 Phase 2 ALXN1840
11 A Phase I/II, Multicenter, Non-randomized, Open Label, Adaptive Design, 5-year Follow-up, Single Dose-escalation Study of VTX-801 in Adult Patients With Wilson's Disease Not yet recruiting NCT04537377 Phase 1, Phase 2
12 A Phase 1 Pharmacokinetic Profiling Study in Patients Receiving Trientine Dihydrochloride for the Treatment of Wilson's Disease. Completed NCT01874028 Phase 1 trientine dihydrochloride
13 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
14 A Phase 1, Randomized, 2-Period, 2-Sequence, Cross-over Study to Determine the Effect of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants. Active, not recruiting NCT04526197 Phase 1 ALXN1840;Celecoxib
15 A Phase 1, Randomized, 2-Period, 2-Sequence, Cross-over Study to Determine the Effect of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants Enrolling by invitation NCT04526210 Phase 1 ALXN1840;Bupropion Hydrochloride
16 Clinical Efficacy of Artificial Liver Support System Using Combination of Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson's Disease - Related Liver Failure Unknown status NCT03589820
17 A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease Unknown status NCT03659331
18 Study of Writing Improvement in Patients With Wilson Disease and Dystonia After One Session of Inhibitory Repetitive Transcranial Magnetic Stimulation Unknown status NCT01980433
19 A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease Patients Completed NCT03299829 Trientine
20 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
21 Multi-Center Study for the Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment Completed NCT02763215 Standard of Care Medications
22 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Wilson Disease Completed NCT03867526
23 Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease Completed NCT01472874 Once a day Trientine
24 Natural History of Wilson Disease: Registry for Patients With Wilson Disease Recruiting NCT03334292
25 Study of Retinal Vascular Parameters in Patients With Wilson's Disease Recruiting NCT04408300
26 Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement Recruiting NCT04212195
27 The Individual Therapy for Patients With Wilson's Disease Recruiting NCT03957720 Early Phase 1 DMPS;Penicillamine;DMSA;Zinc gluconate
28 A Registered Cohort Study on Wilson's Disease Recruiting NCT04012658
29 DEEP BRAIN STIMULATION FOR SEVERE DYSTONIA ASSOCIATED WITH WILSON'S DISEASE. A Prospective Multicenter Meta-analysis of Nof1 Trials Recruiting NCT02552628
30 Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease Recruiting NCT04531189
31 Randomized Trial Comparing Endoscopic Ultrasound-guided Liver Biopsy vs. Percutaneous Liver Biopsy Recruiting NCT04003766
32 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
33 A Feasibility Clinical Trial of the Magnetic Resonance Guided Focused Ultrasound (MRgFUS) for the Management of Treatment-Refractory Movement Disorders Active, not recruiting NCT02252380

