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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 1 - 10 of 25 in total
Gene ID Gene Symbol Description Source
683 BST1 bone marrow stromal cell antigen 1
912 CD1D CD1d molecule
929 CD14 CD14 molecule
952 CD38 CD38 molecule
962 CD48 CD48 molecule
1604 CD55 CD55 molecule (Cromer blood group)
2215 FCGR3B Fc gamma receptor IIIb
2523 FUT1 fucosyltransferase 1 (H blood group)
2526 FUT4 fucosyltransferase 4
2539 G6PD glucose-6-phosphate dehydrogenase
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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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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