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:00053887.7ITPA, GBA, BCL2, ADK, ADA
2MP:00107687.2ADA, ADK, BCL2, OTC, PNP, GBA
3MP:00053877.1DCK, DNTT, GBA, PNP, OTC, BCL2
4MP:00053976.9ADA, ITPA, DCK, DNTT, GBA, PNP
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
Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. (23335557)
2013
2
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. (23280131)
2013
3
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. (22262755)
2012
4
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. (22969765)
2012
5
Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069. (22262756)
2012
6
Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. (21531016)
2011
7
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. (21725047)
2011
8
Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. (19018008)
2008
9
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. (17181544)
2007
10
Severe combined immune deficiency in an adenosine deaminase-deficient patient. (16724639)
2006
11
Genotype is an important determinant of phenotype in adenosine deaminase deficiency. (14499267)
2003
12
Gene therapy for adenosine deaminase deficiency. (10774451)
2000
13
Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination. (10079104)
1999
14
New models for the study of adenosine deaminase deficiency. (9598108)
1998
15
Food allergy in a patient with adenosine deaminase deficiency undergoing enzyme replacement with polyethylene glycol-modified adenosine deaminase. (9564814)
1998
16
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. (9414266)
1998
17
Clinical study of gene therapy for adenosine deaminase deficiency]. (8831166)
1996
18
Gene therapy for adenosine deaminase deficiency]. (8727372)
1996
19
p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency. (7667298)
1995
20
Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency. (7914248)
1994
21
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. (8178821)
1994
22
Adenosine Deaminase Deficiency (20301656)
1993
23
Bone marrow gene therapy for adenosine deaminase deficiency. (7909479)
1993
24
The effect of enzyme replacement on red cell adenine deoxyribonucleotides in adenosine deaminase-deficient erythrocytes of the opossum, Didelphis virginiana. (8281757)
1993
25
Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency. (1468454)
1992
26
Treatment of adenosine deaminase deficiency with adenosine deaminase combined with polyethylene glycol]. (1497422)
1992
27
Genetic correction of cultured T cells from an adenosine deaminase-deficient patient: characteristics of non-transduced and transduced T cells. (1730260)
1992
28
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
29
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). (1680289)
1991
30
Severe combined immunodeficiency disease, adenosine deaminase deficiency and gene therapy. (1755981)
1991
31
HLA-haploidentical bone marrow transplantation in three infants with adenosine deaminase deficiency: stable immunological reconstitution and reversal of skeletal abnormalities. (2591400)
1989
32
Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. (3260944)
1988
33
Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. (3436096)
1987
34
Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi. (3950935)
1986
35
Lack of adenosine deaminase deficiency in the mutant mouse wasted. (3780980)
1986
36
Prenatal diagnosis of three cases of severe combined immunodeficiency: severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency. (6610509)
1984
37
Complete adenosine deaminase (ADA) deficiency without immunodeficiency, and primary hyperoxaluria, in a 12-year-old boy. (6968500)
1980
38
Acquired hemoglobin H disease associated with idiopathic myelofibrosis and hereditary adenosine deaminase deficiency. (7415771)
1980
39
Amerioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency. (6156414)
1980
40
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. (108044)
1978
41
Clinical delineation of adenosine deaminase deficiency. (387358)
1978
42
Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency. (627115)
1978
43
Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. (108039)
1978
44
Adenosine deaminase and purine nucleoside phosphorylase deficiency: how they were discovered and what they may mean. (115664)
1978
45
Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency. (308999)
1978
46
Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. (980079)
1976
47
Purine dysfunction in cells from patients with adenosine deaminase deficiency. (132630)
1976
48
Hereditary sever combined immunodeficiency and adenosine deaminase deficiency. (1246464)
1976
49
Adenosine-deaminase deficiency in a child diagnosed prenatally. (46025)
1975
50
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. (4117384)
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, 29KEGG, 12EMD Millipore, 53Reactome
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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
9.1ITPA, AHCY, ADK
3
Hide members
8.4ITPA, DCK, PNP, ADK, ADA
4
Hide members
8.4ADA, ADK, PNP, DCK, ITPA
5
Hide members
8.4ADA, ADK, OTC, PNP, GBA

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-deoxyadenosine449.9ADA, ADK
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
98-cyclopentyltheophylline449.8ADA, ADK
10tubercidin449.7AHCY, ADK
11n6-cyclopentyladenosine44 5910.7ADK, ADA
12xanthosine 5-triphosphate44 2410.7ITPA, PNP
136 thioguanine449.7PNP, DCK, ITPA
145-iodotubercidin44 59 1111.6ADA, ADK
15deoxynucleoside449.5ADA, ADK, DCK
16vidarabine44 1110.5DCK, ADK, ADA
17triphosphate44 2410.5ITPA, DCK, DNTT
18ribose449.5AHCY, ADK, PNP
19cytidine44 11 2411.4DNTT, DCK, ADA
20parathion44 2410.4PNP, DNTT, DCK
21xanthine44 2410.4ADK, ADA, PNP
22prpp449.4PNP, DCK, 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 2410.2AHCY, PNP, ADK, ADA
31deoxycytidine44 2410.2ADA, PNP, DCK, ADK
32inosine monophosphate449.1PNP, AHCY, ITPA, ADK
33adenine44 11 2411.1ADA, ADK, AHCY, PNP
34guanosine44 11 2411.1ADK, ADA, 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
425fluorouracil448.6BCL2, DCK, OTC, PNP
43pyrophosphate44 249.5ITPA, PNP, ADK, DNTT, DCK
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, GBA, DNTT, ADK, ADA, DCK
49purine44 248.9ADK, PNP, ITPA, AHCY, DNTT, DCK
50atp44 288.7OTC, DCK, DNTT, AHCY, PNP, ADK

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