paroxysmal nocturnal hemoglobinuria

Summary
Definition
An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.
Super Class
hemoglobinuria
Disease Ontology
DOID:0060284
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
718 C3 complement C3
727 C5 complement C5
3117 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
51604 PIGT phosphatidylinositol glycan anchor biosynthesis class T
Displaying 1 entry
Gene ID Gene Symbol Description Source
855928 SPT14 phosphatidylinositol N-acetylglucosaminyltransferase SPT14
The Human Phenotype Ontology
Displaying entries 21 - 30 of 43 in total
HPO ID HPO Term
HP:0012622 Chronic kidney disease
HP:0001254 Lethargy
HP:0000952 Jaundice
HP:0002015 Dysphagia
HP:0004420 Arterial thrombosis
HP:0012132 Erythroid hyperplasia
HP:0004936 Venous thrombosis
HP:0003138 Increased blood urea nitrogen
HP:0000093 Proteinuria
HP:0001297 Stroke
Displaying all 2 entries
Gene ID Gene Symbol Description
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
51604 PIGT phosphatidylinositol glycan anchor biosynthesis class T

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Acknowledgements

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Last updated: August 4, 2025