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%)		 11445646
 A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease.
Riley D, Wiznitzer M, Schwartz S, Zinn AB.
Neurology. 2001;57(1):141-3.
Cognitive impairment
Brain Child Chromosome Mapping Chromosomes, Human, Pair 13 Cognition Disorders Cytogenetic Analysis Gene Deletion Hepatolenticular Degeneration Homo sapiens Magnetic Resonance Imaging Male Mutation Retinal Neoplasms Retinoblastoma
117
(5.0%)		 10406672
 Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
Battisti C, Loudianos G, Rufa A, Dotti MT, Sangiorgi S, Dessi V, Lovicu M, Pirastu M, Federico A.
Am J Med Genet. 1999;85(2):175-8.
Ataxia
ARSA
rs137853285
Adult Brain Cerebellar Ataxia Cerebroside-Sulfatase Hepatolenticular Degeneration Homo sapiens Male Mutation Single-Stranded Conformational Polymorphism Tomography, Emission-Computed, Single-Photon
117
(5.0%)		 9565982
 [Schizophrenia-like symptoms in the Westphal-Strumpell variation of Wilson disease].
Muller J, Landgraf F, Trabert W.
Nervenarzt. 1998;69(3):264-8.
Ataxia
Adult Anti-Anxiety Agents Antipsychotic Agents Basal Ganglia Diseases Benzodiazepines Brain Diseases, Metabolic Combination Drug Therapy Dysarthria Hepatolenticular Degeneration Homo sapiens Magnetic Resonance Imaging Male Neurocognitive Disorders Schizophrenia Spinocerebellar Degeneration
117
(5.0%)		 9544415
 Liver transplantation for neuropsychiatric Wilson disease.
Kassam N, Witt N, Kneteman N, Bain VG.
Can J Gastroenterol. 1998;12(1):65-8.
Personality disorder
CP
Adult Ceruloplasmin Hepatolenticular Degeneration Homo sapiens Male Suicide
117
(5.0%)		 9483264
 Depression in hepatolenticular degeneration (Wilson's disease).
Walter G, Lyndon B.
Aust N Z J Psychiatry. 1997;31(6):880-2.
Insomnia
Adult Chelating Agents Combination Drug Therapy Comorbidity Follow-Up Studies Hepatolenticular Degeneration Homo sapiens Male Psychomotor Disorders Sleep Initiation and Maintenance Disorders Tricyclic Antidepressive Agents
117
(5.0%)		 9311362
 Penicillamine-related neurologic syndrome in a child affected by Wilson disease with hepatic presentation.
Porzio S, Iorio R, Vajro P, Pensati P, Vegnente A.
Arch Neurol. 1997;54(9):1166-8.
Progressive neurologic deterioration
Child Hepatolenticular Degeneration Homo sapiens Male Retreatments Syndrome
117
(5.0%)		 8780087
 Neurologic presentation of Wilson disease without Kayser-Fleischer rings.
Demirkiran M, Jankovic J, Lewis RA, Cox DW.
Neurology. 1996;46(4):1040-3.
Dysarthria
Adult Blood Cornea DNA Females Genetic Markers Hepatolenticular Degeneration Homo sapiens Neurologic Examination Neuropsychological Tests
117
(5.0%)		 7666402
 H714Q mutation in Wilson disease is associated with late, neurological presentation.
Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R.
J Med Genet. 1995;32(6):480-2.
Kayser-Fleischer ring
p|SUB|H|714|Q
Adenosine Triphosphatases Adult Age of Onset Base Sequence Cation Transport Proteins Child Copper-Transporting ATPases DNA Mutational Analysis Females Hepatolenticular Degeneration Homo sapiens Homozygote Male Molecular Sequence Data Mutation Polymerase Chain Reaction Single-Stranded Conformational Polymorphism
117
(5.0%)		 7649526
 Effect of growth hormone on IGF-I levels in a patient with growth hormone deficiency and Wilson disease.
Koch A, Dorr HG, Gerling S, Behrens R, Bohles HJ.
Horm Res. 1995;44(1):40-4.
Decreased response to growth hormone stimuation test
CP GH1 IGF1
Ceruloplasmin Child, Preschool Growth Hormone Hepatolenticular Degeneration Homo sapiens Insulin-Like Growth Factor I Liver Male Weight Gain
117
(5.0%)		 6846733
 Serial changes of cranial computerized tomographic findings in Wilson disease during D-penicillamine therapy.
Mizutani N, Maehara M, Negoro T, Watanabe K.
Brain Dev. 1983;5(1):48-52.
Kayser-Fleischer ring
Brain Child Females Hepatolenticular Degeneration Homo sapiens X-Ray Computed Tomography
        

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