| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.9%) |
8135612 |
[Wilson disease, IgA glomerulonephritis and vascular purpura: an incidental association?]. Sarles J, Durand JM, Scheiner C, Picon G. Arch Fr Pediatr. 1993;50(6):501-4. |
| Proteinuria Petechiae Splenomegaly Microcytic anemia | ||
| CP SERPINA1 | ||
| Child Females Hepatolenticular Degeneration Homo sapiens IGA Glomerulonephritis Liver Cirrhosis Purpura | ||
| 2 (53.3%) |
21901661 |
Atypical presentation of Wilson disease. Wadera S, Magid MS, McOmber M, Carpentieri D, Miloh T. Semin Liver Dis. 2011;31(3):319-26. |
| Cholestasis Hemolytic anemia Fever | ||
| CP | ||
| Ceruloplasmin Cholestasis Confusion Fatigue Females Fever Hepatolenticular Degeneration Homo sapiens Icterus Liver Function Tests | ||
| 3 (51.7%) |
25617103 |
Wilson disease with thrombocytopenia (case report). Zhvania M, Gogberashvili K, Gagoshidze M, Uberi E. Georgian Med News. 2014;(237):61-4. |
| Jaundice Edema Splenomegaly Thrombocytopenia | ||
| CP | ||
| Females Hepatolenticular Degeneration Homo sapiens Liver Thrombocytopenia | ||
| 4 (48.9%) |
22019423 |
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report. Zappu A, Lepori MB, Incollu S, Dessi V, Noli MC, Mameli E, Bonafe L, Garcia Depraz N, De Virgiliis S, Cao A, Loudianos G. Mol Cell Probes. 2012;26(2):63-5. |
| Hepatosplenomegaly Anemia | ||
| ATP7B | ||
| c|SUB|T|1946+6|C;RS#:751287778 rs751287778 | ||
| Adenosine Triphosphatases Base Sequence Cation Transport Proteins Child Consensus Sequence Copper-Transporting ATPases Females Hepatolenticular Degeneration Homo sapiens Homozygote Molecular Diagnostic Techniques Point Mutation Protein Isoforms RNA Splice Sites Sequence Analysis, RNA Transcription, Genetic | ||
| 5 (48.0%) |
26508179 |
Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome. Sirucek P, Sulakova A, Jirsa M, Mrhac L, Havel M, Kraft O. Pediatr Int. 2015;57(5):981-5. |
| Jaundice Hemolytic anemia | ||
| GPT | ||
| Child Cholecystography Differential Diagnosis Females Gallbladder Homo sapiens Hyperbilirubinemia, Hereditary Icterus Radionuclide Imaging | ||
| 5 (48.0%) |
21516016 |
Acute nonimmune hemolytic anemia without fulminant hepatitis in Wilson disease. Agrawal AK, Haddad FG, Matsunaga A. J Pediatr Hematol Oncol. 2011;33(4):e163-5. |
| Jaundice Hemolytic anemia | ||
| Acute Disease Anemia, Hemolytic Females Hepatitis Hepatolenticular Degeneration Homo sapiens Icterus Severity of Illness Index | ||
| 5 (48.0%) |
2264486 |
[Wilson disease presenting as fulminant hepatic failure, acute hemolytic anemia and renal failure: report of one case]. Tseng CL, Tsai SL, Lin KH, Chang MH, Wang TR, Hsu YH, Hsu HC. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990;31(4):266-71. |
| Jaundice Hemolytic anemia | ||
| CP | ||
| Acute Disease Anemia, Hemolytic Child Hepatic Encephalopathy Hepatolenticular Degeneration Homo sapiens Kidney Diseases Male | ||
| 8 (42.5%) |
19381668 |
Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases. Czlonkowska A, Gromadzka G, Buttner J, Chabik G. Arch Gynecol Obstet. 2010;281(1):129-34. |
| Cirrhosis Hemolytic anemia | ||
| Adult Differential Diagnosis Females HELLP Syndrome Hepatolenticular Degeneration Homo sapiens Liver Pregnancy | ||
| 8 (42.5%) |
19131782 |
Acute Wilson disease associated with E beta-thalassemia. Thapa R, Mukherjee K. J Pediatr Hematol Oncol. 2008;30(12):925-7. |
| Hemolytic anemia Hepatitis | ||
| Acute Disease Child Coombs Test Differential Diagnosis Females Hepatolenticular Degeneration Homo sapiens beta Thalassemia | ||
| 10 (38.4%) |
28435998 |
A 6-year-old boy with Wilson disease-A diagnostic dilemma. Ganesh R, Suresh N, Vasanthi T, Sathiyasekaran M, Thulasiraman R. Indian J Gastroenterol. 2017;36(2):149-154. |
| Jaundice Hepatosplenomegaly Hyperbilirubinemia | ||
| ATP7B CP | ||
| p|SUB|R|969|Q;RS#:121907996 | ||
| Adenosine Triphosphatases Autoantibodies Biological Markers Biopsy Cation Transport Proteins Child Copper-Transporting ATPases Hepatolenticular Degeneration Homo sapiens Liver Male Mutation Serum Globulins Transaminases |
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%) |
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 |