MCID: ADN001
MIFTS: 52

Adenosine Deaminase Deficiency malady

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

Aliases & Classifications for Adenosine Deaminase Deficiency

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 9Disease Ontology, 19GeneReviews, 43Novoseek, 60UMLS, 10diseasecard, 20GeneTests, 47Orphanet, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
See all sources

Adenosine Deaminase Deficiency, Aliases & Descriptions:

Name: Adenosine Deaminase Deficiency 9 19 41 21 43 60
Ada Deficiency 19 41 21 47
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 41 47 60
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 41 20 21
Ada-Scid 19 41 21
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 41 21
Severe Combined Immunodeficiency Due to Ada Deficiency 41 21
 
Scid Due to Adenosine Deaminase Deficiency 41 47
Scid Due to Ada Deficiency 41 21
Adenosine Deaminase 10 20
Scid Due to Ada Deficiency, Early-Onset 60
Partial Adenosine Deaminase Deficiency 60
Ada 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
ada deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Disease Ontology9 DOID:5810
NCIt38 C3962
MeSH33 C531816
Orphanet47 277
ICD10 via Orphanet26 D81.3
UMLS via Orphanet61 C0392607
MESH via Orphanet34 C531816
ICD1025 D81.3

Summaries for Adenosine Deaminase Deficiency

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NIH Rare Diseases:41 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 ada deficiency, is related to severe combined immunodeficiency and primary immunodeficiency disease. 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 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: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.

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.

Wikipedia:63 Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID, is an autosomal... more...

GeneReviews summary for ada

Related Diseases for Adenosine Deaminase Deficiency

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Diseases related to Adenosine Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 219)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency31.5PNP, AHCY, ADA
2primary immunodeficiency disease30.7PNP
3gaucher's disease30.6ADA, GBA
4chronic granulomatous disease30.5ADA, OTC
5rheumatoid arthritis30.4DNTT, PNP, ADA
6chronic lymphocytic leukemia30.4DNTT, PNP, ADA
7leukemia28.7GBA, PNP, AHCY, DNTT, OTC, ADA
8arthritis10.6
9severe combined immunodeficiency due to ada deficiency10.5
10lupus erythematosus10.5
11systemic lupus erythematosus10.5
12breast cancer10.5
13hepatitis10.5
14delayed-/late-onset adenosine deaminase deficiency10.5
15peritonitis10.4
16tuberculosis10.4
17hiv-110.4
18measles10.4
19eclampsia10.4
20pleurisy10.4
21hematopoietic stem cell transplantation10.4
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
31hemolytic anemia due to erythrocyte adenosine deaminase overproduction10.3
32tuberculous peritonitis10.3
33hemolytic anemia10.3
34pulmonary tuberculosis10.3
35meningitis10.3
36pericarditis10.3
37cartilage-hair hypoplasia10.3
38hodgkin lymphoma10.3
39chromophobe renal cell carcinoma10.3
40diamond-blackfan anemia10.3
41mycosis fungoides10.3
42gastric ulcer10.3
43duodenitis10.3
44gastritis10.3
45laryngitis10.3
46lymphoblastic leukemia10.3
47monocytic leukemia10.3
48gaucher disease, type i10.2ADA, GBA
49dyschromatosis symmetrica hereditaria10.2
50macroglobulinemia10.2

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

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

Anatomical Context for Adenosine Deaminase Deficiency

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MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

31
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:

35
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:

6 (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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
guanosine nucleotides de novo biosynthesis36
guanosine ribonucleotides de novo biosynthesis36
adenosine ribonucleotides de novo biosynthesis36
purine nucleotides de novo biosynthesis36
9.7ADA, PNP
2
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.2ITPA, ADA, PNP
3
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.2ITPA, ADA, PNP
4
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
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 Suite gene sharing:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1deoxyinosine43 2411.1PNP, ADA
29-(beta-d-arabinofuranosyl)guanine4310.1ADA, PNP
3nelarabine43 1211.1PNP, ADA
42,3-dideoxyadenosine4310.0PNP, ADA
5pentostatin43 59 28 1213.0PNP, ADA
6didanosine43 49 1212.0ADA, PNP
7deoxyguanosine43 2411.0PNP, ADA
8cordycepin4310.0DNTT, ADA
9xanthosine43 2410.9ITPA, PNP
10xanthosine 5-triphosphate43 2410.9PNP, ITPA
11neplanocin a439.9ADA, AHCY
12deoxycytidine43 2410.9ADA, PNP
136 thioguanine439.9ITPA, PNP
14thiopurine439.8ITPA, PNP
152 chloroadenosine439.8AHCY, ADA
16triphosphate43 2410.7ITPA, DNTT
17acyclovir43 1210.7PNP, AHCY
18ribose439.7PNP, AHCY
19parathion43 2410.7PNP, DNTT
20cytidine43 24 1211.6ADA, DNTT
212-chlorodeoxyadenosine439.6DNTT, PNP, ADA
22fludarabine43 49 1211.6PNP, DNTT, ADA
23allopurinol43 49 1211.5ADA, OTC
24deoxyadenosine43 2410.5PNP, ADA, AHCY
25adenosine28 24 1211.5PNP, AHCY, ADA
265-methylthioadenosine439.5PNP, AHCY, ADA
27hypoxanthine43 24 1211.5PNP, ADA, AHCY
28s-adenosylhomocysteine43 2410.5ADA, PNP, AHCY
29dgtp43 2410.5PNP, ITPA, DNTT
30adenine43 24 1211.4PNP, ADA, AHCY
31xanthine43 2410.4PNP, ADA
32inosine monophosphate439.3ITPA, PNP, AHCY
33pyrimidine43 2410.3PNP, ADA, OTC
34pyrophosphate43 2410.2PNP, ITPA, DNTT
35malate439.1OTC, PNP
36hydrogen43 2410.1AHCY, GBA, PNP
37thymidine43 2410.1DNTT, PNP, GBA
38adenylate439.1GBA, PNP, DNTT, ADA
39methotrexate49 43 1211.0GBA, ADA, ITPA, DNTT
40purine nucleoside439.0AHCY, DNTT, ADA, PNP
41inosine43 2410.0ITPA, PNP, AHCY, ADA
42ribavirin43 49 1211.0ITPA, AHCY, PNP, ADA
43nucleoside439.0PNP, ADA, DNTT, AHCY
44creatinine438.9PNP, OTC, ADA
45cysteine438.8PNP, AHCY, ADA, GBA
46Water248.8AHCY, GBA, ITPA, ADA
47lactate438.7PNP, ADA, DNTT, OTC
48aspartate438.7DNTT, ADA, PNP, OTC
49purine43 249.5AHCY, DNTT, ITPA, ADA, PNP
50atp43 289.1AHCY, OTC, PNP, DNTT, ADA

GO Terms for genes affiliated with Adenosine Deaminase Deficiency

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Biological processes related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet