KEGG   DISEASE: Paroxysmal nocturnal hemoglobinuria
Entry
H01053                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01053  Paroxysmal nocturnal hemoglobinuria
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Acquired haemolytic anaemia
     3A21  Acquired haemolytic anaemia, non-immune
      H01053  Paroxysmal nocturnal hemoglobinuria
Related
pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Gene
(PNH1) PIGA [HSA:5277] [KO:K03857]
(PNH2) PIGT [HSA:51604] [KO:K05292]
Drug
Eculizumab [DR:D03940]
Ravulizumab [DR:D11054]
Pegcetacoplan [DR:D11613]
Other DBs
ICD-11: 3A21.0
ICD-10: D59.5
OMIM: 300818 615399
Reference
  Authors
Savage WJ, Brodsky RA
  Title
New insights into paroxysmal nocturnal hemoglobinuria.
  Journal
Hematology 12:371-6 (2007)
DOI:10.1080/10245330701562634
Reference
  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
Reference
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
Reference
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
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