Search NIH Clinical Center for Wilson Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Eye, Brain, Bone, Bone Marrow, Heart, Kidney
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 2579)
# Title Authors PMID Year
1
The Wilson disease gene: spectrum of mutations and their consequences. 54 6 57 25 61
7626145 1995
2
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. 57 61 54 25 6
8298641 1993
3
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 61 6 25 57
10502776 1999
4
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. 61 25 57 6
8298639 1993
5
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 54 61 57 6
17717039 2007
6
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. 6 61 54 57
17587212 2007
7
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. 61 54 57 6
16791614 2006
8
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. 61 54 6 57
10942420 2000
9
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. 6 61 57 54
9554743 1998
10
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 6 57 61
18034201 2008
11
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 61 57 6
16133174 2005
12
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. 6 57 61
15952988 2005
13
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). 25 54 6 61
15523622 2004
14
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. 61 6 54 25
14966923 2004
15
Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. 61 54 6 25
14616767 2003
16
Two families with Wilson disease in which siblings showed different phenotypes. 61 6 57
12376745 2002
17
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. 6 25 54 61
11690702 2001
18
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. 6 57 61
11093740 2000
19
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 57 6 54
10790207 2000
20
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. 57 6 61
10441329 1999
21
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 61 57 6
9671269 1998
22
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 57 6 61
8533760 1995
23
Wilson disease in Iceland: a clinical and genetic study. 57 61 6
7726170 1995
24
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. 61 6 57
8298640 1993
25
Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease. 6 61 25
24118554 2013
26
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. 61 25 6
23486543 2013
27
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 61 6 25
22763723 2012
28
Clinical presentation and mutations in Danish patients with Wilson disease. 25 6 61
21610751 2011
29
Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment. 61 25 6
21707886 2011
30
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 6 57
21796144 2011
31
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. 6 25 61
20958917 2011
32
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 25 6 61
20517649 2010
33
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. 6 25 61
19937698 2009
34
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. 6 57
19419418 2009
35
Sequence variation database for the Wilson disease copper transporter, ATP7B. 25 6 61
17680703 2007
36
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. 57 6
16283883 2005
37
The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. 25 6 61
15205462 2004
38
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. 6 61 25
15024742 2004
39
Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. 25 57 61
12633149 2003
40
Severe hepatic Wilson's disease in preschool-aged children. 25 6 54
11060541 2000
41
Oxidative-phosphorylation defects in liver of patients with Wilson's disease. 57 6
10981891 2000
42
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 61 25 6
9311736 1997
43
A genetic study of Wilson's disease in the United Kingdom. 6 25
23518715 2013
44
Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease. 25 6
21334398 2011
45
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. 61 6 54
20333758 2010
46
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 54 61 6
18371106 2008
47
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. 54 6 61
18373411 2008
48
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. 54 61 6
18483695 2008
49
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. 6 61 54
17823867 2007
50
Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. 54 61 6
17876883 2007

Variations for Wilson Disease

ClinVar genetic disease variations for Wilson Disease:

6 (show top 50) (show all 831)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP7B NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) SNV Pathogenic 3852 rs28942074 GRCh37: 13:52532469-52532469
GRCh38: 13:51958333-51958333
2 ATP7B ATP7B, 15-BP DEL, NT-441 Deletion Pathogenic 3853 GRCh37:
GRCh38:
3 ATP7B ATP7B, 3-BP DEL, 3892GTC Deletion Pathogenic 3854 GRCh37:
GRCh38:
4 ATP7B NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) SNV Pathogenic 3855 rs28942075 GRCh37: 13:52532509-52532509
GRCh38: 13:51958373-51958373
5 ATP7B NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) SNV Pathogenic 3856 rs28942076 GRCh37: 13:52523836-52523836
GRCh38: 13:51949700-51949700
6 ATP7B ATP7B, 1-BP DEL, 2511A Deletion Pathogenic 3858 GRCh37:
GRCh38:
7 ATP7B NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) SNV Pathogenic 3861 rs121907997 GRCh37: 13:52532505-52532505
GRCh38: 13:51958369-51958369
8 ATP7B NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) SNV Pathogenic 3864 rs121907999 GRCh37: 13:52548491-52548491
GRCh38: 13:51974355-51974355
9 ATP7B ATP7B, 7-BP DEL, NT2010 Deletion Pathogenic 3843 GRCh37:
GRCh38:
10 ATP7B ATP7B, 1-BP DEL, 2337C Deletion Pathogenic 3846 GRCh37:
GRCh38:
11 ATP7B ATP7B, 1-BP INS, NT2487 Insertion Pathogenic 3847 GRCh37:
GRCh38:
12 ATP7B NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) SNV Pathogenic 157943 rs587783307 GRCh37: 13:52520469-52520469
GRCh38: 13:51946333-51946333
13 ATP7B NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) Deletion Pathogenic 88958 rs137853281 GRCh37: 13:52516532-52516532
GRCh38: 13:51942396-51942396
14 ATP7B NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) Deletion Pathogenic 188862 rs779904655 GRCh37: 13:52534390-52534396
GRCh38: 13:51960254-51960260
15 ATP7B NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) SNV Pathogenic 188879 rs768671894 GRCh37: 13:52524464-52524464
GRCh38: 13:51950328-51950328
16 ATP7B NM_000053.4(ATP7B):c.2532del (p.Val845fs) Deletion Pathogenic 188883 rs755709270 GRCh37: 13:52524451-52524451
GRCh38: 13:51950315-51950315
17 ATP7B NM_000053.4(ATP7B):c.383del (p.Gly128fs) Deletion Pathogenic 208563 rs797045083 GRCh37: 13:52548973-52548973
GRCh38: 13:51974837-51974837
18 ATP7B NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) Duplication Pathogenic 210483 rs768729972 GRCh37: 13:52532636-52532637
GRCh38: 13:51958500-51958501
19 ATP7B NM_000053.3(ATP7B):c.-441_-427del15 Deletion Pathogenic 252913 rs879255499 GRCh37: 13:52585898-52585912
GRCh38: 13:52011762-52011776
20 ATP7B NM_000053.4(ATP7B):c.51+4A>T SNV Pathogenic 312401 rs369488210 GRCh37: 13:52585419-52585419
GRCh38: 13:52011283-52011283
21 ATP7B NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) Microsatellite Pathogenic 371438 rs771603301 GRCh37: 13:52509760-52509761
GRCh38: 13:51935624-51935625
22 ATP7B NM_000053.4(ATP7B):c.3904-2A>G SNV Pathogenic 371387 rs1057517233 GRCh37: 13:52511531-52511531
GRCh38: 13:51937395-51937395
23 ATP7B NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) SNV Pathogenic 371170 rs755584106 GRCh37: 13:52509739-52509739
GRCh38: 13:51935603-51935603
24 ATP7B NM_000053.4(ATP7B):c.1708-1G>A SNV Pathogenic 370195 rs137853280 GRCh37: 13:52539170-52539170
GRCh38: 13:51965034-51965034
25 ATP7B NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) SNV Pathogenic 424618 rs1064797072 GRCh37: 13:52518252-52518252
GRCh38: 13:51944116-51944116
26 ATP7B NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) SNV Pathogenic 225299 rs1085307057 GRCh37: 13:52532653-52532653
GRCh38: 13:51958517-51958517
27 ATP7B NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) SNV Pathogenic 430725 rs560952220 GRCh37: 13:52516629-52516629
GRCh38: 13:51942493-51942493
28 ATP7B NM_000053.4(ATP7B):c.2304dup (p.Met769fs) Duplication Pathogenic 456552 rs137853287 GRCh37: 13:52532497-52532498
GRCh38: 13:51958361-51958362
29 ATP7B NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) SNV Pathogenic 456556 rs1555285891 GRCh37: 13:52516650-52516650
GRCh38: 13:51942514-51942514
30 ATP7B NC_000013.11:g.(?_51973915)_(51975188_?)del Deletion Pathogenic 456550 GRCh37:
GRCh38: 13:51973915-51975188
31 ATP7B NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) SNV Pathogenic 495405 rs1394999756 GRCh37: 13:52532671-52532671
GRCh38: 13:51958535-51958535
32 ATP7B NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) Deletion Pathogenic 523941 rs1176709391 GRCh37: 13:52548205-52548211
GRCh38: 13:51974069-51974075
33 ATP7B NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) Indel Pathogenic 526654 rs1555288808 GRCh37: 13:52524504-52524505
GRCh38: 13:51950368-51950369
34 ATP7B NM_000053.4(ATP7B):c.2304del (p.Met769fs) Deletion Pathogenic 88957 rs137853287 GRCh37: 13:52532498-52532498
GRCh38: 13:51958362-51958362
35 ATP7B NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) Deletion Pathogenic 551108 rs762031690 GRCh37: 13:52518341-52518341
GRCh38: 13:51944205-51944205
36 ATP7B NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) SNV Pathogenic 552606 rs752850609 GRCh37: 13:52539030-52539030
GRCh38: 13:51964894-51964894
37 ATP7B NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) SNV Pathogenic 552915 rs1555283994 GRCh37: 13:52511793-52511793
GRCh38: 13:51937657-51937657
38 ATP7B NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) Deletion Pathogenic 552929 rs1555283564 GRCh37: 13:52511427-52511427
GRCh38: 13:51937291-51937291
39 ATP7B NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) SNV Pathogenic 553388 rs761084829 GRCh37: 13:52548362-52548362
GRCh38: 13:51974226-51974226
40 ATP7B NM_000053.4(ATP7B):c.111dup (p.Ala38fs) Duplication Pathogenic 554880 rs1555296939 GRCh37: 13:52549244-52549245
GRCh38: 13:51975108-51975109
41 ATP7B NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) SNV Pathogenic 555174 rs751202110 GRCh37: 13:52532657-52532657
GRCh38: 13:51958521-51958521
42 ATP7B NM_000053.4(ATP7B):c.1708-25_1719del Deletion Pathogenic 573285 rs1566560096 GRCh37: 13:52539158-52539194
GRCh38: 13:51965022-51965058
43 ATP7B NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val) SNV Pathogenic 590805 rs1566532164 GRCh37: 13:52532451-52532451
GRCh38: 13:51958315-51958315
44 ATP7B NM_000053.4(ATP7B):c.1543+1G>T SNV Pathogenic 590806 rs1360279134 GRCh37: 13:52544627-52544627
GRCh38: 13:51970491-51970491
45 ATP7B NM_000053.4(ATP7B):c.2866-2A>G SNV Pathogenic 623292 rs1377418826 GRCh37: 13:52520616-52520616
GRCh38: 13:51946480-51946480
46 ATP7B NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) SNV Pathogenic 633071 rs1449610384 GRCh37: 13:52544640-52544640
GRCh38: 13:51970504-51970504
47 ATP7B NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) Indel Pathogenic 633073 rs1331370011 GRCh37: 13:52518403-52518405
GRCh38: 13:51944267-51944269
48 ATP7B NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) Deletion Pathogenic 633074 rs1566598496 GRCh37: 13:52548548-52548554
GRCh38: 13:51974412-51974418
49 ATP7B NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) SNV Pathogenic 633075 rs1566498495 GRCh37: 13:52523868-52523868
GRCh38: 13:51949732-51949732
50 ATP7B NM_000053.4(ATP7B):c.213_214del (p.Val73fs) Deletion Pathogenic 647773 rs1445951068 GRCh37: 13:52549142-52549143
GRCh38: 13:51975006-51975007

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

72 (show top 50) (show all 184)
# Symbol AA change Variation ID SNP ID
1 ATP7B p.Gly85Val VAR_000703 rs786204643
2 ATP7B p.Leu492Ser VAR_000710 rs156658025
3 ATP7B p.Met645Arg VAR_000714 rs121907998
4 ATP7B p.Gly691Arg VAR_000716 rs121908001
5 ATP7B p.Leu708Pro VAR_000717 rs121908000
6 ATP7B p.Gly710Arg VAR_000718
7 ATP7B p.Gly710Ser VAR_000719 rs137853285
8 ATP7B p.Gly711Glu VAR_000720
9 ATP7B p.Tyr713Cys VAR_000721 rs756883878
10 ATP7B p.Ile747Phe VAR_000723
11 ATP7B p.Asp765Asn VAR_000724 rs28942075
12 ATP7B p.Met769Val VAR_000725 rs193922103
13 ATP7B p.Arg778Gly VAR_000727 rs137853284
14 ATP7B p.Arg778Leu VAR_000728 rs28942074
15 ATP7B p.Arg778Gln VAR_000729 rs28942074
16 ATP7B p.Arg778Trp VAR_000730 rs137853284
17 ATP7B p.Pro840Leu VAR_000733 rs768671894
18 ATP7B p.Ile857Thr VAR_000734 rs105752023
19 ATP7B p.Gly869Arg VAR_000736 rs191312027
20 ATP7B p.Ala874Val VAR_000737 rs121907994
21 ATP7B p.Asp918Asn VAR_000738 rs540935874
22 ATP7B p.Arg919Gly VAR_000739 rs121907993
23 ATP7B p.Arg919Trp VAR_000740 rs121907993
24 ATP7B p.Ser921Asn VAR_000741 rs123024128
25 ATP7B p.Thr935Met VAR_000743 rs750019452
26 ATP7B p.Gly943Asp VAR_000744 rs779323689
27 ATP7B p.Gly943Ser VAR_000745 rs28942076
28 ATP7B p.Arg969Gln VAR_000747 rs121907996
29 ATP7B p.Thr977Met VAR_000748 rs72552255
30 ATP7B p.Pro992Leu VAR_000749 rs201038679
31 ATP7B p.Ala1003Thr VAR_000751 rs201497300
32 ATP7B p.Ala1018Val VAR_000752 rs371840514
33 ATP7B p.Gly1035Val VAR_000753 rs753594031
34 ATP7B p.Leu1043Pro VAR_000755 rs141202550
35 ATP7B p.Glu1064Ala VAR_000756 rs374094065
36 ATP7B p.Glu1064Lys VAR_000757 rs376910645
37 ATP7B p.His1069Gln VAR_000758 rs76151636
38 ATP7B p.Leu1083Phe VAR_000759 rs128608017
39 ATP7B p.Gly1089Glu VAR_000760 rs155528591
40 ATP7B p.Gly1089Val VAR_000761
41 ATP7B p.Gly1101Arg VAR_000762 rs786204483
42 ATP7B p.Ile1102Thr VAR_000763 rs560952220
43 ATP7B p.Gln1142His VAR_000766 rs778749563
44 ATP7B p.Val1146Met VAR_000767 rs121348114
45 ATP7B p.Ile1148Thr VAR_000768 rs60431989
46 ATP7B p.Trp1153Cys VAR_000769 rs133062011
47 ATP7B p.Met1169Val VAR_000770 rs749085322
48 ATP7B p.Ala1183Gly VAR_000771 rs587783315
49 ATP7B p.Gly1186Cys VAR_000773
50 ATP7B p.Gly1213Val VAR_000775 rs155528458

