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 21 - 27 of 27 in total
Gene ID Gene Symbol Description Source
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6646 SOAT1 sterol O-acyltransferase 1
8050 PDHX pyruvate dehydrogenase complex component X
8809 IL18R1 interleukin 18 receptor 1
10855 HPSE heparanase
23600 AMACR alpha-methylacyl-CoA racemase

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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