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)
20
(30.5%)		 10632312
 Hepatic decompensation in patients with cirrhosis during infection with influenza A.
Duchini A, Viernes ME, Nyberg LM, Hendry RM, Pockros PJ.
Arch Intern Med. 2000;160(1):113-5.
Cirrhosis Ascites Peripheral edema
CNOT8
Adult Ascites California Edema Females Hepatic Encephalopathy Homo sapiens Hospitalization Influenza Liver Cirrhosis Male Middle Aged Retrospective Studies
22
(27.5%)		 22800610
(3419090)
 Wilson disease in a Nigerian child: a case report.
Esezobor CI, Banjoko N, Rotimi-Samuel A, Lesi FE.
J Med Case Rep. 2012;6:200.
Proteinuria Ascites
23
(27.2%)		 27869428
 [Hemolytic anemia as the first clinical presentation of Wilson disease: a pediatric case].
Henao C JA, Valverde Munoz K, Avila A ML.
Arch Argent Pediatr. 2016;114(6):e436-e439.
Hemolytic anemia
CP
Anemia, Hemolytic Child Hepatolenticular Degeneration Homo sapiens Male
23
(27.2%)		 25130000
(4345718)
 Biochemical staging of the chronic hepatic lesions of Wilson disease.
Katano Y, Hayashi K, Hattori A, Tatsumi Y, Ueyama J, Wakusawa S, Yano M, Toyoda H, Kumada T, Mizutani N, Hayashi H, Goto H.
Nagoya J Med Sci. 2014;76(1-2):139-48.
Anemia
rs1555286628 rs753594031 rs770829226
Adenosine Triphosphatases Adult Alanine Transaminase Aspartate Transaminase Biological Markers Cation Transport Proteins Child Child, Preschool Copper-Transporting ATPases Females Genetic Predisposition to Disease Hepatolenticular Degeneration Homo sapiens Liver Function Tests Male Mutation Phenotype Predictive Value of Tests Severity of Illness Index Time Factors Young Adult
23
(27.2%)		 21757830
 Excess copper chelating therapy for Wilson disease induces anemia and liver dysfunction.
Harada M, Miyagawa K, Honma Y, Hiura M, Shibata M, Matsuhashi T, Abe S, Harada R, Tabaru A.
Intern Med. 2011;50(14):1461-4.
Anemia
Adult Anemia Ceruloplasmin Chelating Agents Chelation Therapy Hemochromatosis Hepatolenticular Degeneration Homo sapiens Male
23
(27.2%)		 18825711
 Use of the molecular adsorbents recirculating system as a treatment for acute decompensated Wilson disease.
Chiu A, Tsoi NS, Fan ST.
Liver Transpl. 2008;14(10):1512-6.
Hemolytic anemia
Females Hemodiafiltration Hepatolenticular Degeneration Homo sapiens Male Young Adult
23
(27.2%)		 17285615
 Therapeutic plasmapheresis as a bridge to liver transplantation in fulminant Wilson disease.
Jhang JS, Schilsky ML, Lefkowitch JH, Schwartz J.
J Clin Apher. 2007;22(1):10-4.
Hemolytic anemia
Adult Females Hepatolenticular Degeneration Homo sapiens Liver Function Tests Plasmapheresis
23
(27.2%)		 11217283
 Acute hemolytic anemia as an initial clinical manifestation of Wilson's disease.
Grudeva-Popova JG, Spasova MI, Chepileva KG, Zaprianov ZH.
Folia Med (Plovdiv). 2000;42(2):42-6.
Hemolytic anemia
G6PD
Acute Disease Adult Anemia, Hemolytic Females Hepatolenticular Degeneration Homo sapiens Male
23
(27.2%)		 9248126
 Fulminant hepatic failure as the first manifestation of Wilson disease: a report of two cases.
Chung CC, Wu TC, Sun CH, Chung WW.
Zhonghua Yi Xue Za Zhi (Taipei). 1997;59(5):315-9.
Hemolytic anemia
Child Females Hepatic Encephalopathy Hepatolenticular Degeneration Homo sapiens
23
(27.2%)		 7234865
 Hemolytic anemia in Wilson disease: clinical findings and biochemical mechanisms.
Forman SJ, Kumar KS, Redeker AG, Hochstein P.
Am J Hematol. 1980;9(3):269-75.
Hemolytic anemia
HK1
Adult Anemia, Hemolytic Erythrocytes Hepatolenticular Degeneration Homo sapiens Male
        

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