Preferred Label : PIGA Deficiency;
NCIt synonyms : PIGA GPI Anchor Protein Defect; Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A Deficiency; PIGA GPI Anchor Protein Deficiency;
NCIt definition : An X-linked recessive inherited disorder caused by loss of function mutations in the
PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop
somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures
syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20).;
NCI Metathesaurus CUI : CL1407302;
Origin ID : C173571;
UMLS CUI : C5420267;
Semantic type(s)
- disease_mapped_to_gene
