ADA
MCID: ADN001
MIFTS: 69

Adenosine Deaminase Deficiency (ADA) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Summaries for Adenosine Deaminase Deficiency

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9Disease Ontology, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Disease Ontology:9 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.

MalaCards: Adenosine Deaminase Deficiency, also known as severe combined immunodeficiency due to ada deficiency, is related to severe combined immunodeficiency and purine nucleoside phosphorylase deficiency. An important gene associated with Adenosine Deaminase Deficiency is ADA (adenosine deaminase), and among its related pathways are purine nucleotide salvage and Purine metabolism. The drug pegademase bovine and the compounds deoxyinosine and 9-(beta-d-arabinofuranosyl)guanine have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and nk cells, and related mouse phenotypes are mortality/aging and immune system.

Wikipedia:66 Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID, is an autosomal... more...

Description from OMIM:48 102700

GeneReviews summary for ada

Aliases & Classifications for Adenosine Deaminase Deficiency

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Sources:
9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 46Novoseek, 63UMLS, 10diseasecard, 21GeneTests, 50Orphanet, 23GTR, 48OMIM, 59SNOMED-CT, 36MeSH, 41NCIt, 60SNOMED-CT via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

50
ada deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

adenosine deaminase deficiency 9 20 44 22 46 63
severe combined immunodeficiency due to ada deficiency 44 23 22 48
ada deficiency 20 44 22 50
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 44 22 63
adenosine deaminase deficient severe combined immunodeficiency 44 21 22
ada-scid 20 44 22
severe combined immunodeficiency due to adenosine deaminase deficiency 44 50
scid due to ada deficiency 44 22
adenosine deaminase 10 21
scid due to adenosine deaminase deficiency 50
deficiency of adenosine deaminase 9
severe combined immunodeficiency 63
ada 9


External Ids:

Disease Ontology9 DOID:5810
MeSH36 C531816
OMIM48 102700
NCIt41 C3962
SNOMED-CT via Orphanet60 44940001
MESH via Orphanet37 C531816
ICD10 via Orphanet27 D81.3
UMLS via Orphanet64 C0392607
ICD1026 D81.3

Related Diseases for Adenosine Deaminase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Adenosine Deaminase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency31.6PNP, AHCY, ADA
2purine nucleoside phosphorylase deficiency30.8AHCY, ADA
3rheumatoid arthritis30.7DNTT, PNP, ADA
4gaucher's disease30.4ADA, GBA
5chronic lymphocytic leukemia30.3DNTT, PNP, ADA
6chronic granulomatous disease30.3ADA, OTC
7non-hodgkin lymphoma30.3DNTT, PNP, ADA
8burkitt's lymphoma30.2DNTT, PNP, ADA
9primary immunodeficiency disease30.2PNP
10leukemia29.6GBA, PNP, AHCY, DNTT, OTC, ADA
11partial adenosine deaminase deficiency10.7
12arthritis10.6
13lupus erythematosus10.5
14systemic lupus erythematosus10.4
15breast cancer10.4
16hepatitis10.4
17hematopoietic stem cell transplantation10.4
18peritonitis10.4
19measles10.4
20eclampsia10.4
21hiv-110.4
22tuberculosis10.4
23pleurisy10.3
24delayed-/late-onset adenosine deaminase deficiency10.3
25panic disorder10.3
26acquired immunodeficiency syndrome10.3
27liver cirrhosis10.3
28pneumonia10.3
29pre-eclampsia10.3
30psoriasis10.3
31t-cell leukemia10.3
32tuberculous peritonitis10.3
33hemolytic anemia10.2
34meningitis10.2
35pericarditis10.2
36diamond-blackfan anemia10.2
37gastric ulcer10.2
38mycosis fungoides10.2
39duodenitis10.2
40cartilage-hair hypoplasia10.2
41gastritis10.2
42hypertension10.2
43laryngitis10.2
44lymphoblastic leukemia10.2
45monocytic leukemia10.2
46sarcoidosis10.2
47hemolytic anemia due to erythrocyte adenosine deaminase overproduction10.2
48pulmonary tuberculosis10.2
49macroglobulinemia10.2
50extrapulmonary tuberculosis10.2

Graphical network of the top 20 diseases related to Adenosine Deaminase Deficiency:



Diseases related to adenosine deaminase deficiency

Symptoms for Adenosine Deaminase Deficiency

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Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

102700

Clinical features from OMIM:

102700

Drugs & Therapeutics for Adenosine Deaminase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Adenosine Deaminase Deficiency

Drug clinical trials:

Search ClinicalTrials for Adenosine Deaminase Deficiency

Search NIH Clinical Center for Adenosine Deaminase Deficiency

Search CenterWatch for Adenosine Deaminase Deficiency

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Adenosine Deaminase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Adenosine Deaminase Deficiency:

id Genetic test Affiliating Genes
1 Adenosine Deaminase Deficiency21 ADA
2 Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (scid)21
3 Severe Combined Immunodeficiency Due to Ada Deficiency23

Anatomical Context for Adenosine Deaminase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

34
T cells, B cells, Nk cells, Bone marrow, Bone, Testes, Liver, Lung, Myeloid, Fetal liver, Small intestine, Skin, Thyroid, Spleen, B lymphoblasts

Animal Models for Adenosine Deaminase Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.9OTC, ITPA, ADA, PNP, GBA
2MP:00053877.8GBA, PNP, ADA, DNTT, OTC
3MP:00053847.6GBA, PNP, ADA, ITPA, OTC
4MP:00053977.4OTC, DNTT, ITPA, ADA, PNP, GBA

Publications for Adenosine Deaminase Deficiency

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Sources:
53PubMed
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Articles related to Adenosine Deaminase Deficiency:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. (22350222)
2012
2
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. (22262755)
2012
3
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. (22622038)
2012
4
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. (20493398)
2010
5
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. (24198507)
2009
6
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. (19665771)
2009
7
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. (19179314)
2009
8
Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. (19018008)
2008
9
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. (17185467)
2007
10
Neurologic abnormalities in patients with adenosine deaminase deficiency. (17765813)
2007
11
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. (17614781)
2007
12
Severe combined immune deficiency in an adenosine deaminase-deficient patient. (16724639)
2006
13
Gene therapy for adenosine deaminase deficiency]. (15773344)
2005
14
Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. (16263974)
2005
15
Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation. (15705418)
2005
16
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. (14760277)
2004
17
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
18
New models for the study of adenosine deaminase deficiency. (9598108)
1998
19
High-efficiency gene transfer into normal and adenosine deaminase-deficient T lymphocytes is mediated by transduction on recombinant fibronectin fragments. (9573255)
1998
20
Generation of normal lymphocyte populations following transplantation of adenosine-deaminase-deficient fetal liver cells. (9193758)
1997
21
Adenosine deaminase deficiency in adults. (9108404)
1997
22
Insights into thymic purine metabolism and adenosine deaminase deficiency revealed by transgenic mice overexpressing ecto-5'-nucleotidase (CD73). (9045870)
1997
23
Full genetic rescue of adenosine deaminase-deficient mice through introduction of the human gene. (8894685)
1996
24
Bone marrow gene transfer in three patients with adenosine deaminase deficiency. (8867866)
1996
25
Gene therapy for adenosine deaminase deficiency. (7767649)
1995
26
Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. (8120281)
1994
27
Adenosine Deaminase Deficiency (20301656)
1993
28
Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID). (1749685)
1991
29
Donor type natural killer cells after haploidentical T cell-depleted bone marrow stem cell transplantation in a patient with adenosine deaminase-deficient severe combined immunodeficiency. (1712689)
1991
30
Effects of deoxyadenosine on ribonucleotide reductase in adenosine deaminase-deficient lymphocytes. (1830628)
1991
31
Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. (2395602)
1990
32
Immunological and metabolic reconstitution following successful bone marrow transplantation from a HLA-identical sibling in an infant with adenosine deaminase deficiency and severe combined immunodeficiency: partial restoration of purine metabolism. (2624235)
1989
33
Rejection of bone marrow transplant and resistance of alloantigen reactive cells to in vivo deoxyadenosine in adenosine deaminase deficiency. (2971490)
1988
34
Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. (3260944)
1988
35
Adenosine deaminase deficiency. (3108284)
1987
36
Complete and partial adenosine deaminase deficiency. Relationship of immune function to metabolite concentrations, enzyme activity, and effects of therapy. (3907453)
1985
37
Iron overload as a result of transfusion therapy in a patient with adenosine deaminase deficiency. (3982555)
1985
38
Abnormalities in S-adenosylhomocysteine hydrolysis, ATP catabolism, and lymphoid differentiation in adenosine deaminase deficiency. (3865575)
1985
39
Interleukin 2 liberation and absorption capacities of rat T lymphocytes in conditions of severe adenylic nucleotide pool depletion due to adenosine deaminase deficiency. (3877709)
1985
40
HLA typing of amniotic fluid cells for the prenatal determination of therapeutic transplantation options for a fetus affected with adenosine deaminase deficiency. (6351373)
1983
41
Abnormal platelet aggregation in severe combined immunodeficiency disease with adenosine deaminase deficiency. (678472)
1978
42
Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes. (930931)
1977
43
Adenosine deaminase deficiency and severe combined immunodeficiency disease. (195170)
1977
44
Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency. (947948)
1976
45
Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme. (1061119)
1976
46
Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973. (1089440)
1975
47
Severe combined immunodeficiency and adenosine deaminase deficiency. (1089883)
1975
48
Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency. (4815083)
1974
49
Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual. (4125820)
1973
50
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. (4117384)
1972

Variations for Adenosine Deaminase Deficiency

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Adenosine Deaminase Deficiency:

65 (show all 27)
id Symbol AA change Variation ID SNP ID
1ADAp.His15AspVAR_002210rs121908725
2ADAp.Gly20ArgVAR_002211rs121908724
3ADAp.Gly74CysVAR_002212rs121908730
4ADAp.Arg76TrpVAR_002213rs121908736
5ADAp.Ala83AspVAR_002215rs121908726
6ADAp.Arg101LeuVAR_002216rs121908720
7ADAp.Arg101TrpVAR_002217rs28930969
8ADAp.Arg101GlnVAR_002218rs28930970
9ADAp.Leu107ProVAR_002219rs121908739
10ADAp.Val129MetVAR_002220rs121908731
11ADAp.Gly140GluVAR_002221rs121908732
12ADAp.Arg149GlnVAR_002223rs121908737
13ADAp.Arg149TrpVAR_002224rs121908733
14ADAp.Arg156CysVAR_002226rs121908735
15ADAp.Arg156HisVAR_002227rs121908722
16ADAp.Val177MetVAR_002228rs121908719
17ADAp.Ala179AspVAR_002229rs121908727
18ADAp.Gln199ProVAR_002230rs121908734
19ADAp.Arg211CysVAR_002231rs121908740
20ADAp.Arg211HisVAR_002232rs121908716
21ADAp.Ala215ThrVAR_002233rs114025668
22ADAp.Gly216ArgVAR_002234rs121908723
23ADAp.Pro274LeuVAR_002236rs121908738
24ADAp.Ser291LeuVAR_002237rs121908721
25ADAp.Pro297GlnVAR_002238rs121908718
26ADAp.Leu304ArgVAR_002239
27ADAp.Ala329ValVAR_002240rs121908715

