| H01078 | |
| H number | H01078 |
| Name | Fletcher factor deficiency; Prekallikrein deficiency (PKKD) |
| Description | Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time and delayed thromboplastin generation but normal prothrombin time. |
| Category | Hematologic disease |
| Network | nt06514(H01078) Coagulation cascade |
| Gene | KLKB1 [HSA:3818] [KO:K01324] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B15 ICD-10: D68.8 OMIM: 612423 |
| Reference | PMID:21091145 AUTHORS Girolami A, Scarparo P, Candeo N, Lombardi AM TITLE Congenital prekallikrein deficiency. JOURNAL Expert Rev Hematol 3:685-95 (2010) DOI:10.1586/ehm.10.69 PMID:6902559 AUTHORS Ragni MV, Lewis JH, Hasiba U, Spero JA TITLE Prekallikrein (Fletcher factor) deficiency in clinical disease states. JOURNAL Thromb Res 18:45-54 (1980) DOI:10.1016/0049-3848(80)90169-3 |