| 順位 （類似度） |
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. |
| 蛋白尿 点状出血 脾腫 小球性貧血 | ||
| CP SERPINA1 | ||
| IgA糸球体腎炎 ヒト 女 子供 紫斑病 肝レンズ核変性症 肝硬変 | ||
| 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. |
| 胆汁うっ滞 溶血性貧血 発熱 | ||
| CP | ||
| セルロプラスミン ヒト 女 混乱 疲労 発熱 肝レンズ核変性症 肝機能検査 胆汁うっ滞 黄疸 | ||
| 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. |
| 黄疸 浮腫 脾腫 血小板減少 | ||
| CP | ||
| ヒト 女 肝レンズ核変性症 肝臓 血小板減少症 | ||
| 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. |
| 肝脾腫 貧血 | ||
| ATP7B | ||
| c|SUB|T|1946+6|C;RS#:751287778 rs751287778 | ||
| ATP分解酵素 RNAスプライス部位 RNA配列解析 カチオン輸送体 タンパク質アイソフォーム ヒト ホモ接合体 共通配列 分子診断技術 塩基配列 女 子供 点変異 肝レンズ核変性症 遺伝子転写 銅輸送ATPase | ||
| 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. |
| 黄疸 溶血性貧血 | ||
| GPT | ||
| ヒト 女 子供 放射性核種イメージング 胆嚢 胆嚢造影 遺伝性高ビリルビン血症 鑑別診断 黄疸 | ||
| 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. |
| 黄疸 溶血性貧血 | ||
| ヒト 女 急性疾患 溶血性貧血 肝レンズ核変性症 肝炎 重症度インデックス 黄疸 | ||
| 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. |
| 黄疸 溶血性貧血 | ||
| CP | ||
| ヒト 子供 急性疾患 溶血性貧血 男 肝レンズ核変性症 肝性脳症 腎疾患 | ||
| 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. |
| 肝硬変 溶血性貧血 | ||
| ヒト ヘルプ症候群 女 妊娠 成人 肝レンズ核変性症 肝臓 鑑別診断 | ||
| 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. |
| 溶血性貧血 肝炎 | ||
| βサラセミア クームス試験 ヒト 女 子供 急性疾患 肝レンズ核変性症 鑑別診断 | ||
| 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. |
| 黄疸 肝脾腫 高ビリルビン血症 | ||
| ATP7B CP | ||
| p|SUB|R|969|Q;RS#:121907996 | ||
| ATP分解酵素 アミノ基転移酵素 カチオン輸送体 ヒト 変異 子供 生物学的マーカー 男 組織診 肝レンズ核変性症 肝臓 自己抗体 血清グロブリン 銅輸送ATPase |
合計: 33
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000140 | 月経周期異常 | Very frequent (99-80%) |
| HP:0000716 | うつ | Very frequent (99-80%) |
| HP:0000718 | 攻撃的行動 | Very frequent (99-80%) |
| HP:0000952 | 黄疸 | Very frequent (99-80%) |
| HP:0000978 | 出血傾向 | Very frequent (99-80%) |
| HP:0000989 | 掻痒 | Very frequent (99-80%) |
| HP:0001155 | 手の異常 | Very frequent (99-80%) |
| HP:0001249 | 知的障害 | Very frequent (99-80%) |
| HP:0001260 | 構音障害 | Very frequent (99-80%) |
| HP:0001369 | 関節炎 | Very frequent (99-80%) |
| HP:0001386 | 関節腫脹 | Very frequent (99-80%) |
| HP:0001394 | 肝硬変 | Very frequent (99-80%) |
| HP:0001397 | 脂肪肝 | Very frequent (99-80%) |
| HP:0001508 | 成長障害 (成長不全) | Very frequent (99-80%) |
| HP:0001744 | 脾腫 | Very frequent (99-80%) |
| HP:0001824 | 体重喪失 | Very frequent (99-80%) |
| HP:0001873 | 血小板減少 | Very frequent (99-80%) |
| HP:0001903 | 貧血 | Very frequent (99-80%) |
| HP:0002240 | 肝腫大 | Very frequent (99-80%) |
| HP:0002312 | 不器用 | Very frequent (99-80%) |
| HP:0002355 | 歩行困難 | Very frequent (99-80%) |
| HP:0002653 | 骨痛 | Very frequent (99-80%) |
| HP:0002756 | 病的骨折 | Very frequent (99-80%) |
| HP:0002829 | 関節痛 | Very frequent (99-80%) |
| HP:0002910 | 肝トランスアミナーゼ上昇 | Very frequent (99-80%) |
| HP:0003418 | 背部痛 | Very frequent (99-80%) |
| HP:0004324 | 体重増加 | Very frequent (99-80%) |
| HP:0006554 | 急性肝不全 | Very frequent (99-80%) |
| HP:0008994 | 下肢の近位筋虚弱 | Very frequent (99-80%) |
| HP:0012115 | 肝炎 | Very frequent (99-80%) |
| HP:0030214 | Hypersexuality | Very frequent (99-80%) |
| HP:0200032 | Kayser-Fleischer 環 | Very frequent (99-80%) |
| HP:0200119 | 急性肝炎 | Very frequent (99-80%) |
合計: 83