hereditary elliptocytosis

Summary
Synonym
  • Congenital elliptocytosis
  • ovalocytosis
Definition
A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
Super Class
hematopoietic system disease
External Links
Disease Ontology
DOID:2373
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
226 ALDOA aldolase, fructose-bisphosphate A
249 ALPL alkaline phosphatase, biomineralization associated
250 ALPP alkaline phosphatase, placental
847 CAT catalase
1604 CD55 CD55 molecule (Cromer blood group)
2182 ACSL4 acyl-CoA synthetase long chain family member 4
2539 G6PD glucose-6-phosphate dehydrogenase
2821 GPI glucose-6-phosphate isomerase
3098 HK1 hexokinase 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1

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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