adenosine deaminase deficiency

Summary
Synonym
  • ADA
Definition
A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.
Super Class
severe combined immunodeficiency
External Links
Disease Ontology
DOID:5810
Mondo Disease Ontology
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 27 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
952 CD38 CD38 molecule
1048 CEACAM5 CEA cell adhesion molecule 5
1087 CEACAM7 CEA cell adhesion molecule 7
1573 CYP2J2 cytochrome P450 family 2 subfamily J member 2
2137 EXTL3 exostosin like glycosyltransferase 3
2262 GPC5 glypican 5
2523 FUT1 fucosyltransferase 1 (H blood group)
3948 LDHC lactate dehydrogenase C
3956 LGALS1 galectin 1
Related Glycoprotein

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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