Clinvar genetic disease variations for Adenosine Deaminase Deficiency:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1ADANM_000022.2(ADA): c.301C> T (p.Arg101Trp)single nucleotide variantPathogenicrs121908717GRCh37Chr 20, 43255158: 43255158
2ADANM_000022.2(ADA): c.302G> A (p.Arg101Gln)single nucleotide variantPathogenicrs121908714GRCh37Chr 20, 43255157: 43255157
3ADANM_000022.2(ADA): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs121908716GRCh37Chr 20, 43251694: 43251694
4ADANM_000022.2(ADA): c.911T> G (p.Leu304Arg)single nucleotide variantPathogenicrs199422327GRCh37Chr 20, 43249723: 43249723
5ADANM_000022.2(ADA): c.986C> T (p.Ala329Val)single nucleotide variantPathogenicrs121908715GRCh37Chr 20, 43249032: 43249032
6ADAADA, 3.25-KB DEL, ALU-RELATEDdeletionPathogenic
7ADANM_000022.2(ADA): c.890C> A (p.Pro297Gln)single nucleotide variantPathogenicrs121908718GRCh37Chr 20, 43249744: 43249744
8ADANM_000022.2(ADA): c.226C> T (p.Arg76Trp)single nucleotide variantPathogenicrs121908736GRCh37Chr 20, 43255233: 43255233
9ADANM_000022.2(ADA): c.446G> A (p.Arg149Gln)single nucleotide variantPathogenicrs121908737GRCh37Chr 20, 43254242: 43254242
10ADANM_000022.2(ADA): c.821C> T (p.Pro274Leu)single nucleotide variantPathogenicrs121908738GRCh37Chr 20, 43251253: 43251253
11ADANM_000022.2(ADA): c.320T> C (p.Leu107Pro)single nucleotide variantPathogenicrs121908739GRCh37Chr 20, 43255139: 43255139
12ADANM_000022.2(ADA): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs121908740GRCh37Chr 20, 43251695: 43251695
13ADANM_000022.2(ADA): c.643G> A (p.Ala215Thr)single nucleotide variantPathogenicrs114025668GRCh37Chr 20, 43251683: 43251683
14ADANM_000022.2(ADA): c.646G> A (p.Gly216Arg)single nucleotide variantPathogenicrs121908723GRCh37Chr 20, 43251680: 43251680
15ADANM_000022.2(ADA): c.219-2A> Gsingle nucleotide variantPathogenicrs387906267GRCh37Chr 20, 43255242: 43255242
16ADANM_000022.2(ADA): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs121908735GRCh37Chr 20, 43254222: 43254222
17ADANM_000022.2(ADA): c.872C> T (p.Ser291Leu)single nucleotide variantPathogenicrs121908721GRCh37Chr 20, 43249762: 43249762
18ADAADA, IVS2DS, G-A, +1single nucleotide variantPathogenic
19ADAADA, 7-BP INS, IVS8ASindelPathogenicGRCh37Chr 20, 43251293: 43251296
20ADANM_000022.2(ADA): c.33+1G> Csingle nucleotide variantPathogenicGRCh37Chr 20, 43280215: 43280215
21ADANM_000022.2(ADA): c.221G> T (p.Gly74Val)single nucleotide variantPathogenicrs199422328GRCh37Chr 20, 43255238: 43255238
22ADAADA, IVS5DS, G-A, +1single nucleotide variantPathogenic
23ADANM_000022.2(ADA): c.454C> A (p.Leu152Met)single nucleotide variantPathogenicrs121908728GRCh37Chr 20, 43254234: 43254234
24ADANM_000022.2(ADA): c.698C> T (p.Thr233Ile)single nucleotide variantPathogenicrs121908729GRCh37Chr 20, 43251552: 43251552
25ADANM_000022.2(ADA): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs121908722GRCh37Chr 20, 43254221: 43254221

Expression for genes affiliated with Adenosine Deaminase Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Adenosine Deaminase Deficiency

Search GEO for disease gene expression data for Adenosine Deaminase Deficiency.

