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Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:0060284
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying entries 11 - 20 of 25 in total
Gene ID Gene Symbol Description Source
2821 GPI glucose-6-phosphate isomerase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5281 PIGF phosphatidylinositol glycan anchor biosynthesis class F
5329 PLAUR plasminogen activator, urokinase receptor
5621 PRNP prion protein (Kanno blood group)
6402 SELL selectin L
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
10455 ECI2 enoyl-CoA delta isomerase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
18700 Piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
363464 Piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
37020 PIG-A Phosphatidylinositol glycan anchor biosynthesis class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
791759 piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100158632 piga phosphatidylinositol glycan anchor biosynthesis class A Xenopus tropicalis (tropical clawed frog)
108707921 piga.L phosphatidylinositol glycan anchor biosynthesis class A L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174386 piga-1 phosphatidylinositol N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855928 SPT14 phosphatidylinositol N-acetylglucosaminyltransferase SPT14
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q75T13 GPI inositol-deacylase
Q969N2 GPI transamidase component PIG-T
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0001923 Reticulocytosis
HP:0012543 Hemosiderinuria
HP:0001658 Myocardial infarction
HP:0002639 Budd-Chiari syndrome
HP:0000822 Hypertension
HP:0002204 Pulmonary embolism
HP:0004420 Arterial thrombosis
HP:0001882 Leukopenia
HP:0000093 Proteinuria
HP:0002574 Episodic abdominal pain
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

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024