WD
MCID: WLS001
MIFTS: 72

Wilson Disease (WD) malady

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

Aliases & Classifications for Wilson Disease

Aliases & Descriptions for Wilson Disease:

Name: Wilson Disease 54 38 12 71 23 50 24 25 51 56 66 13 52 41 14
Hepatolenticular Degeneration 12 23 50 24 56 66 42 69
Wilson's Disease 12 25 29 14
Wd 50 25 66
Hepatolenticular Degeneration Syndrome 25
Westphal-Strumpell Syndrome 12
Cerebral Pseudosclerosis 12
Westphal Pseudosclerosis 12
Copper Storage Disease 25
Wnd 50

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
wilson disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 277900
Disease Ontology 12 DOID:893
ICD10 33 E83.01
MeSH 42 D006527
NCIt 47 C84756
Orphanet 56 ORPHA905
MESH via Orphanet 43 D006527
UMLS via Orphanet 70 C0019202
ICD10 via Orphanet 34 E83.0
MedGen 40 C0019202
UMLS 69 C0019202

Summaries for Wilson Disease

NINDS : 51 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 suprabulbar paresis, congenital, and has symptoms including pruritus, arthralgia and back pain. An important gene associated with Wilson Disease is ATP7B (ATPase Copper Transporting Beta), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Platinum drug resistance. The drugs Simvastatin and Etanercept have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and brain, and related phenotypes are homeostasis/metabolism and liver/biliary system

NIH Rare Diseases : 50 wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. signs and symptoms of wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. it is caused by a mutation of the atp7b gene and is inherited in an autosomal recessive manner. although there is no cure for wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. last updated: 2/5/2015

UniProtKB/Swiss-Prot : 66 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.

MedlinePlus : 41 wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. you need a small amount of copper from food to stay healthy. too much copper is poisonous. normally, your liver releases extra copper into bile, a digestive fluid. with wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. this can cause damage to your brain, kidneys, and eyes. wilson disease is present at birth, but symptoms usually start between ages 5 and 35. it first attacks the liver, the central nervous system or both. the most characteristic sign is a rusty brown ring around the cornea of the eye. a physical exam and laboratory tests can diagnose it. treatment is with drugs to remove the extra copper from your body. you need to take medicine and follow a low-copper diet for the rest of your life. don't eat shellfish or liver, as these foods may contain high levels of copper. at the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. have your drinking water checked for copper content and don't take multivitamins that contain copper. with early detection and proper treatment, you can enjoy good health. nih: national institute of diabetes and digestive and kidney diseases

Genetics Home Reference : 25 Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.

OMIM : 54 Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper... (277900) more...

Wikipedia : 71 Wilson\'s disease is a genetic disorder in which copper builds up in the body. Symptoms are typically... 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 112)
id Related Disease Score Top Affiliating Genes
1 liver disease 11.1
2 suprabulbar paresis, congenital 11.0
3 warty dyskeratoma 10.9
4 wolman disease 10.8
5 hepatitis 10.2
6 extrahepatic bile duct leiomyoma 10.2 CP HFE
7 ectodermal dysplasia 1, hypohidrotic, x-linked 10.2 ATP7A LOX
8 dermatoleukodystrophy 10.1 HFE TF
9 ehlers-danlos syndrome, type viib 10.1 ATP7A ATP7B
10 hypersensitivity syndrome, carbamazepine-induced 10.1 ALB HFE
11 tmem216-related meckel syndrome 10.1 HFE TF
12 acute liver failure 10.1
13 neurological manifestations of pompe disease 10.1 ALB CAT CP
14 post-thrombotic syndrome 10.1 CP HFE TF
15 facial paresis, hereditary congenital, 1 10.1 CP HFE TF
16 harp syndrome 10.0 HFE TF
17 male genital organ stricture 10.0 ALB TF
18 posterior uveal melanoma 10.0 ATP7A ATP7B HFE TF
19 aminoaciduria 10.0
20 hair disease 10.0
21 nasu-hakola disease 10.0 ATP7B CP HFE TF
22 central nervous system leiomyoma 10.0 ALB CP TF
23 coronary artery dissection, spontaneous 10.0 ALB TF
24 spinal muscular atrophy, distal, x-linked 3 10.0 ATOX1 ATP7A ATP7B CP LOX
25 epileptic encephalopathy, early infantile, 13 9.9 CP TF
26 menkes disease 9.9
27 esophageal leukoplakia 9.9 ATP7A ATP7B CP HFE TF
28 rosacea 9.9 ALB CP GPT
29 isolated growth hormone deficiency 9.9 ALB CP GPT
30 lung cancer 9.9
31 bile duct cystadenocarcinoma 9.9 ALB GPT
32 hepatocellular carcinoma 9.9
33 noninfectious dermatoses of eyelid 9.8 ALB GPT HFE
34 alopecia 9.8 DRD2 GPT TF
35 sarcoma 9.8
36 female infertility of uterine origin 9.8 ALB GPT TF
37 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 9.8 ALB GPT TF
38 retinoblastoma 9.7
39 hemochromatosis 9.7
40 neuropathy 9.7
41 neuronal ceroid-lipofuscinoses 9.7 ALB CAT CP HFE TF
42 polycystic kidney disease 9.7
43 squamous cell carcinoma, head and neck 9.7
44 renal oncocytoma 9.7
45 tongue squamous cell carcinoma 9.7
46 colorectal cancer 9.7
47 hepatosplenic t-cell lymphoma 9.7
48 melioidosis 9.7
49 colorectal adenoma 9.7
50 bladder sarcoma 9.7 ALB CP GPT TF

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



Diseases related to Wilson Disease

Symptoms & Phenotypes for Wilson Disease

Symptoms by clinical synopsis from OMIM:

277900

Clinical features from OMIM:

277900

Human phenotypes related to Wilson Disease:

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 arthralgia 56 32 Very frequent (99-80%) HP:0002829
3 back pain 56 32 Very frequent (99-80%) HP:0003418
4 joint swelling 56 32 Very frequent (99-80%) HP:0001386
5 clumsiness 56 32 Very frequent (99-80%) HP:0002312
6 bone pain 56 32 Very frequent (99-80%) HP:0002653
7 depression 56 32 Very frequent (99-80%) HP:0000716
8 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
9 dysarthria 56 32 Very frequent (99-80%) HP:0001260
10 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
11 arthritis 56 32 Very frequent (99-80%) HP:0001369
12 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
13 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
14 anemia 56 32 Very frequent (99-80%) HP:0001903
15 weight loss 56 32 Very frequent (99-80%) HP:0001824
16 pathologic fracture 56 32 Very frequent (99-80%) HP:0002756
17 hepatic steatosis 56 32 Very frequent (99-80%) HP:0001397
18 elevated hepatic transaminases 56 32 Very frequent (99-80%) HP:0002910
19 cirrhosis 56 32 Very frequent (99-80%) HP:0001394
20 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
21 jaundice 56 32 Very frequent (99-80%) HP:0000952
22 abnormality of the menstrual cycle 56 32 Very frequent (99-80%) HP:0000140
23 aggressive behavior 56 32 Very frequent (99-80%) HP:0000718
24 bruising susceptibility 56 32 Very frequent (99-80%) HP:0000978
25 abnormality of the hand 56 32 Very frequent (99-80%) HP:0001155
26 difficulty walking 56 32 Very frequent (99-80%) HP:0002355
27 increased body weight 56 32 Very frequent (99-80%) HP:0004324
28 acute hepatic failure 56 32 Very frequent (99-80%) HP:0006554
29 proximal muscle weakness in lower limbs 56 32 Very frequent (99-80%) HP:0008994
30 hypersexuality 56 32 Very frequent (99-80%) HP:0030214
31 kayser-fleischer ring 56 32 Very frequent (99-80%) HP:0200032
32 acute hepatitis 56 32 Very frequent (99-80%) HP:0200119
33 tremor 32 HP:0001337
34 dystonia 32 HP:0001332
35 personality changes 32 HP:0000751
36 osteoarthritis 32 HP:0002758
37 dysphagia 32 HP:0002015
38 proteinuria 32 HP:0000093
39 renal tubular dysfunction 32 HP:0000124
40 aminoaciduria 32 HP:0003355
41 osteoporosis 32 HP:0000939
42 hepatitis 56 Very frequent (99-80%)
43 hemolytic anemia 32 HP:0001878
44 hypoparathyroidism 32 HP:0000829
45 hypercalciuria 32 HP:0002150
46 joint hypermobility 32 HP:0001382
47 dementia 32 HP:0000726
48 coma 32 HP:0001259
49 nephrolithiasis 32 HP:0000787
50 osteomalacia 32 HP:0002749

UMLS symptoms related to Wilson Disease:


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

MGI Mouse Phenotypes related to Wilson Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ALB ATOX1 ATP7A ATP7B CAT COMMD1
2 liver/biliary system MP:0005370 9.81 ALB ATOX1 ATP7A ATP7B COMMD1 CP
3 mortality/aging MP:0010768 9.7 ATOX1 ATP7A ATP7B CAT COMMD1 DRD2
4 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 615)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
2
Etanercept Approved, Investigational Phase 4 185243-69-0
3
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
4
Celecoxib Approved, Investigational Phase 4,Phase 3 169590-42-5 2662
5
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
6
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 22916-47-8 4189
7
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
8
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
9
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
10
Ibuprofen Approved Phase 4 15687-27-1 3672
11
Naproxen Approved, Vet_approved Phase 4,Phase 3 22204-53-1 1302 156391
12
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
13
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
14
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
15
Citalopram Approved Phase 4 59729-33-8 2771
16
Mianserin Approved Phase 4 24219-97-4 4184
17
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205
18
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
19
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
20
Pancrelipase Approved Phase 4,Phase 3,Phase 2 53608-75-6
21
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
22
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1
23
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
24
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
25
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
26
Penicillamine Approved Phase 4 52-67-5 5852 4727
27
Flunarizine Approved Phase 4 52468-60-7 941361
28
Sertraline Approved Phase 4 79617-96-2 68617
29
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
30
Enalaprilat Approved Phase 4 76420-72-9 6917719
31
Everolimus Approved Phase 4,Phase 3,Phase 2 159351-69-6 6442177
32
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
33
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
34
Insulin Detemir Approved Phase 4 169148-63-4 5311023
35
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2 128794-94-5 5281078
36
Mycophenolic acid Approved Phase 4,Phase 2 24280-93-1 446541
37
Tacrolimus Approved, Investigational Phase 4,Phase 2 104987-11-3 445643 439492
38
Rivaroxaban Approved Phase 4 366789-02-8
39
Warfarin Approved Phase 4 81-81-2 6691 54678486
40
Penicillin V Approved, Vet_approved Phase 4 87-08-1 6869
41 Piracetam Approved Phase 4 7491-74-9
42
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
43
Haloperidol Approved Phase 4,Phase 1 52-86-8 3559
44
Lorazepam Approved Phase 4,Phase 1 846-49-1 3958
45
Loxapine Approved Phase 4,Phase 1 1977-10-2 3964
46
Linagliptin Approved Phase 4 668270-12-0 10096344
47
Lactulose Approved Phase 4 4618-18-2 11333
48
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
49
Nitric Oxide Approved Phase 4 10102-43-9 145068
50
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606

Interventional clinical trials:

(show top 50) (show all 627)
id Name Status NCT ID Phase
1 Simvastatin in Chronic Obstructive Pulmonary Disease (COPD) Unknown status NCT00680641 Phase 4
2 Targeting Synovitis in Early Rheumatoid Arthritis Unknown status NCT00920478 Phase 4
3 Microvascular Reperfusion Utilizing Sonothrombolysis in Acute Myocardial Infarction (MRUSMI TRIAL) Unknown status NCT02170103 Phase 4
4 Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias Unknown status NCT01717469 Phase 4
5 Study of Zinc for Wilson Disease Completed NCT00004338 Phase 4
6 Determining the Effects of Risperdal Consta in Patients With Psychotic Disorders and Incomplete Adherence Completed NCT00215579 Phase 4
7 OptiVol® Care Pathway Completed NCT00847288 Phase 4
8 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
9 Dialysis Clinical Outcomes Revisited (DCOR) Trial Completed NCT00324571 Phase 4
10 Effects of Rivastigmine Patch on Activities of Daily Living and Cognition in Patients With Severe Dementia of the Alzheimer's Type (ACTION) (Study Protocol CENA713DUS44, NCT00948766) and a 24 Week Open-label Extension to Study CENA713DUS44 Completed NCT00948766 Phase 4
11 A Study of EGb 761® (Tanakan®) in Dementia of Alzheimer Type Onset in Patients Suffering From Memory Complaints Completed NCT00276510 Phase 4
12 Combining Medications to Enhance Depression Outcomes Completed NCT00590863 Phase 4
13 Trial of Endoscopy Bipolar and Argon of Chronic Rectal Bleeding From Radiation Telangiectasias Completed NCT00725244 Phase 4
14 Irritable Bowel Syndrome Evaluation and Treatment in Primary Care Completed NCT01641341 Phase 4
15 Prospective Two-Year Study to Assess Miconazole Nitrate Resistance in Neonates and Infants Completed NCT00702507 Phase 4
16 AQUACEL® Ag Dressing and Urgotul® Silver Dressing on Healing of Chronic Venous Leg Ulcers Completed NCT01084577 Phase 4
17 Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine Recruiting NCT02426905 Phase 4
18 Neurologic Signatures of Chronic Pain Disorders Recruiting NCT02747940 Phase 4
19 Treatment of Traumatic Brain Injury (TBI)-Related Attention Deficits in Children Recruiting NCT02712996 Phase 4
20 Immunologic Response to Secukinumab in Plaque Psoriasis Recruiting NCT02592018 Phase 4
21 International Study to Predict Optimised Treatment - in Depression Recruiting NCT00693849 Phase 4
22 A Comparison of Fractional Flow Reserve-Guided Percutaneous Coronary Intervention and Coronary Artery Bypass Graft Surgery in Patients With Multivessel Coronary Artery Disease Recruiting NCT02100722 Phase 4
23 Efficacy of Optison Echo Contrast to Detect Thrombus in Left Atrial Appendage Recruiting NCT01721447 Phase 4
24 Effect of DPP4 Inhibition on Vasoconstriction Recruiting NCT02639637 Phase 4
25 EVOLVE Short DAPT Study Recruiting NCT02605447 Phase 4
26 Multicentre, Non-controlled, Prospective, Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A Recruiting NCT01811875 Phase 4
27 A "Real World" Trial to Determine Efficacy and Health Outcomes of Toujeo (ACHIEVE CONTROL REAL LIFE STUDY PROGRAM) Recruiting NCT02451137 Phase 4
28 Vision Testing in Patients With Partial Seizures Receiving Either Lyrica or Placebo Recruiting NCT00351611 Phase 4
29 Renal Transplantation in the Elderly - nEverOld Study Recruiting NCT01631058 Phase 4
30 Post-Marketing Study Using PROLIEVE® for the Treatment of Benign Prostatic Hyperplasia (BPH) Recruiting NCT02021032 Phase 4
31 Comparative Effectiveness of Pulmonary Embolism Prevention After Hip and Knee Replacement Recruiting NCT02810704 Phase 4
32 Study of 5 and 10 Days Treatment With Penicillin Against Sore Throat Caused by Streptococci Recruiting NCT02712307 Phase 4
33 Seizure Prophylaxis in Aneurysm Repair Recruiting NCT01801072 Phase 4
34 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4
35 Cardiovascular and Renal Microvascular Outcome Study With Linagliptin in Patients With Type 2 Diabetes Mellitus (CARMELINA) Active, not recruiting NCT01897532 Phase 4
36 CPET in CF Patients With One G551D Mutation Taking VX770 Active, not recruiting NCT01937325 Phase 4
37 Peritoneal Dialysis Pilot Study: Evaluating Polyethylene Glycol (PEG) for Constipation Not yet recruiting NCT03148002 Phase 4
38 Effective Management of Emotional Response to Generate Well-Being Post-HF Exacerbation Not yet recruiting NCT03043261 Phase 4
39 ACTICOAT™ for the Treatment of Burns and Chronic Wounds Not yet recruiting NCT02852148 Phase 4
40 Inhaled Loxapine vs IM Haloperidol + Lorazepam for Agitation Not yet recruiting NCT03110900 Phase 4
41 Functional Brain Imaging and Employment in First-Episode Psychotic Patients Treated With Risperdal Terminated NCT00314613 Phase 4
42 NORDIC: Nitric Oxide-Derived Oxidants and Regional Endothelial and Diastolic Dysfunction in Dilated Cardiomyopathy Terminated NCT00293137 Phase 4
43 Clinical Evaluation of the Use of Sealed Capsule Irrigation With Sodium Chloride During Pediatric Cataract Surgery and IOL Implantation Withdrawn NCT00366613 Phase 4
44 Treatment With AKL1 in Obstructive Airways Disease (The TAKL Study) Unknown status NCT00920127 Phase 2, Phase 3
45 18F-fluorodeoxyglucose (18F-FDG) Positron Emission Tomography in Oncology Unknown status NCT00207298 Phase 3
46 Glaser Obesity Study Unknown status NCT00209482 Phase 2, Phase 3
47 Irinotecan With or Without Panitumumab or Cyclosporine in Treating Patients With Advanced or Metastatic Colorectal Cancer That Did Not Respond to Fluorouracil Unknown status NCT00389870 Phase 3
48 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, Phase 3
49 Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson's Disease in Japan. Completed NCT00212355 Phase 3
50 Study of Tetrathiomolybdate in Patients With Wilson Disease Completed NCT00004339 Phase 3

Search NIH Clinical Center for Wilson Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hepatolenticular degeneration

Genetic Tests for Wilson Disease

Genetic tests related to Wilson Disease:

id Genetic test Affiliating Genes
1 Wilson Disease 29 24 ATP7B

Anatomical Context for Wilson Disease

MalaCards organs/tissues related to Wilson Disease:

39
Liver, Brain, Eye, Testes, Kidney, Skin, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Wilson Disease:
id Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Wilson Disease

Articles related to Wilson Disease:

(show top 50) (show all 664)
id Title Authors Year
1
Wilson disease: symptomatic liver therapy. ( 28433104 )
2017
2
The genetics of Wilson disease. ( 28433102 )
2017
3
Wilson disease: brain pathology. ( 28433113 )
2017
4
A 6-year-old boy with Wilson disease-A diagnostic dilemma. ( 28435998 )
2017
5
Animal models of Wilson disease. ( 28433110 )
2017
6
Other organ involvement and clinical aspects of Wilson disease. ( 28433099 )
2017
7
Pontomesencephalic Atrophy and Postural Instability in Wilson Disease. ( 28495941 )
2017
8
Patient support groups in the management of Wilson disease. ( 28433107 )
2017
9
Wilson disease - currently used anticopper therapy. ( 28433101 )
2017
10
Epidemiology and introduction to the clinical presentation of Wilson disease. ( 28433111 )
2017
11
Wilson disease in children. ( 28433098 )
2017
12
Novel perspectives on Wilson disease treatment. ( 28433106 )
2017
13
Symptomatic treatment of neurologic symptoms in Wilson disease. ( 28433105 )
2017
14
Diagnosis of Wilson disease. ( 28433100 )
2017
15
Zinc monotherapy for young children with presymptomatic Wilson disease: a multicenter study in Japan. ( 28452067 )
2017
16
Wilson disease - liver pathology. ( 28433112 )
2017
17
Liver transplantation for Wilson disease. ( 28433103 )
2017
18
Pathogenesis of Wilson disease. ( 28433109 )
2017
19
Genetic and environmental modifiers of Wilson disease. ( 28433108 )
2017
20
Lipid and copper metabolism in humans with wilson disease: Enigmatic relationship. ( 27859441 )
2017
21
Hepatic features of Wilson disease. ( 28433114 )
2017
22
Advantages of Anterior Segment Optical Coherence Tomography Evaluation of the Kayser-Fleischer Ring in Wilson Disease. ( 28060027 )
2017
23
Neurological features and management of Wilson disease in children: an evaluation of 12 cases. ( 27103860 )
2016
24
Copper induces hepatocyte injury due to the endoplasmic reticulum stress in cultured cells and patients with Wilson disease. ( 27502587 )
2016
25
Rare diseases: Bacterial peptide reverses Wilson disease. ( 27469231 )
2016
26
Diffusion tensor imaging of the extracorticospinal network in the brains of patients with Wilson disease. ( 26944166 )
2016
27
Wilson Disease. ( 27495207 )
2016
28
The Clinical Utility of a Low Serum Ceruloplasmin Measurement in the Diagnosis of Wilson Disease. ( 26904791 )
2016
29
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. ( 26747866 )
2016
30
Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics. ( 27744583 )
2016
31
A microbial peptide to rescue severe and fulminant Wilson disease? ( 27743981 )
2016
32
Wilson Disease: epigenetic effects of choline supplementation on phenotype and clinical course in a mouse model. ( 27611852 )
2016
33
Methanobactin reverses acute liver failure in a rat model of Wilson disease. ( 27322060 )
2016
34
ATP7B Gene Mutations in Croatian Patients with Wilson Disease. ( 26799313 )
2016
35
Rapid and reliable diagnosis of Wilson disease using X-ray fluorescence. ( 27499926 )
2016
36
Pregnancy outcome after chelation therapy in Wilson disease. Evaluation of the German Embryotox Database. ( 27350316 )
2016
37
Spectrum of ATP7B mutations and genotype-phenotype correlation in a large-scale Chinese patients with Wilson Disease. ( 27982432 )
2016
38
MR imaging features of liver involvement by Wilson disease in adult patients. ( 27105862 )
2016
39
Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review. ( 27930511 )
2016
40
MR imaging features of focal liver lesions in Wilson disease. ( 27116011 )
2016
41
Management for acute liver failure of Wilson disease: Indication for liver transplantation. ( 27061913 )
2016
42
Phenotypic convergence of Menkes and Wilson disease. ( 27878136 )
2016
43
The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria. ( 27437191 )
2016
44
Liver: Novel therapeutic strategy for Wilson disease. ( 27407047 )
2016
45
Mutational analysis of ATP7B in Chinese Wilson disease patients. ( 27398169 )
2016
46
Aberrance of Serum Zinc and Free Copper Level in Wilson Disease. ( 26690865 )
2016
47
Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants. ( 26660341 )
2016
48
To the Editor: Wilson disease. ( 27281247 )
2016
49
Pyoderma Gangrenosum-A New Manifestation of Wilson Disease? ( 27194899 )
2016
50
Near-Infrared Upconversion Chemodosimeter for In Vivo Detection of Cu(2+) in Wilson Disease. ( 27185083 )
2016

Variations for Wilson Disease

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

66 (show top 50) (show all 195)
id Symbol AA change Variation ID SNP ID
1 ATP7B p.Gly85Val VAR_000703 rs786204643
2 ATP7B p.Leu492Ser VAR_000710
3 ATP7B p.Gly626Ala VAR_000712 rs587783299
4 ATP7B p.Asp642His VAR_000713 rs72552285
5 ATP7B p.Met645Arg VAR_000714 rs121907998
6 ATP7B p.Gly691Arg VAR_000716 rs121908001
7 ATP7B p.Leu708Pro VAR_000717 rs121908000
8 ATP7B p.Gly710Arg VAR_000718
9 ATP7B p.Gly710Ser VAR_000719 rs137853285
10 ATP7B p.Gly711Glu VAR_000720
11 ATP7B p.Tyr713Cys VAR_000721 rs756883878
12 ATP7B p.Ile747Phe VAR_000723
13 ATP7B p.Asp765Asn VAR_000724 rs28942075
14 ATP7B p.Met769Val VAR_000725 rs193922103
15 ATP7B p.Arg778Gly VAR_000727 rs137853284
16 ATP7B p.Arg778Leu VAR_000728 rs28942074
17 ATP7B p.Arg778Gln VAR_000729 rs28942074
18 ATP7B p.Arg778Trp VAR_000730 rs137853284
19 ATP7B p.Pro840Leu VAR_000733 rs768671894
20 ATP7B p.Ile857Thr VAR_000734
21 ATP7B p.Gly869Arg VAR_000736 rs191312027
22 ATP7B p.Ala874Val VAR_000737 rs121907994
23 ATP7B p.Asp918Asn VAR_000738 rs540935874
24 ATP7B p.Arg919Gly VAR_000739 rs121907993
25 ATP7B p.Arg919Trp VAR_000740 rs121907993
26 ATP7B p.Ser921Asn VAR_000741
27 ATP7B p.Thr935Met VAR_000743 rs750019452
28 ATP7B p.Gly943Asp VAR_000744 rs779323689
29 ATP7B p.Gly943Ser VAR_000745 rs28942076
30 ATP7B p.Arg969Gln VAR_000747 rs121907996
31 ATP7B p.Thr977Met VAR_000748 rs72552255
32 ATP7B p.Pro992Leu VAR_000749 rs201038679
33 ATP7B p.Ala1003Thr VAR_000751 rs201497300
34 ATP7B p.Ala1018Val VAR_000752 rs371840514
35 ATP7B p.Gly1035Val VAR_000753
36 ATP7B p.Leu1043Pro VAR_000755
37 ATP7B p.Glu1064Ala VAR_000756 rs374094065
38 ATP7B p.Glu1064Lys VAR_000757 rs376910645
39 ATP7B p.His1069Gln VAR_000758 rs76151636
40 ATP7B p.Leu1083Phe VAR_000759
41 ATP7B p.Gly1089Glu VAR_000760
42 ATP7B p.Gly1089Val VAR_000761
43 ATP7B p.Gly1101Arg VAR_000762 rs786204483
44 ATP7B p.Ile1102Thr VAR_000763 rs560952220
45 ATP7B p.Gln1142His VAR_000766 rs778749563
46 ATP7B p.Val1146Met VAR_000767
47 ATP7B p.Ile1148Thr VAR_000768 rs60431989
48 ATP7B p.Trp1153Cys VAR_000769
49 ATP7B p.Met1169Val VAR_000770 rs749085322
50 ATP7B p.Ala1183Gly VAR_000771 rs587783315

ClinVar genetic disease variations for Wilson Disease:

6 (show top 50) (show all 128)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP7B ATP7B, 7-BP DEL, NT2010 deletion Pathogenic
2 ATP7B ATP7B, 1-BP DEL, 2337C deletion Pathogenic
3 ATP7B ATP7B, 1-BP INS, NT2487 insertion Pathogenic
4 ATP7B NM_000053.3(ATP7B): c.3207C> A (p.His1069Gln) single nucleotide variant Pathogenic rs76151636 GRCh37 Chromosome 13, 52518281: 52518281
5 ATP7B NM_000053.3(ATP7B): c.3796G> A (p.Gly1266Arg) single nucleotide variant Pathogenic rs121907992 GRCh37 Chromosome 13, 52511719: 52511719
6 ATP7B NM_000053.3(ATP7B): c.1708-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs137853280 GRCh37 Chromosome 13, 52539170: 52539170
7 ATP7B NM_000053.3(ATP7B): c.2621C> T (p.Ala874Val) single nucleotide variant Pathogenic rs121907994 GRCh37 Chromosome 13, 52524252: 52524252
8 ATP7B NM_000053.3(ATP7B): c.2333G> T (p.Arg778Leu) single nucleotide variant Pathogenic rs28942074 GRCh37 Chromosome 13, 52532469: 52532469
9 ATP7B ATP7B, 15-BP DEL, NT-441 deletion Pathogenic
10 ATP7B ATP7B, 3-BP DEL, 3892GTC deletion Pathogenic
11 ATP7B NM_000053.3(ATP7B): c.2293G> A (p.Asp765Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942075 GRCh37 Chromosome 13, 52532509: 52532509
12 ATP7B NM_000053.3(ATP7B): c.2827G> A (p.Gly943Ser) single nucleotide variant Pathogenic rs28942076 GRCh37 Chromosome 13, 52523836: 52523836
13 ATP7B NM_000053.3(ATP7B): c.2755C> G (p.Arg919Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121907993 GRCh37 Chromosome 13, 52523908: 52523908
14 ATP7B ATP7B, 1-BP DEL, 2511A deletion Pathogenic
15 ATP7B NM_000053.3(ATP7B): c.3809A> G (p.Asn1270Ser) single nucleotide variant Pathogenic rs121907990 GRCh37 Chromosome 13, 52511706: 52511706
16 ATP7B NM_000053.3(ATP7B): c.2906G> A (p.Arg969Gln) single nucleotide variant Pathogenic rs121907996 GRCh37 Chromosome 13, 52520574: 52520574
17 ATP7B NM_000053.3(ATP7B): c.2297C> G (p.Thr766Arg) single nucleotide variant Pathogenic rs121907997 GRCh37 Chromosome 13, 52532505: 52532505
18 ATP7B NM_000053.3(ATP7B): c.1934T> G (p.Met645Arg) single nucleotide variant Pathogenic rs121907998 GRCh37 Chromosome 13, 52535985: 52535985
19 ATP7B NM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr) single nucleotide variant Pathogenic/Likely pathogenic rs60431989 GRCh37 Chromosome 13, 52515330: 52515330
20 ATP7B NM_000053.3(ATP7B): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121907999 GRCh37 Chromosome 13, 52548491: 52548491
21 ATP7B NM_000053.3(ATP7B): c.2123T> C (p.Leu708Pro) single nucleotide variant Pathogenic rs121908000 GRCh37 Chromosome 13, 52532679: 52532679
22 ATP7B NM_000053.3(ATP7B): c.2071G> A (p.Gly691Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908001 GRCh37 Chromosome 13, 52534334: 52534334
23 ATP7B NM_000053.3(ATP7B): c.2122-8T> G single nucleotide variant Pathogenic/Likely pathogenic rs193922102 GRCh38 Chromosome 13, 51958552: 51958552
24 ATP7B NM_000053.3(ATP7B): c.2930C> T (p.Thr977Met) single nucleotide variant Pathogenic rs72552255 GRCh37 Chromosome 13, 52520550: 52520550
25 ATP7B NM_000053.3(ATP7B): c.2953T> C (p.Cys985Arg) single nucleotide variant Likely pathogenic rs193922104 GRCh37 Chromosome 13, 52520527: 52520527
26 ATP7B NM_000053.3(ATP7B): c.3659C> T (p.Thr1220Met) single nucleotide variant Pathogenic/Likely pathogenic rs193922107 GRCh37 Chromosome 13, 52513227: 52513227
27 ATP7B NM_000053.3(ATP7B): c.3700G> T (p.Val1234Phe) single nucleotide variant Likely pathogenic rs193922108 GRCh37 Chromosome 13, 52511815: 52511815
