MCID: ADN001
MIFTS: 52

Adenosine Deaminase Deficiency

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Adenosine Deaminase Deficiency

MalaCards integrated aliases for Adenosine Deaminase Deficiency:

Name: Adenosine Deaminase Deficiency 12 72 23 49 24 51 14 37 69
Ada Deficiency 23 49 24
Ada-Scid 23 49 24
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 49 24
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 49 69
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 49 24
Severe Combined Immunodeficiency Due to Ada Deficiency 49 24
Scid Due to Ada Deficiency 49 24
Adenosine Deaminase 13
Ada 12

Classifications:



Summaries for Adenosine Deaminase Deficiency

NIH Rare Diseases : 49 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, x-linked and severe combined immunodeficiency, and has symptoms including sinusitis, recurrent otitis media and failure to thrive. An important gene associated with Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Metabolism and Pyrimidine metabolism (KEGG). The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and bone marrow, and related phenotypes are mortality/aging and respiratory system

Disease Ontology : 12 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 : 24 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 : 72 Adenosine deaminase deficiency (also called ADA deficiency or ADA-SCID) is an autosomal... more...

GeneReviews: NBK1483

Related Diseases for Adenosine Deaminase Deficiency

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 31.4 ADA IL2RG
2 severe combined immunodeficiency 30.2 ADA IL2RG
3 combined immunodeficiency, x-linked 29.9 ADA AHCY IL2RG PNP
4 purine nucleoside phosphorylase deficiency 29.8 ADA AHCY PNP
5 omenn syndrome 29.4 ADA IL2RG
6 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.7
7 thiopurines, poor metabolism of, 1 10.0 ITPA PNP
8 hematopoietic stem cell transplantation 10.0
9 hepatitis 10.0
10 lymphoma 10.0
11 gaucher disease, type i 10.0 ADA GBA
12 hypermethioninemia 9.9 ADK AHCY
13 branchiootic syndrome 1 9.9
14 dermatofibrosarcoma protuberans 9.9
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
16 lung disease 9.9
17 hashimoto thyroiditis 9.8
18 osteoporosis 9.8
19 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
20 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
21 myelofibrosis 9.8
22 muscular dystrophy, duchenne type 9.8
23 dermatitis, atopic 9.8
24 bone mineral density quantitative trait locus 8 9.8
25 bone mineral density quantitative trait locus 15 9.8
26 hemoglobin h disease 9.8
27 chronic granulomatous disease 9.8
28 common variable immunodeficiency 9.8
29 diabetes mellitus 9.8
30 liver disease 9.8
31 neutropenia 9.8
32 t cell deficiency 9.8
33 hemosiderosis 9.8
34 pulmonary alveolar proteinosis 9.8
35 hypothyroidism 9.8
36 dermatitis 9.8
37 bilirubin metabolic disorder 9.8
38 primary hyperoxaluria 9.8
39 food allergy 9.8
40 cerebritis 9.8
41 cerebral lymphoma 9.8
42 acute disseminated encephalomyelitis 9.8
43 inherited metabolic disorder 9.8
44 thyroiditis 9.8
45 muscular dystrophy 9.8
46 immune deficiency disease 9.6 ADA IL2RG

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



Diseases related to Adenosine Deaminase Deficiency

Symptoms & Phenotypes for Adenosine Deaminase Deficiency

Human phenotypes related to Adenosine Deaminase Deficiency:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 sinusitis 31 frequent (33%) HP:0000246
2 recurrent otitis media 31 frequent (33%) HP:0000403
3 failure to thrive 31 frequent (33%) HP:0001508
4 diarrhea 31 frequent (33%) HP:0002014
5 recurrent upper respiratory tract infections 31 frequent (33%) HP:0002788
6 absence of lymph node germinal center 31 frequent (33%) HP:0002849
7 increased ige level 31 frequent (33%) HP:0003212
8 lack of t cell function 31 frequent (33%) HP:0005354
9 recurrent opportunistic infections 31 frequent (33%) HP:0005390
10 decrease in t cell count 31 frequent (33%) HP:0005403
11 recurrent pneumonia 31 frequent (33%) HP:0006532
12 pulmonary insufficiency 31 frequent (33%) HP:0010444
13 b lymphocytopenia 31 frequent (33%) HP:0010976
14 inflammatory abnormality of the skin 31 frequent (33%) HP:0011123
15 allergy 31 frequent (33%) HP:0012393
16 anti-thyroid peroxidase antibody positivity 31 frequent (33%) HP:0025379
17 absent tonsils 31 frequent (33%) HP:0030813

MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.43 ADA ADK AHCY GBA IL2RG ITPA
2 respiratory system MP:0005388 9.02 ADA ADK GBA IL2RG ITPA

Drugs & Therapeutics for Adenosine Deaminase Deficiency

Drugs for Adenosine Deaminase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 58-61-7 60961
2
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
3 Analgesics Phase 1, Phase 2
4 Neurotransmitter Agents Phase 1, Phase 2
5 Vasodilator Agents Phase 1, Phase 2
6 Peripheral Nervous System Agents Phase 1, Phase 2
7 Anti-Arrhythmia Agents Phase 1, Phase 2
8 Anesthetics Phase 1, Phase 2
9
Zidovudine Approved Phase 1 30516-87-1 35370
10
Mycophenolic acid Approved Phase 1 24280-93-1 446541
11
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
12
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
13 Cyclosporins Phase 1
14 Dermatologic Agents Phase 1
15 Anti-Bacterial Agents Phase 1
16 Anti-Infective Agents Phase 1
17 Antifungal Agents Phase 1
18 Immunosuppressive Agents Phase 1
19 Antibiotics, Antitubercular Phase 1
20 Antirheumatic Agents Phase 1
21 Calcineurin Inhibitors Phase 1
22 Antitubercular Agents Phase 1
23
Thrombin Approved, Investigational
24
Protein C Approved
25 protein S
26 Antibodies, Antiphospholipid
27 Immunoglobulins
28 Factor VIII
29 Antibodies
30 Antithrombin III
31 Antithrombins

Interventional clinical trials:

(show all 24)

# Name Status NCT ID Phase Drugs
1 Retroviral Insertion Site Methodology Study Not yet recruiting NCT03311074 Phase 4
2 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
3 Imagery Rescripting in the Treatment of Post Traumatic Stress Disorder (PTSD) Following Early Chronic Interpersonal Trauma Unknown status NCT01464892 Phase 2
4 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
5 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
6 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
7 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
8 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
9 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
10 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
11 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
12 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
13 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
14 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study Completed NCT00001255 ADA PBSC;ADA Umbilical Cord Blood Cells;Transduced Lymphocytes
15 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
16 Natural History Study of SCID Disorders Recruiting NCT01186913
17 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
18 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
19 The Role of Bacteria and Genetic Variations in Cystic Fibrosis Recruiting NCT00043225
20 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
21 Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs) Not yet recruiting NCT03232203 STRIMVELIS
22 Emergency Use of Adoptive Immunotherapy With CMV-Specific T Cells After Donor Bone Marrow Transplant of an Infant With Immunodeficiency Syndrome and CMV Infection No longer available NCT00547235
23 Comparative Prevalence of Psychiatric Manifestations in Purely Obstetrical Antiphospholipid Syndrome Terminated NCT01649479
24 Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents Withdrawn NCT01182857

Search NIH Clinical Center for Adenosine Deaminase Deficiency

Genetic Tests for Adenosine Deaminase Deficiency

Anatomical Context for Adenosine Deaminase Deficiency

MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

38
Bone, T Cells, Bone Marrow, Skin, B Cells, Nk Cells, Testes

Publications for Adenosine Deaminase Deficiency

Articles related to Adenosine Deaminase Deficiency:

(show top 50) (show all 273)
# Title Authors Year
1
Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety. ( 29433935 )
2018
2
How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID). ( 28194615 )
2017
3
Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice. ( 28319446 )
2017
4
Cicalese MP, Ferrua F, Castagnaro L, et al. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. Blood. 2016;128(1):45-54. ( 28620107 )
2017
5
A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation. ( 28823388 )
2017
6
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. ( 27129325 )
2016
7
Adenosine Deaminase Deficiency with a Novel Gene Mutation. ( 27086606 )
2016
8
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency. ( 27579027 )
2016
9
Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency. ( 27176810 )
2016
10
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. ( 26682746 )
2015
11
Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning. ( 25875699 )
2015
12
Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome. ( 25875700 )
2015
13
Genetic and biochemical consequences of adenosine deaminase deficiency in humans. ( 24772956 )
2013
14
Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency. ( 24256635 )
2013
15
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. ( 23260757 )
2013
16
Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. ( 23335557 )
2013
17
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. ( 23280131 )
2013
18
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. ( 22805442 )
2013
19
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. ( 22153773 )
2012
20
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. ( 22262755 )
2012
21
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. ( 22622038 )
2012
22
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. ( 22447032 )
2012
23
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. ( 22409989 )
2012
24
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. ( 22350222 )
2012
25
Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069. ( 22262756 )
2012
26
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
27
Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. ( 22348551 )
2012
28
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. ( 22578972 )
2012
29
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. ( 22968453 )
2012
30
Severe combined immunodeficiency due to adenosine deaminase deficiency. ( 22764473 )
2012
31
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. ( 22791287 )
2012
32
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. ( 22969765 )
2012
33
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. ( 21725047 )
2011
34
Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. ( 21865538 )
2011
35
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). ( 21271505 )
2011
36
Recombinant adeno-associated virus-mediated gene transfer for the potential therapy of adenosine deaminase-deficient severe combined immune deficiency. ( 21142972 )
2011
37
Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. ( 21531016 )
2011
38
The different extent of B and T cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency. ( 21057082 )
2010
39
Late-onset adenosine deaminase deficiency presenting with Heck's disease. ( 20039061 )
2010
40
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. ( 20493398 )
2010
41
Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency. ( 20966749 )
2010
42
Gene therapy for adenosine deaminase deficiency. ( 20493400 )
2010
43
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. ( 19337228 )
2009
44
Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID. ( 19224139 )
2009
45
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. ( 19665771 )
2009
46
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. ( 19179314 )
2009
47
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. ( 24198507 )
2009
48
Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. ( 19018008 )
2008
49
[Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. ( 19099832 )
2008
50
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008

Variations for Adenosine Deaminase Deficiency

ClinVar genetic disease variations for Adenosine Deaminase Deficiency:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA NM_000022.3(ADA): c.43C> G (p.His15Asp) single nucleotide variant Pathogenic rs121908725 GRCh37 Chromosome 20, 43264920: 43264920
2 ADA NM_000022.3(ADA): c.956_960delAAGAG (p.Glu319Glyfs) deletion Pathogenic/Likely pathogenic rs771266745 GRCh37 Chromosome 20, 43249674: 43249678
3 ADA NM_000022.3(ADA): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121908717 GRCh37 Chromosome 20, 43255158: 43255158
4 ADA NM_000022.3(ADA): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121908714 GRCh37 Chromosome 20, 43255157: 43255157
5 ADA NM_000022.3(ADA): c.632G> A (p.Arg211His) single nucleotide variant Pathogenic rs121908716 GRCh37 Chromosome 20, 43251694: 43251694
6 ADA NM_000022.3(ADA): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic rs199422327 GRCh37 Chromosome 20, 43249723: 43249723
7 ADA ADA, 3.25-KB DEL, ALU-RELATED deletion Pathogenic
8 ADA NM_000022.3(ADA): c.890C> A (p.Pro297Gln) single nucleotide variant Pathogenic rs121908718 GRCh37 Chromosome 20, 43249744: 43249744
9 ADA NM_000022.3(ADA): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs121908737 GRCh37 Chromosome 20, 43254242: 43254242
10 ADA NM_000022.3(ADA): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs121908738 GRCh37 Chromosome 20, 43251253: 43251253
11 ADA NM_000022.3(ADA): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121908739 GRCh37 Chromosome 20, 43255139: 43255139
12 ADA NM_000022.3(ADA): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs121908740 GRCh37 Chromosome 20, 43251695: 43251695
13 ADA NM_000022.3(ADA): c.643G> A (p.Ala215Thr) single nucleotide variant Pathogenic rs114025668 GRCh37 Chromosome 20, 43251683: 43251683
14 ADA NM_000022.3(ADA): c.646G> A (p.Gly216Arg) single nucleotide variant Pathogenic rs121908723 GRCh37 Chromosome 20, 43251680: 43251680
15 ADA NM_000022.3(ADA): c.219-2A> G single nucleotide variant Pathogenic rs387906267 GRCh37 Chromosome 20, 43255242: 43255242
16 ADA NM_000022.3(ADA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs121908735 GRCh37 Chromosome 20, 43254222: 43254222
17 ADA NM_000022.3(ADA): c.872C> T (p.Ser291Leu) single nucleotide variant Pathogenic rs121908721 GRCh37 Chromosome 20, 43249762: 43249762
18 ADA ADA, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
19 ADA LRG_16: g.34081_34084delCAGAins17 indel Pathogenic GRCh37 Chromosome 20, 43251293: 43251296
20 ADA NM_000022.3(ADA): c.33+1G> C single nucleotide variant Pathogenic rs587776534 GRCh37 Chromosome 20, 43280215: 43280215
21 ADA NM_000022.3(ADA): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs199422328 GRCh37 Chromosome 20, 43255238: 43255238
22 ADA NM_000022.3(ADA): c.454C> A (p.Leu152Met) single nucleotide variant Pathogenic rs121908728 GRCh37 Chromosome 20, 43254234: 43254234
23 ADA NM_000022.3(ADA): c.698C> T (p.Thr233Ile) single nucleotide variant Pathogenic rs121908729 GRCh37 Chromosome 20, 43251552: 43251552
24 ADA NM_000022.3(ADA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs121908722 GRCh37 Chromosome 20, 43254221: 43254221
25 ADA NM_000022.3(ADA): c.478+1G> A single nucleotide variant Pathogenic rs761242509 GRCh37 Chromosome 20, 43254209: 43254209
26 ADA NM_000022.3(ADA): c.703C> T (p.Arg235Trp) single nucleotide variant Pathogenic rs778809577 GRCh37 Chromosome 20, 43251547: 43251547

Expression for Adenosine Deaminase Deficiency

Search GEO for disease gene expression data for Adenosine Deaminase Deficiency.

Pathways for Adenosine Deaminase Deficiency

Pathways related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ADA ADK AHCY GBA ITPA PNP
2
Show member pathways
11.82 ADA ADK ITPA PNP
3
Show member pathways
11.55 ADA AHCY
4
Show member pathways
11.44 ADA ADK PNP
5
Show member pathways
11.27 ADA ADK ITPA PNP
6 10.89 ADA IL2RG
7 10.69 ADK ITPA

GO Terms for Adenosine Deaminase Deficiency

Cellular components related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.1 ADA ADK AHCY IL2RG ITPA PNP

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.32 ADA GBA
2 nucleotide metabolic process GO:0009117 9.26 ADA ITPA
3 purine nucleotide catabolic process GO:0006195 9.16 ITPA PNP
4 positive regulation of alpha-beta T cell differentiation GO:0046638 8.96 ADA PNP
5 purine-containing compound salvage GO:0043101 8.8 ADA ADK PNP

Molecular functions related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.92 ADA AHCY GBA ITPA

Sources for Adenosine Deaminase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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