Pathways for genes affiliated with Adenosine Deaminase Deficiency

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 31KEGG, 52PharmGKB
See all sources

Pathways related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
guanosine nucleotides de novo biosynthesis39
guanosine ribonucleotides de novo biosynthesis39
adenosine ribonucleotides de novo biosynthesis39
purine nucleotides de novo biosynthesis39
9.7ADA, PNP
2
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
9.2ITPA, PNP, ADA
3
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
9.2PNP, ADA, ITPA
4
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.0ITPA, ADA, AHCY
5
Show member pathways
7.3GBA, PNP, AHCY, ADA, ITPA, OTC

Compounds for genes affiliated with Adenosine Deaminase Deficiency

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB
See all sources

Compounds related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1deoxyinosine46 2511.1PNP, ADA
29-(beta-d-arabinofuranosyl)guanine4610.1ADA, PNP
3nelarabine46 1211.1PNP, ADA
42,3-dideoxyadenosine4610.0PNP, ADA
5pentostatin46 62 30 1213.0PNP, ADA
6didanosine46 52 1212.0ADA, PNP
7deoxyguanosine46 2511.0PNP, ADA
8cordycepin4610.0DNTT, ADA
9xanthosine46 2510.9ITPA, PNP
10xanthosine 5-triphosphate46 2510.9PNP, ITPA
11neplanocin a469.9ADA, AHCY
12deoxycytidine46 2510.9ADA, PNP
136 thioguanine469.9ITPA, PNP
14thiopurine469.8ITPA, PNP
152 chloroadenosine469.8AHCY, ADA
16triphosphate46 2510.7ITPA, DNTT
17acyclovir46 1210.7PNP, AHCY
18ribose469.7PNP, AHCY
19parathion46 2510.7PNP, DNTT
20cytidine46 25 1211.6ADA, DNTT
212-chlorodeoxyadenosine469.6DNTT, PNP, ADA
22fludarabine46 52 1211.6PNP, DNTT, ADA
23allopurinol46 52 1211.5ADA, OTC
24deoxyadenosine46 2510.5PNP, ADA, AHCY
25adenosine30 25 1211.5PNP, AHCY, ADA
265-methylthioadenosine469.5PNP, AHCY, ADA
27hypoxanthine46 25 1211.5PNP, ADA, AHCY
28s-adenosylhomocysteine46 2510.5ADA, PNP, AHCY
29dgtp46 2510.5PNP, ITPA, DNTT
30adenine46 25 1211.4PNP, ADA, AHCY
31xanthine46 2510.4PNP, ADA
32inosine monophosphate469.3ITPA, PNP, AHCY
33pyrimidine46 2510.3PNP, ADA, OTC
34pyrophosphate46 2510.2PNP, ITPA, DNTT
35malate469.1OTC, PNP
36hydrogen46 2510.1AHCY, GBA, PNP
37thymidine46 2510.1DNTT, PNP, GBA
38adenylate469.1GBA, PNP, DNTT, ADA
39methotrexate52 46 1211.0GBA, ADA, ITPA, DNTT
40purine nucleoside469.0AHCY, DNTT, ADA, PNP
41inosine46 2510.0ITPA, PNP, AHCY, ADA
42ribavirin46 52 1211.0ITPA, AHCY, PNP, ADA
43nucleoside469.0PNP, ADA, DNTT, AHCY
44creatinine468.9PNP, OTC, ADA
45cysteine468.8PNP, AHCY, ADA, GBA
46Water258.8AHCY, GBA, ITPA, ADA
47lactate468.7PNP, ADA, DNTT, OTC
48aspartate468.7DNTT, ADA, PNP, OTC
49purine46 259.5AHCY, DNTT, ITPA, ADA, PNP
50atp46 309.1AHCY, OTC, PNP, DNTT, ADA

GO Terms for genes affiliated with Adenosine Deaminase Deficiency

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17Gene Ontology
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Biological processes related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of alpha-beta T cell differentiationGO:0466389.8ADA, PNP
2purine-containing compound salvageGO:0431019.7PNP, ADA
3purine nucleobase metabolic processGO:0061449.6PNP, ADA
4negative regulation of inflammatory responseGO:0507289.3GBA, ADA
5nucleobase-containing small molecule metabolic processGO:0550869.3ADA, ITPA, PNP
6liver developmentGO:0018899.3ADA, OTC
7small molecule metabolic processGO:0442817.4AHCY, GBA, PNP, OTC, ITPA, ADA

Molecular functions related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphate ion bindingGO:0423019.2OTC, PNP

Products for genes affiliated with Adenosine Deaminase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenosine Deaminase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet