ADA
MCID: ADN001
MIFTS: 63

Adenosine Deaminase Deficiency (ADA) malady

Immune, Metabolic, Blood categories

Summaries for Adenosine Deaminase Deficiency

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 purine nucleoside phosphorylase deficiency and acute leukemia. 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 bone marrow, spleen and liver, 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:64 Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID, is an autosomal... more...

Description from OMIM:47 102700

GeneReviews summary for ada

Aliases & Classifications for Adenosine Deaminase Deficiency

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 61UMLS, 9diseasecard, 20GeneTests, 49Orphanet, 22GTR, 47OMIM, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 21 45 61
severe combined immunodeficiency due to ada deficiency 43 22 21 47
ada deficiency 19 43 21 49
adenosine deaminase deficient severe combined immunodeficiency 43 20 21
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 21 61
scid due to ada deficiency 43 21
adenosine deaminase 9 20
ada-scid 43 21
severe combined immunodeficiency due to adenosine deaminase deficiency 49
scid due to adenosine deaminase deficiency 49
deficiency of adenosine deaminase 8
severe combined immunodeficiency 61
ada 8


External Ids:

Disease Ontology8 DOID:5810
NCIt40 C3962
OMIM47 102700
MeSH35 C531816
MESH via Orphanet36 C531816
ICD10 via Orphanet26 D81.3
UMLS via Orphanet62 C0392607

Related Diseases for Adenosine Deaminase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 330)
idRelated DiseaseScoreTop Affiliating Genes
1purine nucleoside phosphorylase deficiency30.7ADA, AHCY
2acute leukemia30.6DCK, DNTT
3tuberculosis30.4ADA, ADK, PNP
4chronic granulomatous disease30.2OTC, ADA
5autoimmune thyroiditis30.2DCK, PNP
6burkitt's lymphoma30.2ADA, BCL2, PNP, DNTT, DCK
7primary immunodeficiency disease30.2PNP
8gaucher's disease30.2GBA, ADA
9alzheimer's disease30.1DNTT
10acute lymphocytic leukemia30.0DCK, DNTT, PNP, BCL2, ADA
11thymoma29.9DNTT
12toxoplasmosis29.9ADK
13t-cell leukemia29.9PNP, BCL2, ADA
14chronic myeloid leukemia29.9ADA, BCL2, PNP, DNTT
15non-hodgkin lymphoma29.9DNTT, PNP, BCL2, ADA
16pancytopenia29.7GBA
17t cell deficiency10.8
18gamma chain deficiency10.8
19partial adenosine deaminase deficiency10.7
20b cell deficiency10.6
21t lymphocyte deficiency10.6
22zap70-related severe combined immunodeficiency10.6
23achondroplasia and severe combined immunodeficiency10.6
24severe combined immunodeficiency, atypical10.5
25severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
26hematopoietic stem cell transplantation10.4
27severe combined immunodeficiency with sensitivity to ionizing radiation10.4
28severe combined immunodeficiency, athabascan type10.4
29apo a-i deficiency10.3
30delayed-/late-onset adenosine deaminase deficiency10.3
31immunodeficiency 810.3
32severe combined immunodeficiency due to lck deficiency10.3
33tuberculous peritonitis10.3
34digeorge syndrome10.3
35n syndrome10.3
36agammaglobulinemia10.3
37severe combined immunodeficiency due to dna-pkcs deficiency10.3
38diamond-blackfan anemia10.2
39diamond-blackfan anemia 110.2
40hemolytic anemia due to erythrocyte adenosine deaminase overproduction10.2
41pulmonary tuberculosis10.2
42hemoglobin d disease10.2
43primary hyperoxaluria10.2
44hepatitis c10.2
45atopic dermatitis10.2
46dermatofibrosarcoma10.2
47common variable immunodeficiency10.2
48pulmonary alveolar proteinosis10.2
49omenn syndrome10.2
50bone lymphoma10.2

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



Diseases related to adenosine deaminase deficiency

Clinical Features for Adenosine Deaminase Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

102700

Clinical synopsis from OMIM:

102700

Drugs & Therapeutics for Adenosine Deaminase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Adenosine Deaminase Deficiency

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

33
Bone marrow, Spleen, Liver, Lung, Thyroid, Skin, Myeloid, Nk cells, T cells, B lymphoblasts, B cells, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Adenosine Deaminase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

37
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

Sources:
51PubMed
See all sources

Articles related to Adenosine Deaminase Deficiency:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency. (24256635)
2013
2
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. (22805442)
2013
3
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. (22262755)
2012
4
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. (22447032)
2012
5
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. (20493398)
2010
6
Neurologic abnormalities in patients with adenosine deaminase deficiency. (17765813)
2007
7
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. (17614781)
2007
8
Severe combined immune deficiency in an adenosine deaminase-deficient patient. (16724639)
2006
9
Increasing importance of stem cell gene therapy in adenosine deaminase deficiency? (16522790)
2006
10
Gene therapy for adenosine deaminase deficiency]. (15773344)
2005
11
New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency. (15580654)
2005
12
Capillary electrophoresis in diagnosis and monitoring of adenosine deaminase deficiency. (14578314)
2003
13
Gene therapy for adenosine deaminase deficiency. (14612670)
2003
14
Gene therapy for severe combined immunodeficiency caused by adenosine deaminase deficiency: improved retroviral vectors for clinical trials. (10202239)
1999
15
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. (9758612)
1998
16
Food allergy in a patient with adenosine deaminase deficiency undergoing enzyme replacement with polyethylene glycol-modified adenosine deaminase. (9564814)
1998
17
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. (9414266)
1998
18
Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency. (9211190)
1997
19
A girl with diabetes and severe combined immunodeficiency from adenosine deaminase deficiency. (9364370)
1997
20
Clinical study of gene therapy for adenosine deaminase deficiency]. (8831166)
1996
21
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. (8614422)
1996
22
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. (8673127)
1996
23
Molecular basis of adenosine deaminase deficiency. (8032366)
1994
24
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
25
Adenosine deaminase (ADA) deficiency as the unexpected cause of CD4+ T-lymphocytopenia in two HIV-negative adult female siblings. (7660952)
1994
26
Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency. (1387561)
1992
27
Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID). (1749685)
1991
28
Adenosine deaminase deficiency. (2078332)
1990
29
Successful lectin-separated bone marrow transplantation in adenosine deaminase deficiency-related severe immunodeficiency. (2098297)
1990
30
Differential deoxyadenosine toxicity to immature rabbit cartilage in vitro. A model for the chondro-osseous dysplasia of adenosine deaminase deficiency. (2788422)
1989
31
First trimester diagnosis of adenosine deaminase deficiency. (3120171)
1987
32
dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: significance for the immune response? (6335053)
1984
33
The mechanism of inhibition and "reversal" of mitogen-induced lymphocyte activation in a model of adenosine deaminase deficiency. (6610485)
1984
34
Genetic heterogeneity in partial adenosine deaminase deficiency. (6863546)
1983
35
Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency. (6980397)
1982
36
Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency. (6983936)
1982
37
Metabolic abnormalities of human adenosine deaminase deficiency reproduced in the mouse by 2'-deoxycoformycin, and adenosine deaminase inhibitor. (6268339)
1981
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
Effect of adenosine deaminase replacement therapy on a child of adenosine deaminase deficiency with severe combined immunodeficiency disease. (494247)
1979
41
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. (108044)
1978
42
Clinical delineation of adenosine deaminase deficiency. (387358)
1978
43
Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency. (627115)
1978
44
Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency. (627559)
1978
45
Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. (108039)
1978
46
Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency. (308999)
1978
47
Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency. (736910)
1978
48
Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes. (930931)
1977
49
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. (978320)
1976
50
Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency. (4815083)
1974

Genetic Variations for Adenosine Deaminase Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Adenosine Deaminase Deficiency:

63 (show all 27)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 50PharmGKB, 54Reactome, 30KEGG, 12EMD Millipore
See all sources

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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
See all sources

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

(show top 50)    (show all 94)
idCompoundScoreTop Affiliating Genes
1deoxyinosine45 2411.1ADA, PNP
25-amino-5-deoxyadenosine459.9ADK, ADA
3neplanocin a459.8ADA, AHCY
49-(beta-d-arabinofuranosyl)guanine459.8DCK, ADA, PNP
5nelarabine45 1110.8ADA, DCK, PNP
6xanthosine45 2410.8PNP, ITPA
78-phenyltheophylline459.8ADK, ADA
8cordycepin459.8DNTT, ADA
9tubercidin459.8ADK, AHCY
108-cyclopentyltheophylline459.8ADA, ADK
11n6-cyclopentyladenosine45 6010.7ADK, ADA
12xanthosine 5-triphosphate45 2410.7ITPA, PNP
136 thioguanine459.7PNP, ITPA, DCK
14nitrobenzylthioinosine459.6ADA, ADK
15deoxynucleoside459.5ADA, ADK, DCK
16vidarabine45 1110.5ADK, DCK, ADA
17triphosphate45 2410.5ITPA, DNTT, DCK
18ribose459.5PNP, ADK, AHCY
19cytidine45 11 2411.4DNTT, DCK, ADA
20parathion45 2410.4PNP, DCK, DNTT
21xanthine45 2410.4ADK, ADA, PNP
22prpp459.4DCK, PNP, ADK
23dipyridamole45 60 29 1112.4ADK, DCK, ADA
24erythro-9-(2 hydroxy 3-nonyl)adenine459.3ADA, ADK
255-methylthioadenosine459.2ADA, ADK, PNP, AHCY
26hypoxanthine45 11 2411.2AHCY, PNP, ADA, ADK
27dgtp45 2410.2PNP, DNTT, DCK, ITPA
28pentostatin45 60 29 1112.2DCK, ADK, ADA, PNP
29deoxyguanosine45 2410.2DCK, PNP, ADA, ADK
30s-adenosylhomocysteine45 2410.2PNP, AHCY, ADK, ADA
31deoxycytidine45 2410.2ADA, PNP, DCK, ADK
32inosine monophosphate459.1PNP, AHCY, ITPA, ADK
33adenine45 11 2411.1PNP, ADA, ADK, AHCY
34guanosine45 11 2411.1ADA, ADK, PNP, DCK
352 chloroadenosine459.1AHCY, ADK, DCK, ADA
36inosine45 249.9ADA, ITPA, AHCY, PNP, ADK
37ribavirin45 50 1110.9PNP, ADK, AHCY, ITPA, ADA
38methotrexate45 50 1110.9ADA, GBA, DNTT, DCK, ITPA
39deoxyadenosine45 249.8ADA, ADK, PNP, AHCY, DCK
40adenosine29 11 2410.8ADK, DCK, AHCY, PNP, ADA
41pyrimidine45 249.7OTC, PNP, DCK, ADA, ADK
425fluorouracil458.6DCK, BCL2, OTC, PNP
43pyrophosphate45 249.5DCK, ADK, PNP, ITPA, DNTT
442-chlorodeoxyadenosine458.5ADA, BCL2, PNP, DNTT, DCK
45fludarabine45 119.5DNTT, BCL2, ADA, DCK, PNP
46purine nucleoside458.3ADK, DNTT, AHCY, PNP, ADA, DCK
47nucleoside458.3DCK, AHCY, ADA, ADK, PNP, DNTT
48adenylate458.3PNP, ADK, DCK, DNTT, GBA, ADA
49purine45 248.9ADK, PNP, ITPA, AHCY, DNTT, DCK
50atp45 298.7OTC, DCK, ADA, DNTT, ADK, PNP

GO Terms for genes affiliated with Adenosine Deaminase Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenosine Deaminase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet