ADA
MCID: ADN001
MIFTS: 76

Adenosine Deaminase Deficiency (ADA) malady

Immune diseases, Metabolic diseases, Blood diseases categories

Summaries for Adenosine Deaminase Deficiency

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 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 nucleotides degradation II (aerobic) and Antimetabolite Pathway - Folate Cycle, Pharmacodynamics. The drug pegademase bovine and the compounds deoxyinosine and 5-amino-5-deoxyadenosine have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and nk cells, and related mouse phenotypes are respiratory system and mortality/aging.

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:63 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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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 60UMLS, 9diseasecard, 20GeneTests, 48Orphanet, 22GTR, 46OMIM, 56SNOMED-CT, 39NCIt, 34MeSH, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


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


Aliases & Descriptions:

adenosine deaminase deficiency 8 19 42 21 44 60
severe combined immunodeficiency due to ada deficiency 42 22 21 46
ada deficiency 19 42 21 48
adenosine deaminase deficient severe combined immunodeficiency 42 20 21
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 21 60
scid due to ada deficiency 42 21
adenosine deaminase 9 20
ada-scid 42 21
severe combined immunodeficiency due to adenosine deaminase deficiency 48
scid due to adenosine deaminase deficiency 48
deficiency of adenosine deaminase 8
severe combined immunodeficiency 60
ada 8


External Ids:

Disease Ontology8 DOID:5810
NCIt39 C3962
OMIM46 102700
MeSH34 C531816
SNOMED-CT via Orphanet57 44940001
MESH via Orphanet35 C531816
ICD10 via Orphanet26 D81.3
UMLS via Orphanet61 C0392607

Related Diseases for Adenosine Deaminase Deficiency

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17GeneCards, 18GeneDecks
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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 400)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency31.5AHCY, PNP, ADA
2purine nucleoside phosphorylase deficiency30.7AHCY, ADA
3acute leukemia30.6DNTT, DCK
4tuberculosis30.3PNP, ADK, ADA
5herpes simplex30.3DCK, DNTT, GBA, PNP
6hemolytic anemia30.3ADK, ADA
7burkitt's lymphoma30.2BCL2, ADA
8chronic granulomatous disease30.2ADA, OTC
9autoimmune thyroiditis30.2DCK, PNP
10primary immunodeficiency disease30.1PNP
11alzheimer's disease30.1DNTT
12gaucher's disease30.1ADA, GBA
13hairy cell leukemia30.1DCK, ADA
14leukemia30.0BCL2, DCK, OTC, PNP, GBA, AHCY
15myeloid leukemia30.0DNTT, BCL2
16myeloma30.0BCL2, DNTT
17rheumatoid arthritis30.0DNTT, PNP, ADA
18acute lymphocytic leukemia30.0PNP, DCK, ADA, DNTT, BCL2
19psoriasis29.9PNP
20pancreatitis29.9ITPA
21dementia29.9GBA
22thymoma29.9DNTT
23lung cancer29.9BCL2
24toxoplasmosis29.9ADK
25cutaneous t cell lymphoma29.9ADA, PNP
26t-cell leukemia29.9PNP, BCL2, ADA
27sarcoma29.9DCK, GBA, ADA
28chronic myeloid leukemia29.8DNTT, PNP, BCL2, ADA
29non-hodgkin lymphoma29.8DNTT, BCL2, ADA, PNP
30chronic lymphocytic leukemia29.8BCL2, PNP, DCK, ADA, DNTT
31pancytopenia29.6GBA
32gamma chain deficiency10.8
33t cell deficiency10.7
34t lymphocyte deficiency10.6
35b cell deficiency10.5
36zap70-related severe combined immunodeficiency10.5
37achondroplasia and severe combined immunodeficiency10.5
38severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
39severe combined immunodeficiency, athabascan type10.5
40partial adenosine deaminase deficiency10.5
41severe combined immunodeficiency with sensitivity to ionizing radiation10.4
42hepatitis10.4
43x-linked disease10.4
44severe combined immunodeficiency due to lck deficiency10.4
45severe combined immunodeficiency, atypical10.3
46immunodeficiency 810.3
47severe combined immunodeficiency due to dna-pkcs deficiency10.3
48hepatitis a10.3
49delayed-/late-onset adenosine deaminase deficiency10.3
50peritonitis10.3

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



Diseases related to adenosine deaminase deficiency

Clinical Features for Adenosine Deaminase Deficiency

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46OMIM
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Clinical features from OMIM:

102700

Clinical synopsis from OMIM:

102700

Drugs & Therapeutics for Adenosine Deaminase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

