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GENATLAS PHENOTYPE

last update : 11-09-2019

Symbol	PNH
Location	Xp22.2
Name	hemoglobinuria, paroxysmal, nocturnal
Corresponding gene	PIGA
Main clinical features	characterized by complement-mediated hemolysis and cloned expansion of affected cells of various hematopoietic lineages that are thought to be derived from an abnormal multipotential hematopoietic stem cell common acquired form with resistance to apoptosis associated or not with aplastic anemia
Genetic determination	not applicable
Related entries	see also CD59
Function/system disorder	hematology
Type	disease

Remark(s)

somatic mutations leading to deficiency on erythrocytes, and to intravascular hemolysis, since certain GPI-anchored proteins normally function as complement regulators (CD55, and CD59)