MCID: ADN001
MIFTS: 61

Adenosine Deaminase Deficiency malady

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

Summaries for Adenosine Deaminase Deficiency

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NIH Rare Diseases:43 Adenosine deaminase deficiency (ada) is an inherited condition that affects the immune system and typically leads to severe combined immunodeficiency (scid). people with scid have a reduced or absent immune response which leaves them vulnerable to frequent bacterial, viral, and fungal infections. most people affected by ada develop symptoms of the condition before 6 months of age. however, approximately 10-15% of affected people have a "delayed" onset of symptoms; diagnosis of these cases, which are often less severe, typically takes place later in childhood (often between age 1 and 10) or even into adulthood. signs and symptoms of ada include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth and/or developmental delay. ada is caused by changes (mutations) in the ada gene and is inherited in an autosomal recessive manner. the most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person.[8061 last updated: 1/4/2015

MalaCards based summary: Adenosine Deaminase Deficiency, also known as adenosine deaminase deficient severe combined immunodeficiency, is related to severe combined immunodeficiency and rheumatoid arthritis. 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 bone, t cells and b cells, and related mouse phenotypes are mortality/aging and immune system.

Disease Ontology:10 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.

Genetics Home Reference:23 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.

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

GeneReviews summary for ada

Aliases & Classifications for Adenosine Deaminase Deficiency

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Sources:
43NIH Rare Diseases, 23Genetics Home Reference, 62UMLS, 10Disease Ontology, 21GeneReviews, 45Novoseek, 11diseasecard, 22GeneTests, 49Orphanet, 57SNOMED-CT, 40NCIt, 35MeSH, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 27ICD10
See all sources

Adenosine Deaminase Deficiency, Aliases & Descriptions:

Name: Adenosine Deaminase Deficiency 10 21 43 23 45 62
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 43 22 23 62
Ada Deficiency 21 43 23 49
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 43 23 62
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 43 49 62
Ada-Scid 21 43 23
 
Severe Combined Immunodeficiency Due to Ada Deficiency 43 23
Scid Due to Adenosine Deaminase Deficiency 43 49
Scid Due to Ada Deficiency 43 23
Adenosine Deaminase 11 22
Severe Combined Immunodeficiency 62
Ada 10


Classifications:



Characteristics (Orphanet epidemiological data):

49
ada deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology10 DOID:5810
NCIt40 C3962
MeSH35 C531816
Orphanet49 277
ICD10 via Orphanet28 D81.3
UMLS via Orphanet63 C0392607
MESH via Orphanet36 C531816
ICD1027 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 217)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency31.6ADA, AHCY, PNP
2rheumatoid arthritis30.8DNTT, ADA, PNP
3chronic lymphocytic leukemia30.4DNTT, ADA, PNP
4gaucher's disease30.4ADA, GBA
5chronic granulomatous disease30.3ADA, OTC
6primary immunodeficiency disease30.2PNP
7leukemia29.7GBA, PNP, AHCY, ADA, DNTT, OTC
8arthritis10.6
9severe combined immunodeficiency due to ada deficiency10.5
10lupus erythematosus10.5
11systemic lupus erythematosus10.5
12breast cancer10.5
13hepatitis10.5
14peritonitis10.4
15tuberculosis10.4
16hiv-110.4
17measles10.4
18eclampsia10.4
19pleurisy10.4
20hematopoietic stem cell transplantation10.4
21delayed-/late-onset adenosine deaminase deficiency10.4
22sneddon syndrome10.3
23panic disorder10.3
24liver cirrhosis10.3
25acquired immunodeficiency syndrome10.3
26pneumonia10.3
27pre-eclampsia10.3
28psoriasis10.3
29t-cell leukemia10.3
30mesothelioma10.3
31tuberculous peritonitis10.3
32hemolytic anemia10.3
33pulmonary tuberculosis10.3
34meningitis10.3
35pericarditis10.3
36cartilage-hair hypoplasia10.3
37hodgkin lymphoma10.3
38childhood type dermatomyositis10.3
39diamond-blackfan anemia10.3
40mycosis fungoides10.3
41gastric ulcer10.3
42duodenitis10.3
43gastritis10.3
44laryngitis10.3
45lymphoblastic leukemia10.3
46monocytic leukemia10.3
47hemolytic anemia due to erythrocyte adenosine deaminase overproduction10.3
48dyschromatosis symmetrica hereditaria10.2
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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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-RT41:

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 Deficiency22 ADA
2 Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (scid)22

Anatomical Context for Adenosine Deaminase Deficiency

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MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

33
Bone, T cells, B cells, Bone marrow, Skin, Nk cells, Liver, Testes, Lung, Myeloid, Spleen, Small intestine, Thyroid, 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:

37
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 256)
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
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. (17614781)
2007
11
Severe combined immune deficiency in an adenosine deaminase-deficient patient. (16724639)
2006
12
Gene therapy for adenosine deaminase deficiency]. (15773344)
2005
13
Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. (16263974)
2005
14
Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation. (15705418)
2005
15
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. (14760277)
2004
16
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
17
New models for the study of adenosine deaminase deficiency. (9598108)
1998
18
High-efficiency gene transfer into normal and adenosine deaminase-deficient T lymphocytes is mediated by transduction on recombinant fibronectin fragments. (9573255)
1998
19
Generation of normal lymphocyte populations following transplantation of adenosine-deaminase-deficient fetal liver cells. (9193758)
1997
20
Adenosine deaminase deficiency in adults. (9108404)
1997
21
Insights into thymic purine metabolism and adenosine deaminase deficiency revealed by transgenic mice overexpressing ecto-5'-nucleotidase (CD73). (9045870)
1997
22
Full genetic rescue of adenosine deaminase-deficient mice through introduction of the human gene. (8894685)
1996
23
Bone marrow gene transfer in three patients with adenosine deaminase deficiency. (8867866)
1996
24
Gene therapy for adenosine deaminase deficiency. (7767649)
1995
25
Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. (8120281)
1994
26
Adenosine Deaminase Deficiency (20301656)
1993
27
Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA). (8167743)
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
Hot spot mutations in adenosine deaminase deficiency. (2166947)
1990
33
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
34
Rejection of bone marrow transplant and resistance of alloantigen reactive cells to in vivo deoxyadenosine in adenosine deaminase deficiency. (2971490)
1988
35
Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. (3260944)
1988
36
Adenosine deaminase deficiency. (3108284)
1987
37
Complete and partial adenosine deaminase deficiency. Relationship of immune function to metabolite concentrations, enzyme activity, and effects of therapy. (3907453)
1985
38
Iron overload as a result of transfusion therapy in a patient with adenosine deaminase deficiency. (3982555)
1985
39
Abnormalities in S-adenosylhomocysteine hydrolysis, ATP catabolism, and lymphoid differentiation in adenosine deaminase deficiency. (3865575)
1985
40
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
41
HLA typing of amniotic fluid cells for the prenatal determination of therapeutic transplantation options for a fetus affected with adenosine deaminase deficiency. (6351373)
1983
42
Abnormal platelet aggregation in severe combined immunodeficiency disease with adenosine deaminase deficiency. (678472)
1978
43
Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes. (930931)
1977
44
Adenosine deaminase deficiency and severe combined immunodeficiency disease. (195170)
1977
45
Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency. (947948)
1976
46
Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme. (1061119)
1976
47
Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973. (1089440)
1975
48
Severe combined immunodeficiency and adenosine deaminase deficiency. (1089883)
1975
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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Clinvar genetic disease variations for Adenosine Deaminase Deficiency:

7 (show all 25)
id Gene Variation 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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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 biosynthesis38
guanosine ribonucleotides de novo biosynthesis38
adenosine ribonucleotides de novo biosynthesis38
purine nucleotides de novo biosynthesis38
9.7ADA, PNP
2
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.2ITPA, ADA, PNP
3
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.2ITPA, ADA, PNP
4
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
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
1deoxyinosine45 2611.1ADA, PNP
29-(beta-d-arabinofuranosyl)guanine4510.1PNP, ADA
3nelarabine45 1311.1ADA, PNP
42,3-dideoxyadenosine4510.0ADA, PNP
5pentostatin45 61 30 1313.0PNP, ADA
6didanosine45 51 1312.0ADA, PNP
7deoxyguanosine45 2611.0PNP, ADA
8cordycepin4510.0DNTT, ADA
9xanthosine 5-triphosphate45 2610.9ITPA, PNP
10xanthosine45 2610.9ITPA, PNP
11neplanocin a459.9ADA, AHCY
12deoxycytidine45 2610.9PNP, ADA
136 thioguanine459.9ITPA, PNP
14thiopurine459.8PNP, ITPA
152 chloroadenosine459.8ADA, AHCY
16triphosphate45 2610.7ITPA, DNTT
17acyclovir45 1310.7AHCY, PNP
18ribose459.7AHCY, PNP
19parathion45 2610.7DNTT, PNP
20xanthine45 2610.7ADA, PNP
21cytidine45 26 1311.6DNTT, ADA
222-chlorodeoxyadenosine459.6DNTT, ADA, PNP
23fludarabine45 51 1311.6DNTT, ADA, PNP
24allopurinol45 51 1311.5ADA, OTC
25deoxyadenosine45 2610.5ADA, AHCY, PNP
26adenosine30 26 1311.5ADA, AHCY, PNP
275-methylthioadenosine459.5PNP, AHCY, ADA
28hypoxanthine45 26 1311.5PNP, AHCY, ADA
29s-adenosylhomocysteine45 2610.5ADA, AHCY, PNP
30dgtp45 2610.5DNTT, ITPA, PNP
31adenine45 26 1311.4ADA, AHCY, PNP
32inosine monophosphate459.3ITPA, AHCY, PNP
33pyrimidine45 2610.3OTC, ADA, PNP
34pyrophosphate45 2610.2DNTT, ITPA, PNP
35malate459.1OTC, PNP
36hydrogen45 2610.1AHCY, PNP, GBA
37thymidine45 2610.1GBA, PNP, DNTT
38adenylate459.1DNTT, ADA, PNP, GBA
39methotrexate51 45 1311.0GBA, ADA, ITPA, DNTT
40purine nucleoside459.0PNP, AHCY, ADA, DNTT
41inosine45 2610.0PNP, AHCY, ADA, ITPA
42ribavirin45 51 1311.0ITPA, ADA, AHCY, PNP
43nucleoside459.0PNP, AHCY, ADA, DNTT
44cysteine458.8ADA, AHCY, PNP, GBA
45Water268.8GBA, AHCY, ADA, ITPA
46lactate458.7PNP, ADA, DNTT, OTC
47aspartate458.7PNP, ADA, DNTT, OTC
48creatinine458.6OTC, ADA, PNP
49purine45 269.5DNTT, ITPA, ADA, AHCY, PNP
50atp45 309.1PNP, 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:00466389.8PNP, ADA
2purine-containing compound salvageGO:00431019.7ADA, PNP
3purine nucleobase metabolic processGO:00061449.6ADA, PNP
4negative regulation of inflammatory responseGO:00507289.3ADA, GBA
5nucleobase-containing small molecule metabolic processGO:00550869.3ITPA, ADA, PNP
6liver developmentGO:00018899.3OTC, ADA
7small molecule metabolic processGO:00442817.4OTC, GBA, PNP, AHCY, ADA, ITPA

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

idNameGO IDScoreTop Affiliating Genes
1phosphate ion bindingGO:00423019.2OTC, PNP

Products for genes affiliated with Adenosine Deaminase Deficiency

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Sources for Adenosine Deaminase Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet