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 74 25 20 43 53 58 73 36 29 13 54 6 42 15 37
Hepatolenticular Degeneration 57 12 25 20 58 73 44 71
Wilson's Disease 12 74 43 15 39
Wd 57 20 43 73
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 05-Mar-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 liver disease and disorder of copper metabolism, 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 Trientine 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 05-Mar-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 : 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 568)
# Related Disease Score Top Affiliating Genes
1 liver disease 32.0 PNPLA3 HFE GPT CP ATP7B
2 disorder of copper metabolism 31.8 ATP7B ATP7A
3 liver cirrhosis 31.0 PNPLA3 HFE GPT CP ATP7B
4 hemosiderosis 30.6 HFE GPT CP
5 hemochromatosis, type 1 30.6 SOD1 HFE GPT CP ATP7B
6 aceruloplasminemia 30.5 SOD1 NPC1 HFE CP ATP7B ATP7A
7 siderosis 30.4 HFE GPT CP
8 esophageal varix 30.4 GPT CP
9 non-alcoholic steatohepatitis 30.4 PNPLA3 HFE GPT
10 occipital horn syndrome 30.2 LOX DBH CP ATP7B ATP7A ATOX1
11 menkes disease 30.2 SOD1 SLC31A1 LOX DNAH8 DBH CP
12 deficiency anemia 30.2 SOD1 SLC31A1 HFE CP ATP7A ATOX1
13 inherited metabolic disorder 30.1 PNPLA3 NPC1 HFE GPT CP ATP7B
14 viral hepatitis 30.0 PNPLA3 HFE GPT CP
15 striatonigral degeneration, infantile 11.0
16 dystonia 11, myoclonic 11.0
17 autosomal recessive disease 10.9
18 acute liver failure 10.7
19 tremor 10.6
20 dystonia 10.5
21 hemolytic anemia 10.4
22 meningitis and encephalitis 10.4 SOD1 CP
23 paraquat poisoning 10.4 SOD1 GPT
24 non-alcoholic fatty liver disease 10.4
25 hydrops of gallbladder 10.4 GPT CP
26 dopamine beta-hydroxylase deficiency 10.4 DBH ATP7A ATOX1
27 eales disease 10.3 SOD1 CP
28 encephalopathy 10.3
29 torsion dystonia 2 10.3 PRNP CP
30 movement disease 10.3
31 torsion dystonia 4 10.3 PRNP CP
32 pick disease of brain 10.3 SOD1 PRNP NPC1 ATP7A
33 bladder diverticulum 10.3 LOX DBH CP ATP7A
34 spinal muscular atrophy, distal, x-linked 3 10.3 DBH CP ATP7B ATP7A ATOX1
35 hepatic encephalopathy 10.3
36 splenomegaly 10.3
37 ataxia and polyneuropathy, adult-onset 10.2
38 portal hypertension 10.2
39 hepatic coma 10.2
40 cholestasis 10.2
41 thrombocytopenia 10.2
42 lipid storage disease 10.2 PNPLA3 NPC1 GPT
43 chorea, childhood-onset, with psychomotor retardation 10.2
44 parkinsonism 10.2
45 choreatic disease 10.2
46 dystonia 25 10.2 PRNP CP
47 systemic lupus erythematosus 10.2
48 hepatitis a 10.2
49 status epilepticus 10.2
50 neutropenia 10.2

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 05-Mar-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 05-Mar-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

MGI Mouse Phenotypes related to Wilson Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ALG11 ATOX1 ATP7A ATP7B CP DBH
2 homeostasis/metabolism MP:0005376 10.24 ATOX1 ATP7A ATP7B CCS COMMD1 CP
3 cardiovascular system MP:0005385 10.14 ATOX1 ATP7A COMMD1 CP DBH ESD
4 integument MP:0010771 10.02 ATOX1 ATP7A ATP7B DBH LOX NPC1
5 mortality/aging MP:0010768 9.97 ALG11 ATOX1 ATP7A ATP7B COMMD1 DBH
6 liver/biliary system MP:0005370 9.96 ATOX1 ATP7A ATP7B COMMD1 CP HFE
7 nervous system MP:0003631 9.7 ATOX1 ATP7A ATP7B COMMD1 CP DBH
8 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 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillamine Approved Phase 4 52-67-5 5852 4727
2 Trientine Phase 4
3
Zinc Approved, Investigational Phase 3 7440-66-6 32051
4 Protective Agents Phase 3
5 Antidotes Phase 3
6
Molybdenum Approved Phase 2 7439-98-7 185498
7
Copper Approved, Investigational Phase 2 7440-50-8 27099
8
Choline Approved, Nutraceutical Phase 2 62-49-7 305
9
Tetrathiomolybdate Investigational Phase 2 16330-92-0
10 Liver Extracts Phase 1, Phase 2
11 Chelating Agents Phase 2
12 Copper Supplement Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Gastrointestinal Agents Phase 2
15 Lipid Regulating Agents Phase 2
16 Hypolipidemic Agents Phase 2
17 Antimetabolites Phase 2
18
Disulfiram Approved Phase 1 97-77-8 3117
19
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
20
Bupropion Approved Phase 1 34911-55-2, 34841-39-9 444
21
Celecoxib Approved, Investigational Phase 1 169590-42-5 2662
22 Nutrients Phase 1
23 Trace Elements Phase 1
24 Micronutrients Phase 1
25 Antirheumatic Agents Phase 1
26 Dopamine Agents Phase 1
27 Cytochrome P-450 Enzyme Inhibitors Phase 1
28 Antidepressive Agents Phase 1
29 Dopamine Uptake Inhibitors Phase 1
30 Psychotropic Drugs Phase 1
31 Neurotransmitter Agents Phase 1
32 Anti-Inflammatory Agents Phase 1
33 Analgesics, Non-Narcotic Phase 1
34 Anti-Inflammatory Agents, Non-Steroidal Phase 1
35 Cyclooxygenase Inhibitors Phase 1
36 Analgesics Phase 1
37 Cyclooxygenase 2 Inhibitors Phase 1
38
Succimer Approved Early Phase 1 304-55-2 9354
39
Ethanol Approved 64-17-5 702
40
Lidocaine Approved, Vet_approved 137-58-6 3676
41
Formaldehyde Approved, Vet_approved 50-00-0 712
42
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
43
Bilirubin 635-65-4 5280352
44 Antibiotics, Antitubercular
45 Anesthetics
46 Pharmaceutical Solutions
47 Retinol palmitate
48 Anti-Bacterial Agents
49 retinol
50 Anesthetics, Local

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, Open-label Study to Assess Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840 Recruiting NCT04573309 Phase 2 ALXN1840
10 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
11 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
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 CYP2B6 Substrate in Healthy Participants Enrolling by invitation NCT04526210 Phase 1 ALXN1840;Bupropion Hydrochloride
15 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. Enrolling by invitation NCT04526197 Phase 1 ALXN1840;Celecoxib
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 Study of Writing Improvement in Patients With Wilson Disease and Dystonia After One Session of Inhibitory Repetitive Transcranial Magnetic Stimulation Unknown status NCT01980433
18 A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease Unknown status NCT03659331
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 Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease Completed NCT01472874 Once a day Trientine
23 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Wilson Disease Completed NCT03867526
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 A Registered Cohort Study on Wilson's Disease Recruiting NCT04012658
27 Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement Recruiting NCT04212195
28 The Individual Therapy for Patients With Wilson's Disease Recruiting NCT03957720 Early Phase 1 DMPS;Penicillamine;DMSA;Zinc gluconate
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 71 / 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, Kidney, Skin
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 2476)
# Title Authors PMID Year
1
The Wilson disease gene: spectrum of mutations and their consequences. 54 61 57 6 25
7626145 1995
2
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 25 6 57 61
10502776 1999
3
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. 61 25 6 57
8298639 1993
4
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. 61 57 6 54
17587212 2007
5
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 54 57 6 61
17717039 2007
6
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. 6 57 61 54
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 57 6
15952988 2005
8
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). 25 6 61 54
15523622 2004
9
Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. 54 6 25 61
14616767 2003
10
Two families with Wilson disease in which siblings showed different phenotypes. 57 6 61
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 57 6
11093740 2000
12
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 6 54 57
10790207 2000
13
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 61 57 6
9671269 1998
14
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 61 57 6
8533760 1995
15
Wilson disease in Iceland: a clinical and genetic study. 61 6 57
7726170 1995
16
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. 61 54 25 57
8298641 1993
17
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 6 57
21796144 2011
18
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. 6 57
19419418 2009
19
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
20
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 57 25
12633149 2003
21
Severe hepatic Wilson's disease in preschool-aged children. 25 54 6
11060541 2000
22
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 61 6 25
9311736 1997
23
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 54 6 61
18371106 2008
24
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. 6 54 61
18483695 2008
25
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. 54 61 57
16791614 2006
26
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. 25 6
14986826 2003
27
Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. 25 57
11806854 2001
28
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. 61 57 54
10942420 2000
29
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. 54 61 6
10721669 2000
30
Haplotype and mutation analysis in Greek patients with Wilson disease. 6 61 54
9801873 1998
31
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 6 54 61
9482578 1998
32
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. 57 54 61
7951327 1994
33
Haplotype studies in Wilson disease. 57 61 54
8279472 1994
34
Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease. 61 54 57
8432554 1993
35
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. 61 57
32248359 2020
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. 25 61 54
18416466 2008
38
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 61 57
18034201 2008
39
Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide. 61 57
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. 61 57
16606763 2006
41
Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels. 25 61 54
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. 61 54 25
16222684 2005
43
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. 61 6
16207219 2005
44
Wilson disease with an initial manifestation of polyneuropathy. 57 61
16216950 2005
45
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 61 57
16133174 2005
46
Wilson disease: high prevalence in a mountainous area of Crete. 6 61
15845031 2005
47
Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. 61 6
15557537 2004
48
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. 61 54 25
15519648 2004
49
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. 61 54 25
14966923 2004
50
Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease. 61 57
12756138 2003

Variations for Wilson Disease

ClinVar genetic disease variations for Wilson Disease:

6 (show top 50) (show all 801)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP7B NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) SNV Pathogenic 3852 rs28942074 13:52532469-52532469 13:51958333-51958333
2 ATP7B ATP7B, 15-BP DEL, NT-441 Deletion Pathogenic 3853
3 ATP7B ATP7B, 3-BP DEL, 3892GTC Deletion Pathogenic 3854
4 ATP7B NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) SNV Pathogenic 3855 rs28942075 13:52532509-52532509 13:51958373-51958373
5 ATP7B NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) SNV Pathogenic 3856 rs28942076 13:52523836-52523836 13:51949700-51949700
6 ATP7B ATP7B, 1-BP DEL, 2511A Deletion Pathogenic 3858
7 ATP7B NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) SNV Pathogenic 3861 rs121907997 13:52532505-52532505 13:51958369-51958369
8 ATP7B NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) SNV Pathogenic 3864 rs121907999 13:52548491-52548491 13:51974355-51974355
9 ATP7B ATP7B, 7-BP DEL, NT2010 Deletion Pathogenic 3843
10 ATP7B ATP7B, 1-BP DEL, 2337C Deletion Pathogenic 3846
11 ATP7B ATP7B, 1-BP INS, NT2487 Insertion Pathogenic 3847
12 ATP7B NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) SNV Pathogenic 157943 rs587783307 13:52520469-52520469 13:51946333-51946333
13 ATP7B NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) SNV Pathogenic 157955 rs587783317 13:52511412-52511412 13:51937276-51937276
14 ATP7B NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) Deletion Pathogenic 88958 rs137853281 13:52516532-52516532 13:51942396-51942396
15 ATP7B NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) Deletion Pathogenic 188862 rs779904655 13:52534390-52534396 13:51960254-51960260
16 ATP7B NM_000053.4(ATP7B):c.2532del (p.Val845fs) Deletion Pathogenic 188883 rs755709270 13:52524451-52524451 13:51950315-51950315
17 ATP7B NM_000053.4(ATP7B):c.383del (p.Gly128fs) Deletion Pathogenic 208563 rs797045083 13:52548973-52548973 13:51974837-51974837
18 ATP7B NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) Duplication Pathogenic 210483 rs768729972 13:52532636-52532637 13:51958500-51958501
19 ATP7B NM_000053.3(ATP7B):c.-441_-427del15 Deletion Pathogenic 252913 rs879255499 13:52585898-52585912 13:52011762-52011776
20 ATP7B NM_000053.4(ATP7B):c.51+4A>T SNV Pathogenic 312401 rs369488210 13:52585419-52585419 13:52011283-52011283
21 ATP7B NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) Microsatellite Pathogenic 371438 rs771603301 13:52509760-52509761 13:51935624-51935625
22 ATP7B NM_000053.4(ATP7B):c.3904-2A>G SNV Pathogenic 371387 rs1057517233 13:52511531-52511531 13:51937395-51937395
23 ATP7B NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) SNV Pathogenic 371170 rs755584106 13:52509739-52509739 13:51935603-51935603
24 ATP7B NM_000053.4(ATP7B):c.1708-1G>A SNV Pathogenic 370195 rs137853280 13:52539170-52539170 13:51965034-51965034
25 ATP7B NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) SNV Pathogenic 424618 rs1064797072 13:52518252-52518252 13:51944116-51944116
26 ATP7B NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) SNV Pathogenic 225299 rs1085307057 13:52532653-52532653 13:51958517-51958517
27 ATP7B NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) SNV Pathogenic 430725 rs560952220 13:52516629-52516629 13:51942493-51942493
28 ATP7B NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) SNV Pathogenic 456556 rs1555285891 13:52516650-52516650 13:51942514-51942514
29 ATP7B NC_000013.11:g.(?_51973915)_(51975188_?)del Deletion Pathogenic 456550 13:51973915-51975188
30 ATP7B NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) SNV Pathogenic 495405 rs1394999756 13:52532671-52532671 13:51958535-51958535
31 ATP7B NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) Deletion Pathogenic 523941 rs1176709391 13:52548205-52548211 13:51974069-51974075
32 ATP7B NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) Indel Pathogenic 526654 rs1555288808 13:52524504-52524505 13:51950368-51950369
33 ATP7B NM_000053.4(ATP7B):c.2304del (p.Met769fs) Deletion Pathogenic 88957 rs137853287 13:52532498-52532498 13:51958362-51958362
34 ATP7B NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) Deletion Pathogenic 551108 rs762031690 13:52518341-52518341 13:51944205-51944205
35 ATP7B NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) SNV Pathogenic 552606 rs752850609 13:52539030-52539030 13:51964894-51964894
36 ATP7B NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) SNV Pathogenic 552915 rs1555283994 13:52511793-52511793 13:51937657-51937657
37 ATP7B NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) Deletion Pathogenic 552929 rs1555283564 13:52511427-52511427 13:51937291-51937291
38 ATP7B NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) SNV Pathogenic 553388 rs761084829 13:52548362-52548362 13:51974226-51974226
39 ATP7B NM_000053.4(ATP7B):c.111dup (p.Ala38fs) Duplication Pathogenic 554880 rs1555296939 13:52549244-52549245 13:51975108-51975109
40 ATP7B NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) SNV Pathogenic 555174 rs751202110 13:52532657-52532657 13:51958521-51958521
41 ATP7B NM_000053.4(ATP7B):c.1708-25_1719del Deletion Pathogenic 573285 rs1566560096 13:52539158-52539194 13:51965022-51965058
42 ATP7B NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val) SNV Pathogenic 590805 rs1566532164 13:52532451-52532451 13:51958315-51958315
43 ATP7B NM_000053.4(ATP7B):c.1543+1G>T SNV Pathogenic 590806 rs1360279134 13:52544627-52544627 13:51970491-51970491
44 ATP7B NM_000053.4(ATP7B):c.2866-2A>G SNV Pathogenic 623292 rs1377418826 13:52520616-52520616 13:51946480-51946480
45 ATP7B NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) SNV Pathogenic 633071 rs1449610384 13:52544640-52544640 13:51970504-51970504
46 ATP7B NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) Indel Pathogenic 633073 rs1331370011 13:52518403-52518405 13:51944267-51944269
47 ATP7B NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) Deletion Pathogenic 633074 rs1566598496 13:52548548-52548554 13:51974412-51974418
48 ATP7B NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) SNV Pathogenic 633075 rs1566498495 13:52523868-52523868 13:51949732-51949732
49 ATP7B NM_000053.4(ATP7B):c.213_214del (p.Val73fs) Deletion Pathogenic 647773 rs1445951068 13:52549142-52549143 13:51975006-51975007
50 ATP7B NC_000013.11:g.(?_51944089)_(51946498_?)del Deletion Pathogenic 654667 13:52518225-52520634 13:51944089-51946498

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

73 (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 recycling endosome GO:0055037 9.13 SLC31A1 HFE COMMD1
2 cytoplasmic vesicle GO:0031410 9.1 SOD1 HFE ESD DBH COMMD1 ATP7B

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 9.95 SLC31A1 HFE CP ATP7B ATP7A ATOX1
2 response to oxidative stress GO:0006979 9.75 SOD1 PRNP ATOX1
3 female pregnancy GO:0007565 9.73 PNOC HFE ATP7A
4 locomotory behavior GO:0007626 9.72 SOD1 DBH ATP7A
5 cellular iron ion homeostasis GO:0006879 9.7 SOD1 HFE CP
6 metal ion transport GO:0030001 9.62 CCS ATP7B ATP7A ATOX1
7 muscle cell cellular homeostasis GO:0046716 9.59 SOD1 LOX
8 superoxide metabolic process GO:0006801 9.58 SOD1 CCS
9 removal of superoxide radicals GO:0019430 9.58 SOD1 CCS ATP7A
10 inorganic cation transmembrane transport GO:0098662 9.57 ATP7B ATP7A
11 elastic fiber assembly GO:0048251 9.54 LOX ATP7A
12 copper ion import GO:0015677 9.54 SLC31A1 ATP7B ATP7A
13 cellular response to iron ion GO:0071281 9.51 HFE ATP7A
14 positive regulation of oxidoreductase activity GO:0051353 9.49 CCS ATP7A
15 divalent inorganic cation transport GO:0072511 9.46 ATP7B ATP7A
16 response to copper ion GO:0046688 9.46 SOD1 PRNP ATP7B ATP7A
17 copper ion transmembrane transport GO:0035434 9.43 SLC31A1 ATP7B
18 copper ion export GO:0060003 9.43 ATP7B ATP7A ATOX1
19 copper ion transport GO:0006825 9.35 SLC31A1 CP ATP7B ATP7A ATOX1
20 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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