Preferred Label : Paroxysmal nocturnal hemoglobinuria 1;
Symbol : PNH1;
CISMeF acronym : PNH1;
Type : Phenotype, molecular basis known;
Description : Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia
that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias,
fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem
cells harboring a mutation in the PIGA gene, which encodes a protein required for
the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches
dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface
GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis,
since certain GPI-anchored proteins (i.e., CD55 (125240) and CD59 (107271)) normally
function as complement regulators. Free hemoglobin released from intravascular hemolysis
leads to circulating nitrous oxide depletion and is responsible for many of the clinical
manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm,
and thrombosis (review by Brodsky, 2008). - Genetic Heterogeneity of Paroxysmal Nocturnal
Hemoglobinuria See also PNH2 (615399), which may be caused by germline and somatic
mutation in the PIGT gene (610272) on chromosome 20q13.;
Inheritance : Somatic mutation;
Molecular basis : Caused by somatic mutation in the phosphatidylinositol glycan, class A gene (PIGA,
311770.0001);
Laboratory abnormalities : Defective GlcNAc-PI synthesis;
Prefixed ID : #300818;
Origin ID : 300818;
UMLS CUI : C3806670;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- Validated automatic mappings to NTBT