28 ATP7B NM_000053.3(ATP7B): c.3955C> T (p.Arg1319Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922109 GRCh37 Chromosome 13, 52511478: 52511478
29 ATP7B NM_000053.3(ATP7B): c.4058G> A (p.Trp1353Ter) single nucleotide variant Likely pathogenic rs193922110 GRCh37 Chromosome 13, 52509795: 52509795
30 ATP7B NM_000053.3(ATP7B): c.845delT (p.Leu282Profs) deletion Pathogenic rs193922111 GRCh37 Chromosome 13, 52548511: 52548511
31 ATP7B NM_000053.3(ATP7B): c.3402delC (p.Ala1135Glnfs) deletion Pathogenic rs137853281 GRCh37 Chromosome 13, 52516532: 52516532
32 ATP7B NM_000053.3(ATP7B): c.915T> A (p.Cys305Ter) single nucleotide variant Pathogenic rs398123137 GRCh37 Chromosome 13, 52548441: 52548441
33 ATP7B NM_000053.3(ATP7B): c.2128G> A (p.Gly710Ser) single nucleotide variant Pathogenic rs137853285 GRCh38 Chromosome 13, 51958538: 51958538
34 ATP7B NM_000053.3(ATP7B): c.2332C> G (p.Arg778Gly) single nucleotide variant Likely pathogenic rs137853284 GRCh38 Chromosome 13, 51958334: 51958334
35 ATP7B NM_000053.3(ATP7B): c.2336G> A (p.Trp779Ter) single nucleotide variant Pathogenic rs137853283 GRCh38 Chromosome 13, 51958330: 51958330
36 ATP7B NM_000053.3(ATP7B): c.122A> G (p.Asn41Ser) single nucleotide variant Pathogenic/Likely pathogenic rs201738967 GRCh37 Chromosome 13, 52549234: 52549234
37 ATP7B NM_000053.3(ATP7B): c.1969A> C (p.Ser657Arg) single nucleotide variant Pathogenic rs372436901 GRCh37 Chromosome 13, 52534436: 52534436
38 ATP7B NM_000053.3(ATP7B): c.2605G> A (p.Gly869Arg) single nucleotide variant Pathogenic rs191312027 GRCh37 Chromosome 13, 52524268: 52524268
39 ATP7B NM_000053.3(ATP7B): c.2865+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587783306 GRCh37 Chromosome 13, 52523797: 52523797
40 ATP7B NM_000053.3(ATP7B): c.3011A> C (p.Gln1004Pro) single nucleotide variant Pathogenic rs587783307 GRCh37 Chromosome 13, 52520469: 52520469
41 ATP7B NM_000053.3(ATP7B): c.4021G> A (p.Gly1341Ser) single nucleotide variant Pathogenic rs587783317 GRCh37 Chromosome 13, 52511412: 52511412
42 ATP7B NM_000053.3(ATP7B): c.4039G> A (p.Gly1347Ser) single nucleotide variant Likely pathogenic rs587783318 GRCh38 Chromosome 13, 51935678: 51935678
43 ATP7B NM_000053.3(ATP7B): c.4088C> T (p.Ser1363Phe) single nucleotide variant Likely pathogenic rs776848753 GRCh38 Chromosome 13, 51935629: 51935629
44 ATP7B NM_000053.3(ATP7B): c.4051C> T (p.Gln1351Ter) single nucleotide variant Likely pathogenic rs786204578 GRCh38 Chromosome 13, 51935666: 51935666
45 ATP7B NM_000053.3(ATP7B): c.3895C> T (p.Leu1299Phe) single nucleotide variant Likely pathogenic rs749472361 GRCh37 Chromosome 13, 52511620: 52511620
46 ATP7B NM_000053.3(ATP7B): c.3818C> T (p.Pro1273Leu) single nucleotide variant Likely pathogenic rs758355520 GRCh38 Chromosome 13, 51937561: 51937561
47 ATP7B NM_000053.3(ATP7B): c.3649_3654delGTTCTG (p.Val1217_Leu1218del) deletion Likely pathogenic rs781266802 GRCh37 Chromosome 13, 52513232: 52513237
48 ATP7B NM_000053.3(ATP7B): c.3646G> A (p.Val1216Met) single nucleotide variant Likely pathogenic rs776280797 GRCh37 Chromosome 13, 52513240: 52513240
49 ATP7B NM_000053.3(ATP7B): c.3598C> T (p.Gln1200Ter) single nucleotide variant Likely pathogenic rs786204658 GRCh37 Chromosome 13, 52513288: 52513288
50 ATP7B NM_000053.3(ATP7B): c.3556+1G> A single nucleotide variant Likely pathogenic rs184388696 GRCh38 Chromosome 13, 51941080: 51941080

Expression for Wilson Disease

Search GEO for disease gene expression data for Wilson Disease.

Pathways for Wilson Disease

Pathways related to Wilson Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ALB ATP7A ATP7B CP SLC31A1 TF
2 11.36 ATP7A ATP7B SLC31A1
3
Show member pathways
11.17 ATOX1 ATP7A CAT
4 10.96 ATOX1 ATP7A SLC31A1 TF
5 10.79 ATP7A ATP7B SLC31A1
6 10.75 ATOX1 ATP7A ATP7B COMMD1 SLC31A1

GO Terms for Wilson Disease

Cellular components related to Wilson Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.87 ALB CAT CP GPT HFE LOX
2 endoplasmic reticulum lumen GO:0005788 9.67 ALB CP ESD TF
3 cytoplasmic vesicle GO:0031410 9.63 ATP7B COMMD1 DRD2 ESD HFE TF
4 basal part of cell GO:0045178 9.4 HFE TF
5 HFE-transferrin receptor complex GO:1990712 9.26 HFE TF
6 late endosome GO:0005770 9.26 ATP7A ATP7B SLC31A1 TF
7 recycling endosome GO:0055037 8.92 COMMD1 HFE SLC31A1 TF

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 ATOX1 ATP7A ATP7B CP HFE SLC31A1
2 post-translational protein modification GO:0043687 9.88 ALB COMMD1 CP TF
3 cellular iron ion homeostasis GO:0006879 9.69 CP HFE TF
4 metal ion transport GO:0030001 9.61 ATOX1 ATP7A ATP7B
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.59 ATP7A ATP7B
6 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
7 response to iron ion GO:0010039 9.57 DRD2 HFE
8 response to lead ion GO:0010288 9.56 ATP7A CAT
9 response to copper ion GO:0046688 9.55 ATP7A ATP7B
10 dopamine metabolic process GO:0042417 9.54 ATP7A DRD2
11 elastic fiber assembly GO:0048251 9.52 ATP7A LOX
12 copper ion import GO:0015677 9.5 ATP7A ATP7B SLC31A1
13 response to inactivity GO:0014854 9.49 CAT DRD2
14 intracellular copper ion transport GO:0015680 9.48 ATOX1 ATP7B
15 copper ion export GO:0060003 9.46 ATP7A ATP7B
16 cellular response to iron ion GO:0071281 9.43 ATP7A HFE TF
17 copper ion transmembrane transport GO:0035434 9.33 ATOX1 ATP7B SLC31A1
18 cellular copper ion homeostasis GO:0006878 9.26 ATOX1 ATP7A ATP7B SLC31A1
19 copper ion transport GO:0006825 9.02 ATOX1 ATP7A ATP7B CP SLC31A1
20 transport GO:0006810 10.06 ALB ATOX1 ATP7A ATP7B COMMD1 CP

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

id Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.58 ALB ATP7A CP
2 antioxidant activity GO:0016209 9.46 ALB CAT
3 transferrin receptor binding GO:1990459 9.37 HFE TF
4 cation-transporting ATPase activity GO:0019829 9.32 ATP7A ATP7B
5 copper-dependent protein binding GO:0032767 9.26 ATOX1 ATP7A
6 copper ion transmembrane transporter activity GO:0005375 9.26 ATOX1 ATP7A ATP7B SLC31A1
7 copper ion binding GO:0005507 9.17 ALB ATOX1 ATP7A ATP7B COMMD1 CP
8 copper-exporting ATPase activity GO:0004008 9.16 ATP7A ATP7B
9 metal ion binding GO:0046872 10.09 ALB ATOX1 ATP7A ATP7B CAT COMMD1

Sources for Wilson Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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