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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 21 - 25 of 25 in total
Gene ID Gene Symbol Description Source
22914 KLRK1 killer cell lectin like receptor K1
51604 PIGT phosphatidylinositol glycan anchor biosynthesis class T
54675 CRLS1 cardiolipin synthase 1
80055 PGAP1 post-GPI attachment to proteins inositol deacylase 1
93183 PIGM phosphatidylinositol glycan anchor biosynthesis class M
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 31 - 40 of 43 in total
HPO ID HPO Term
HP:0000952 Jaundice
HP:0002315 Headache
HP:0004936 Venous thrombosis
HP:0001903 Anemia
HP:0003581 Adult onset
HP:0001442 Typified by somatic mosaicism
HP:0004818 Paroxysmal nocturnal hemoglobinuria
HP:0002014 Diarrhea
HP:0002829 Arthralgia
HP:0000006 Autosomal dominant inheritance
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