Genetic Tests for Adenosine Deaminase Deficiency

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

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

Animal Models for Adenosine Deaminase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.7ADA, ADK, BCL2, GBA, ITPA
2MP:00107687.2ITPA, GBA, PNP, OTC, BCL2, ADK
3MP:00053877.1DCK, DNTT, GBA, PNP, BCL2, ADA
4MP:00053976.9GBA, DNTT, DCK, ITPA, ADA, BCL2
5MP:00053846.8ITPA, DCK, DNTT, GBA, PNP, OTC

Publications for Adenosine Deaminase Deficiency

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50PubMed
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Articles related to Adenosine Deaminase Deficiency:

(show top 50)    (show all 282)
idTitleAuthorsYear
1
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. (22350222)
2012
2
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. (22622038)
2012
3
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. (22791287)
2012
4
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. (20493398)
2010
5
RNA adenosine deaminase ADAR1 deficiency leads to increased activation of protein kinase PKR and reduced vesicular stomatitis virus growth following interferon treatment. (19913273)
2010
6
Late-onset adenosine deaminase deficiency presenting with Heck's disease. (20039061)
2010
7
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. (19665771)
2009
8
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. (19337228)
2009
9
Neurologic abnormalities in patients with adenosine deaminase deficiency. (17765813)
2007
10
Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. (16263974)
2005
11
Impaired germinal center maturation in adenosine deaminase deficiency. (14607964)
2003
12
Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy. (11860709)
2002
13
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. (11807006)
2002
14
Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. (11160213)
2001
15
Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. (11445793)
2001
16
Carrier erythrocyte entrapped adenosine deaminase therapy in adenosine deaminase deficiency. (11783525)
2000
17
Adenosine deaminase deficiency]. (11212730)
2000
18
Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction. (10899903)
2000
19
Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures. (11067867)
2000
20
Inhibition of fetal thymic caspases abrogates the consequences of adenosine deaminase deficiency. (11783529)
2000
21
Adenosine deaminase deficiency as the first target disorder in gene therapy. (11060694)
2000
22
Amendment to Clinical Research Project. Project 90-C-195. April 1, 1993. Treatment of severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency with autologous lymphocytes transduced with a human ADA gene. (10048399)
1999
23
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
24
Adenosine deaminase deficiency]. (9833480)
1998
25
SCID: the role of adenosine deaminase deficiency. (9267078)
1997
26
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. (9225964)
1997
27
Keratinocyte gene therapy for adenosine deaminase deficiency: a model approach for inherited metabolic disorders. (9195213)
1997
28
Genetic manipulation of hematopoietic stem cells in adenosine deaminase deficiency. (7660937)
1994
29
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. (8023852)
1994
30
Molecular basis of adenosine deaminase deficiency. (8032366)
1994
31
IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. (1569204)
1992
32
Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID). (1749685)
1991
33
Effects of deoxyadenosine on ribonucleotide reductase in adenosine deaminase-deficient lymphocytes. (1830628)
1991
34
First trimester diagnosis of adenosine deaminase deficiency. (3120171)
1987
35
Towards gene therapy for adenosine deaminase deficiency. (3471172)
1986
36
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
37
Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines. (3871777)
1985
38
Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency. (6983936)
1982
39
Testing newborns for adenosine deaminase deficiency not cost effective. (6795506)
1981
40
Ecto-5'-nucleotidase deficiency: association with adenosine deaminase deficiency and nonassociation with deoxyadenosine toxicity. (6260402)
1981
41
Adenosine deaminase deficiency and severe combined immunodeficiency disease. (6255772)
1980
42
Severe combined immunodeficiency disease with adenosine deaminase deficiency. (494270)
1979
43
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. (272665)
1978
44
Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation. (372236)
1978
45
Purine metabolism in adenosine deaminase deficiency. (387357)
1978
46
Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency. (736910)
1978
47
Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes. (930931)
1977
48
Purine metabolism in adenosine deaminase deficiency. (1066699)
1976
49
Letter: Severe combined immunodeficiency and adenosine-deaminase deficiency. (4127604)
1973
50
Adenosine-deaminase deficiency and combined immunodeficiency syndrome. (4117846)
1972

Genetic Variations for Adenosine Deaminase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Adenosine Deaminase Deficiency:

62 (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

Expression for genes affiliated with Adenosine Deaminase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 49PharmGKB, 53Reactome, 29KEGG, 12EMD Millipore
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Pathways related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9ADA, PNP
2
Hide members
9.1ADK, AHCY, ITPA
3
Hide members
8.4ADK, ITPA, DCK, ADA, PNP
4
Hide members
8.4ADK, DCK, ADA, ITPA, PNP
5
Hide members
8.4ADA, GBA, PNP, OTC, ADK

Compounds for genes affiliated with Adenosine Deaminase Deficiency

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 94)
idCompoundScoreTop Affiliating Genes
1deoxyinosine44 2411.1ADA, PNP
25-amino-5-deoxyadenosine449.9ADK, ADA
3neplanocin a449.8ADA, AHCY
49-(beta-d-arabinofuranosyl)guanine449.8DCK, ADA, PNP
5nelarabine44 1110.8ADA, DCK, PNP
6xanthosine44 2410.8PNP, ITPA
78-phenyltheophylline449.8ADK, ADA
8cordycepin449.8DNTT, ADA
9tubercidin449.8ADK, AHCY
108-cyclopentyltheophylline449.8ADA, ADK
11n6-cyclopentyladenosine44 5910.7ADK, ADA
12xanthosine 5-triphosphate44 2410.7ITPA, PNP
136 thioguanine449.7PNP, ITPA, DCK
14nitrobenzylthioinosine449.6ADA, ADK
15deoxynucleoside449.5ADA, ADK, DCK
16vidarabine44 1110.5ADK, DCK, ADA
17triphosphate44 2410.5ITPA, DNTT, DCK
18ribose449.5PNP, ADK, AHCY
19cytidine44 11 2411.4DNTT, DCK, ADA
20parathion44 2410.4PNP, DCK, DNTT
21xanthine44 2410.4ADK, ADA, PNP
22prpp449.4DCK, PNP, ADK
23dipyridamole44 59 28 1112.4ADK, DCK, ADA
24erythro-9-(2 hydroxy 3-nonyl)adenine449.3ADA, ADK
255-methylthioadenosine449.2ADA, ADK, PNP, AHCY
26hypoxanthine44 11 2411.2AHCY, PNP, ADA, ADK
27dgtp44 2410.2PNP, DNTT, DCK, ITPA
28pentostatin44 59 28 1112.2DCK, ADK, ADA, PNP
29deoxyguanosine44 2410.2DCK, PNP, ADA, ADK
30s-adenosylhomocysteine44 2410.2PNP, AHCY, ADK, ADA
31deoxycytidine44 2410.2ADA, PNP, DCK, ADK
32inosine monophosphate449.1PNP, AHCY, ITPA, ADK
33adenine44 11 2411.1PNP, ADA, ADK, AHCY
34guanosine44 11 2411.1ADA, ADK, PNP, DCK
352 chloroadenosine449.1AHCY, ADK, DCK, ADA
36inosine44 249.9ADA, ITPA, AHCY, PNP, ADK
37ribavirin44 49 1110.9PNP, ADK, AHCY, ITPA, ADA
38methotrexate44 49 1110.9ADA, GBA, DNTT, DCK, ITPA
39deoxyadenosine44 249.8ADA, ADK, PNP, AHCY, DCK
40adenosine28 11 2410.8ADK, DCK, AHCY, PNP, ADA
41pyrimidine44 249.7OTC, PNP, DCK, ADA, ADK
425fluorouracil448.6DCK, BCL2, OTC, PNP
43pyrophosphate44 249.5DCK, ADK, PNP, ITPA, DNTT
442-chlorodeoxyadenosine448.5ADA, BCL2, PNP, DNTT, DCK
45fludarabine44 119.5DNTT, BCL2, ADA, DCK, PNP
46purine nucleoside448.3ADK, DNTT, AHCY, PNP, ADA, DCK
47nucleoside448.3DCK, AHCY, ADA, ADK, PNP, DNTT
48adenylate448.3PNP, ADK, DCK, DNTT, GBA, ADA
49purine44 248.9ADK, PNP, ITPA, AHCY, DNTT, DCK
50atp44 288.7OTC, DCK, ADA, DNTT, ADK, PNP

GO Terms for genes affiliated with Adenosine Deaminase Deficiency

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16Gene Ontology
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Cellular components related to Adenosine Deaminase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.2ADA, ADK, BCL2, PNP, AHCY, DCK

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of alpha-beta T cell differentiationGO:0466389.9PNP, ADA
2positive regulation of T cell proliferationGO:0421029.5PNP, ADK
3positive regulation of B cell proliferationGO:0308909.4BCL2, ADA
4response to hydrogen peroxideGO:0425429.3BCL2, ADA
5purine-containing compound salvageGO:0431019.0DCK, PNP, ADK, ADA
6purine nucleobase metabolic processGO:0061448.9ADA, ADK, PNP, DCK
7nucleobase-containing small molecule metabolic processGO:0550868.6DCK, PNP, ADK, ADA, ITPA
8response to drugGO:0424938.5BCL2, PNP, OTC
9small molecule metabolic processGO:0442817.2PNP, GBA, AHCY, DCK, ITPA, OTC

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

idNameGO IDScoreTop Affiliating Genes
1phosphotransferase activity, alcohol group as acceptorGO:0167739.4ADK, DCK
2phosphate ion bindingGO:0423019.3OTC, PNP

Products for genes affiliated with Adenosine Deaminase Deficiency

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet