| H01053 | |
| H number | H01053 |
| Name | Paroxysmal nocturnal hemoglobinuria |
| Description | Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators. |
| Category | Hematologic disease |
| Network | - |
| Gene | (PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Eculizumab [DR:D03940] Ravulizumab [DR:D11054] Pegcetacoplan [DR:D11613] |
| Comment | - |
| Other DBs | ICD-11: 3A21.0 ICD-10: D59.5 OMIM: 300818 615399 |
| Reference | PMID:17852463 AUTHORS Savage WJ, Brodsky RA TITLE New insights into paroxysmal nocturnal hemoglobinuria. JOURNAL Hematology 12:371-6 (2007) DOI:10.1080/10245330701562634 PMID:18063459 AUTHORS Brodsky RA TITLE Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. JOURNAL Blood Rev 22:65-74 (2008) DOI:10.1016/j.blre.2007.10.002 PMID:8500164 (PIGA) AUTHORS Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T TITLE Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. JOURNAL Cell 73:703-11 (1993) DOI:10.1016/0092-8674(93)90250-t PMID:23733340 (PIGT) AUTHORS Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H TITLE A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. JOURNAL Blood 122:1312-5 (2013) DOI:10.1182/blood-2013-01-481499 |