Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.



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Narrow down the case reports



Total: 186 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
117
(5.0%)
1307486
[Zinc in the treatment of hepatolenticular degeneration: report of 3 cases].
Barbosa ER, Burdmann Ede A, Cancado ER, Haddad MS, Scaff M, Canelas HM.
Arq Neuropsiquiatr. 1992;50(1):99-103.
Tremor
Adult Females Hepatolenticular Degeneration Homo sapiens Male Middle Aged Sulfates, Inorganic
117
(5.0%)
1023089
Wilson's disease (hepatolenticular degeneration).
Herron BE.
Ophthalmic Semin. 1976;1(1):63-9.
Cataract
CP
Adult Cataract Ceruloplasmin Females Hepatolenticular Degeneration Homo sapiens Male Pigments, Biological
117
(5.0%)
494648
[Proliferative diabetic retinopathy for over twenty years without glomerulosclerosis (author's transl)].
Fischer F.
Wien Klin Wochenschr. 1979;91(16):550-2.
Glomerular sclerosis
Blindness Diabetes Mellitus, Insulin-Dependent Diabetic Nephropathy Diabetic Retinopathy Females Homo sapiens Male Proteinuria
117
(5.0%)
477692
Oral zinc sulphate as long-term treatment in Wilson's disease (hepatolenticular degeneration).
Hoogenraad TU, Koevoet R, de Ruyter Korver EG.
Eur Neurol. 1979;18(3):205-11.
Kayser-Fleischer ring
CP
Administration, Oral Adult Ceruloplasmin Drug Evaluation Hepatolenticular Degeneration Homo sapiens Male Time Factors
117
(5.0%)
384982
Disappearance of Kayser-Fleischer rings after liver transplantation.
Schoenberger M, Ellis PP.
Arch Ophthalmol. 1979;97(10):1914-5.
Kayser-Fleischer ring
Corneal Diseases Follow-Up Studies Hepatolenticular Degeneration Homo sapiens Male Pigmentation Disorders Transplantation, Homologous
117
(5.0%)
47714
Kayser-Fleischer ring and associated cataract in Wilson's disease.
Tso MO, Fine BS, Thorpe HE.
Am J Ophthalmol. 1975;79(3):479-88.
Cataract
Adult Autopsy Cataract Cornea Electron Microscopy Females Hepatolenticular Degeneration Histocytochemistry Homo sapiens Lens, Crystalline Pigmentation Staining and Labeling Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 33

HPO ID Term Frequency
HP:0000140 Abnormality of the menstrual cycle Very frequent (99-80%)
HP:0000716 Depressivity Very frequent (99-80%)
HP:0000718 Aggressive behavior Very frequent (99-80%)
HP:0000952 Jaundice Very frequent (99-80%)
HP:0000978 Bruising susceptibility Very frequent (99-80%)
HP:0000989 Pruritus Very frequent (99-80%)
HP:0001155 Abnormality of the hand Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001260 Dysarthria Very frequent (99-80%)
HP:0001369 Arthritis Very frequent (99-80%)
HP:0001386 Joint swelling Very frequent (99-80%)
HP:0001394 Cirrhosis Very frequent (99-80%)
HP:0001397 Hepatic steatosis Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001824 Weight loss Very frequent (99-80%)
HP:0001873 Thrombocytopenia Very frequent (99-80%)
HP:0001903 Anemia Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002312 Clumsiness Very frequent (99-80%)
HP:0002355 Difficulty walking Very frequent (99-80%)
HP:0002653 Bone pain Very frequent (99-80%)
HP:0002756 Pathologic fracture Very frequent (99-80%)
HP:0002829 Arthralgia Very frequent (99-80%)
HP:0002910 Elevated hepatic transaminase Very frequent (99-80%)
HP:0003418 Back pain Very frequent (99-80%)
HP:0004324 Increased body weight Very frequent (99-80%)
HP:0006554 Acute hepatic failure Very frequent (99-80%)
HP:0008994 Proximal muscle weakness in lower limbs Very frequent (99-80%)
HP:0012115 Hepatitis Very frequent (99-80%)
HP:0030214 Hypersexuality Very frequent (99-80%)
HP:0200032 Kayser-Fleischer ring Very frequent (99-80%)
HP:0200119 Acute hepatitis Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 83

HPO ID Term # of case reports
HP:0001394 Cirrhosis 11
HP:0200032 Kayser-Fleischer ring 9
HP:0001878 Hemolytic anemia 6
HP:0001873 Thrombocytopenia 4
HP:0001260 Dysarthria 3
HP:0001337 Tremor 3
HP:0001396 Cholestasis 3
HP:0012115 Hepatitis 3
HP:0000096 Glomerulosclerosis 2
HP:0000099 Glomerulonephritis 2
HP:0000952 Jaundice 2
HP:0001250 Seizures 2
HP:0001251 Ataxia 2
HP:0001271 Polyneuropathy 2
HP:0001332 Dystonia 2
HP:0001399 Hepatic failure 2
HP:0002027 Abdominal pain 2
HP:0002480 Hepatic encephalopathy 2
HP:0003040 Arthropathy 2
HP:0000093 Proteinuria 1
HP:0000121 Nephrocalcinosis 1
HP:0000123 Nephritis 1
HP:0000135 Hypogonadism 1
HP:0000347 Micrognathia 1
HP:0000488 Retinopathy 1
HP:0000518 Cataract 1
HP:0000739 Anxiety 1
HP:0000787 Nephrolithiasis 1
HP:0000819 Diabetes mellitus 1
HP:0000824 Growth hormone deficiency 1
HP:0000956 Acanthosis nigricans 1
HP:0001289 Confusion 1
HP:0001300 Parkinsonism 1
HP:0001304 Torsion dystonia 1
HP:0001347 Hyperreflexia 1
HP:0001370 Rheumatoid arthritis 1
HP:0001733 Pancreatitis 1
HP:0001903 Anemia 1
HP:0001909 Leukemia 1
HP:0001942 Metabolic acidosis 1
HP:0001945 Fever 1
HP:0002013 Vomiting 1
HP:0002015 Dysphagia 1
HP:0002094 Dyspnea 1
HP:0002105 Hemoptysis 1
HP:0002113 Pulmonary infiltrates 1
HP:0002150 Hypercalciuria 1
HP:0002315 Headache 1
HP:0002344 Progressive neurologic deterioration 1
HP:0002362 Shuffling gait 1
HP:0002389 Cavum septum pellucidum 1
HP:0002583 Colitis 1
HP:0002612 Congenital hepatic fibrosis 1
HP:0002758 Osteoarthritis 1
HP:0002942 Thoracic kyphosis 1
HP:0002960 Autoimmunity 1
HP:0003088 Premature osteoarthritis 1
HP:0003124 Hypercholesterolemia 1
HP:0003201 Rhabdomyolysis 1
HP:0004373 Focal dystonia 1
HP:0005912 Biliary atresia 1
HP:0006562 Viral hepatitis 1
HP:0006577 Macronodular cirrhosis 1
HP:0007018 Attention deficit hyperactivity disorder 1
HP:0008303 Olivary degeneration 1
HP:0011273 Anisocytosis 1
HP:0011974 Myelofibrosis 1
HP:0012393 Allergy 1
HP:0012532 Chronic pain 1
HP:0030151 Cholangitis 1
HP:0031289 White papule 1
HP:0031364 Ecchymosis 1
HP:0031843 Bradyphrenia 1
HP:0032005 Hemidystonia 1
HP:0040223 Pulmonary hemorrhage 1
HP:0100026 Arteriovenous malformation 1
HP:0100543 Cognitive impairment 1
HP:0100626 Chronic hepatic failure 1
HP:0100660 Dyskinesia 1
HP:0100753 Schizophrenia 1
HP:0100785 Insomnia 1
HP:0200034 Papule 1
HP:0200119 Acute hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ATP7B ATPase copper transporting beta 540