| H01214 | |
| H番号 | H01214 |
| 名称 | Rh欠損症候群 |
| 概要 | Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprotein and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | RHAG [HSA:6005] [KO:K06580] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A10.Y ICD-10: D58.8 OMIM: 268150 |
| 文献 | PMID:10467273 著者 Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y タイトル Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. 雑誌 Am J Hematol 62:25-32 (1999) DOI:10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO;2-K PMID:9442063 著者 Huang CH タイトル The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. 雑誌 J Biol Chem 273:2207-13 (1998) DOI:10.1074/jbc.273.4.2207 |