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 9.86 TNF SOD1 LOX HFE GPT DBH
2 membrane raft GO:0045121 9.46 TNF PRNP NPC1 ATP7A
3 cytoplasmic vesicle GO:0031410 9.43 SOD1 HFE ESD DBH COMMD1 ATP7B
4 recycling endosome GO:0055037 8.92 TNF SLC31A1 HFE COMMD1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.95 SLC31A1 HFE CP ATP7B ATP7A ATOX1
2 female pregnancy GO:0007565 9.73 PNOC HFE ATP7A
3 locomotory behavior GO:0007626 9.72 SOD1 DBH ATP7A
4 cellular iron ion homeostasis GO:0006879 9.7 SOD1 HFE CP
5 metal ion transport GO:0030001 9.62 CCS ATP7B ATP7A ATOX1
6 removal of superoxide radicals GO:0019430 9.58 SOD1 CCS ATP7A
7 inorganic cation transmembrane transport GO:0098662 9.57 ATP7B ATP7A
8 elastic fiber assembly GO:0048251 9.54 LOX ATP7A
9 copper ion import GO:0015677 9.54 SLC31A1 ATP7B ATP7A
10 cellular response to iron ion GO:0071281 9.51 HFE ATP7A
11 positive regulation of oxidoreductase activity GO:0051353 9.49 CCS ATP7A
12 divalent inorganic cation transport GO:0072511 9.46 ATP7B ATP7A
13 response to copper ion GO:0046688 9.46 SOD1 PRNP ATP7B ATP7A
14 copper ion transmembrane transport GO:0035434 9.43 SLC31A1 ATP7B
15 copper ion export GO:0060003 9.43 ATP7B ATP7A ATOX1
16 copper ion transport GO:0006825 9.35 SLC31A1 CP ATP7B ATP7A ATOX1
17 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 chaperone binding GO:0051087 9.56 SOD1 PRNP CP ATP7A
2 cation-transporting ATPase activity GO:0019829 9.43 ATP7B ATP7A
3 cuprous ion binding GO:1903136 9.4 PRNP ATP7A
4 superoxide dismutase activity GO:0004784 9.37 SOD1 CCS
5 copper-dependent protein binding GO:0032767 9.32 ATP7A ATOX1
6 copper ion binding GO:0005507 9.32 SOD1 PRNP LOX DBH CP COMMD1
7 copper-transporting ATPase activity GO:0043682 9.16 ATP7B ATP7A
8 copper ion transmembrane transporter activity GO:0005375 9.13 SLC31A1 ATP7B ATP7A

Sources for Wilson Disease

3 CDC
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11 DGIdb
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30 HMDB
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32 ICD10
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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