ADA
MCID: ADN001
MIFTS: 70

Adenosine Deaminase Deficiency (ADA) malady

Genetic diseases, Rare diseases, Immune diseases, Metabolic diseases, Blood diseases categories
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Summaries for Adenosine Deaminase Deficiency

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Genetics Home Reference:21 Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.

MalaCards based summary: Adenosine Deaminase Deficiency, also known as adenosine deaminase deficient severe combined immunodeficiency, is related to severe combined immunodeficiency and purine nucleoside phosphorylase deficiency, and has symptoms including 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.

Disease Ontology:8 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.

Wikipedia:65 Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID, is an autosomal... more...

Description from OMIM:46 102700

GeneReviews summary for ada

Aliases & Classifications for Adenosine Deaminase Deficiency

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Sources:
62UMLS, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 9diseasecard, 20GeneTests, 48Orphanet, 22GTR, 46OMIM, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Adenosine Deaminase Deficiency, Aliases & Descriptions:

Name: Adenosine Deaminase Deficiency 8 19 42 21 44 62
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 42 20 21 62
Severe Combined Immunodeficiency Due to Ada Deficiency 42 22 21 46
Ada Deficiency 19 42 21 48
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 42 21 62
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 42 48 62
 
Ada-Scid 19 42 21
Scid Due to Ada Deficiency 42 21
Adenosine Deaminase 9 20
Scid Due to Adenosine Deaminase Deficiency 48
Severe Combined Immunodeficiency 62
Ada 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
ada deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

Disease Ontology8 DOID:5810
OMIM46 102700
MeSH34 C531816
NCIt39 C3962
ICD10 via Orphanet26 D81.3
UMLS via Orphanet63 C0392607
MESH via Orphanet35 C531816
ICD1025 D81.3

Related Diseases for Adenosine Deaminase Deficiency

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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 222)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency31.5ADA, AHCY, PNP
2purine nucleoside phosphorylase deficiency30.9ADA, AHCY
3primary immunodeficiency disease30.7PNP
4gaucher's disease30.6ADA, GBA
5chronic granulomatous disease30.6ADA, OTC
6rheumatoid arthritis30.4DNTT, ADA, PNP
7chronic lymphocytic leukemia30.4DNTT, ADA, PNP
8non-hodgkin lymphoma30.3DNTT, ADA, PNP
9burkitt's lymphoma30.1DNTT, ADA, PNP
10acute lymphoblastic leukemia30.1PNP, ADA, DNTT
11leukemia28.7GBA, PNP, AHCY, ADA, DNTT, OTC
12partial adenosine deaminase deficiency10.7
13arthritis10.6
14lupus erythematosus10.5
15systemic lupus erythematosus10.5
16breast cancer10.5
17hematopoietic stem cell transplantation10.4
18hepatitis10.4
19peritonitis10.4
20hiv-110.4
21eclampsia10.4
22measles10.4
23tuberculosis10.4
24pleurisy10.4
25delayed-/late-onset adenosine deaminase deficiency10.4
26hypertension10.3
27liver cirrhosis10.3
28panic disorder10.3
29pneumonia10.3
30pre-eclampsia10.3
31psoriasis10.3
32sarcoidosis10.3
33t-cell leukemia10.3
34tuberculous peritonitis10.3
35hemolytic anemia10.3
36meningitis10.3
37pericarditis10.3
38diamond-blackfan anemia10.3
39mycosis fungoides10.3
40cartilage-hair hypoplasia10.3
41duodenitis10.3
42gastritis10.3
43laryngitis10.3
44lymphoblastic leukemia10.3
45monocytic leukemia10.3
46hemolytic anemia due to erythrocyte adenosine deaminase overproduction10.3
47gaucher disease type 110.3ADA, GBA
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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Symptoms by clinical synopsis from OMIM:

102700

Clinical features from OMIM:

102700

HPO human phenotypes related to Adenosine Deaminase Deficiency:

(show all 27)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sinusitis HP:0000246
3 anterior rib cupping HP:0000907
4 platyspondyly HP:0000926
5 somatic mosaicism HP:0001442
6 failure to thrive HP:0001508
7 splenomegaly HP:0001744
8 eosinophilia HP:0001880
9 lymphopenia HP:0001888
10 autoimmune hemolytic anemia HP:0001890
11 diffuse mesangial sclerosis HP:0001967
12 autoimmune thrombocytopenia HP:0001973
13 diarrhea HP:0002014
14 pneumonia HP:0002090
15 asthma HP:0002099
16 hepatomegaly HP:0002240
17 abnormality of pelvic girdle bone morphology HP:0002644
18 recurrent bacterial infections HP:0002718
19 recurrent fungal infections HP:0002841
20 increased ige level HP:0003212
21 recurrent viral infections HP:0004429
22 severe combined immunodeficiency HP:0004430
23 aplasia of the thymus HP:0005359
24 severe b lymphocytopenia HP:0005365
25 absent specific antibody response HP:0005424
26 b lymphocytopenia HP:0010976
27 b-cell lymphoma HP:0012191

Drugs & Therapeutics for Adenosine Deaminase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Adenosine Deaminase Deficiency

Search NIH Clinical Center for Adenosine Deaminase Deficiency

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Adenosine Deaminase Deficiency

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Genetic tests related to Adenosine Deaminase Deficiency:

id Genetic test Affiliating Genes
1 Adenosine Deaminase Deficiency20 ADA
2 Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (scid)20
3 Severe Combined Immunodeficiency Due to Ada Deficiency22

Anatomical Context for Adenosine Deaminase Deficiency

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MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

32
T cells, B cells, Nk cells, Bone marrow, Bone, Liver, Testes, Lung, Myeloid, Spleen, Small intestine, Thyroid, Skin, B lymphoblasts, Fetal liver

Animal Models for Adenosine Deaminase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

36
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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Articles related to Adenosine Deaminase Deficiency:

(show top 50)    (show all 259)
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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UniProtKB/Swiss-Prot genetic disease variations for Adenosine Deaminase Deficiency:

64 (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:

6 (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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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

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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 biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
9.7ADA, PNP
2
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
9.2ITPA, ADA, PNP
3
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
9.2ITPA, ADA, PNP
4
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.0AHCY, ADA, ITPA
5
Show member pathways
7.3OTC, ITPA, ADA, AHCY, PNP, GBA

Compounds for genes affiliated with Adenosine Deaminase Deficiency

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

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1deoxyinosine44 2411.1ADA, PNP
29-(beta-d-arabinofuranosyl)guanine4410.1PNP, ADA
3nelarabine44 1111.1ADA, PNP
42,3-dideoxyadenosine4410.0ADA, PNP
5pentostatin44 61 28 1113.0PNP, ADA
6didanosine44 50 1112.0ADA, PNP
7deoxyguanosine44 2411.0PNP, ADA
8cordycepin4410.0DNTT, ADA
9xanthosine 5-triphosphate44 2410.9ITPA, PNP
10xanthosine44 2410.9ITPA, PNP
11neplanocin a449.9ADA, AHCY
12deoxycytidine44 2410.9PNP, ADA
136 thioguanine449.9ITPA, PNP
14thiopurine449.8PNP, ITPA
152 chloroadenosine449.8ADA, AHCY
16triphosphate44 2410.7ITPA, DNTT
17acyclovir44 1110.7AHCY, PNP
18ribose449.7AHCY, PNP
19parathion44 2410.7DNTT, PNP
20xanthine44 2410.7ADA, PNP
21cytidine44 24 1111.6DNTT, ADA
222-chlorodeoxyadenosine449.6DNTT, ADA, PNP
23fludarabine44 50 1111.6DNTT, ADA, PNP
24allopurinol44 50 1111.5ADA, OTC
25deoxyadenosine44 2410.5ADA, AHCY, PNP
26adenosine28 24 1111.5ADA, AHCY, PNP
275-methylthioadenosine449.5PNP, AHCY, ADA
28hypoxanthine44 24 1111.5PNP, AHCY, ADA
29s-adenosylhomocysteine44 2410.5ADA, AHCY, PNP
30dgtp44 2410.5DNTT, ITPA, PNP
31adenine44 24 1111.4ADA, AHCY, PNP
32inosine monophosphate449.3ITPA, AHCY, PNP
33pyrimidine44 2410.3OTC, ADA, PNP
34pyrophosphate44 2410.2DNTT, ITPA, PNP
35malate449.1OTC, PNP
36hydrogen44 2410.1AHCY, PNP, GBA
37thymidine44 2410.1GBA, PNP, DNTT
38adenylate449.1DNTT, ADA, PNP, GBA
39methotrexate50 44 1111.0GBA, ADA, ITPA, DNTT
40purine nucleoside449.0PNP, AHCY, ADA, DNTT
41inosine44 2410.0PNP, AHCY, ADA, ITPA
42ribavirin44 50 1111.0ITPA, ADA, AHCY, PNP
43nucleoside449.0PNP, AHCY, ADA, DNTT
44cysteine448.8ADA, AHCY, PNP, GBA
45Water248.8GBA, AHCY, ADA, ITPA
46lactate448.7PNP, ADA, DNTT, OTC
47aspartate448.7PNP, ADA, DNTT, OTC
48creatinine448.6OTC, ADA, PNP
49purine44 249.5DNTT, ITPA, ADA, AHCY, PNP
50atp44 289.1PNP, AHCY, ADA, DNTT, OTC

GO Terms for genes affiliated with Adenosine Deaminase Deficiency

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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:0466389.8PNP, ADA
2purine-containing compound salvageGO:0431019.7ADA, PNP
3purine nucleobase metabolic processGO:0061449.6ADA, PNP
4negative regulation of inflammatory responseGO:0507289.3ADA, GBA
5nucleobase-containing small molecule metabolic processGO:0550869.3ITPA, ADA, PNP
6liver developmentGO:0018899.3OTC, ADA
7small molecule metabolic processGO:0442817.4OTC, GBA, PNP, AHCY, ADA, ITPA

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

Sources for Adenosine Deaminase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet