ADA
MCID: ADN001
MIFTS: 48

Adenosine Deaminase Deficiency (ADA)

Categories: Immune diseases, Rare diseases

Aliases & Classifications for Adenosine Deaminase Deficiency

MalaCards integrated aliases for Adenosine Deaminase Deficiency:

Name: Adenosine Deaminase Deficiency 12 77 25 54 26 56 15 39 74
Ada Deficiency 25 54 26
Ada-Scid 25 54 26
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 54 26
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 54 74
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 54 26
Severe Combined Immunodeficiency Due to Ada Deficiency 54 26
Scid Due to Ada Deficiency 54 26
Adenosine Deaminase 13
Ada 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5810
NCIt 51 C3962
SNOMED-CT 69 44940001
ICD10 34 D81.3

Summaries for Adenosine Deaminase Deficiency

NIH Rare Diseases : 54 Adenosine deaminase deficiency (ADA deficiency) is an inherited condition that damages the immune system and is a common cause of severe combined immunodeficiency (SCID). People with SCID due to ADA deficiency are unable to fight off most types of infections, including bacterial, viral and fungal infections. Most people with ADA deficiency develop symptoms before 6 months of age. The earliest symptoms of ADA deficiency include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth, and/or developmental delay. Some people with ADA deficiency will develop symptoms later in life. The symptoms in the late-onset form are typically milder than in the form that occurs in infancy. ADA deficiency is caused by mutations in the ADA gene and is inherited in an autosomal recessive manner. Diagnosis may be suspected by newborn screening or symptoms and confirmed by blood and genetic test results.  Currently, the most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy brother or sister of the person with ADA deficiency.

MalaCards based summary : Adenosine Deaminase Deficiency, also known as ada deficiency, is related to severe combined immunodeficiency, x-linked and gaucher disease, type i. An important gene associated with Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Metabolism and One carbon pool by folate. The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, 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 : 26 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 : 77 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 top 50) (show all 346)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 31.8 ADA IL2RG
2 gaucher disease, type i 31.3 ADA GBA
3 molybdenum cofactor deficiency, complementation group a 31.2 ADA ADK PNP
4 combined t cell and b cell immunodeficiency 30.9 ADA IL2RG
5 severe combined immunodeficiency 30.7 ADA IL2RG PNP
6 purine nucleoside phosphorylase deficiency 30.1 ADA AHCY PNP
7 omenn syndrome 29.5 ADA IL2RG
8 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.9
9 adenosine deaminase 2 deficiency 12.7
10 adenosine deaminase, elevated, hemolytic anemia due to 12.4
11 hemolytic anemia due to erythrocyte adenosine deaminase overproduction 12.3
12 pulmonary tuberculosis 11.5
13 pleurisy 11.5
14 peritonitis 11.5
15 tuberculous peritonitis 11.5
16 meningitis 11.5
17 pleural tuberculosis 11.5
18 pericarditis 11.5
19 tuberculous meningitis 11.4
20 asthma 11.4
21 maturity-onset diabetes of the young 11.3
22 congenital hemolytic anemia 11.3
23 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 11.3
24 diamond-blackfan anemia 1 11.3
25 diamond-blackfan anemia 2 11.3
26 diamond-blackfan anemia 3 11.3
27 diamond-blackfan anemia 4 11.3
28 diamond-blackfan anemia 5 11.3
29 diamond-blackfan anemia 6 11.3
30 diamond-blackfan anemia 7 11.3
31 diamond-blackfan anemia 8 11.3
32 diamond-blackfan anemia 9 11.3
33 diamond-blackfan anemia 10 11.3
34 diamond-blackfan anemia 11 11.3
35 diamond-blackfan anemia 12 11.3
36 dyschromatosis symmetrica hereditaria 11.1
37 extrapulmonary tuberculosis 11.1
38 prolymphocytic leukemia 11.1
39 pericardial effusion 11.1
40 pleural disease 11.1
41 hairy cell leukemia 11.1
42 bacterial pneumonia 11.1
43 reticular dysgenesis 11.1
44 mycobacterium tuberculosis 1 11.1
45 cryptococcal meningitis 11.1
46 constrictive pericarditis 11.1
47 tuberculous empyema 11.1
48 pleural empyema 11.1
49 pericardial tuberculosis 11.1
50 lymphopenia 11.1

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



Diseases related to Adenosine Deaminase Deficiency

Symptoms & Phenotypes for Adenosine Deaminase Deficiency

MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

47
# 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 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-61-7 60961
2
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3 Anti-Arrhythmia Agents Phase 1, Phase 2,Phase 2,Not Applicable
4 Neurotransmitter Agents Phase 1, Phase 2,Phase 2,Not Applicable
5 Vasodilator Agents Phase 1, Phase 2,Phase 2,Not Applicable
6 Peripheral Nervous System Agents Phase 1, Phase 2,Phase 2,Not Applicable
7 Analgesics Phase 1, Phase 2,Phase 2,Not Applicable
8
Zidovudine Approved Phase 1 30516-87-1 35370
9
Mycophenolic acid Approved Phase 1 24280-93-1 446541
10
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
11 Antitubercular Agents Phase 1
12 Antibiotics, Antitubercular Phase 1
13 Immunologic Factors Phase 1,Not Applicable
14 Cyclosporins Phase 1
15 Antifungal Agents Phase 1
16 Dermatologic Agents Phase 1
17 Antirheumatic Agents Phase 1
18 Calcineurin Inhibitors Phase 1
19 Anti-Bacterial Agents Phase 1
20 Immunosuppressive Agents Phase 1
21 Anti-Infective Agents Phase 1
22
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
23
tannic acid Approved 1401-55-4
24
Thrombin Approved, Investigational Not Applicable
25
Protein C Approved Not Applicable
26 Factor VIII Not Applicable
27 Immunoglobulins Not Applicable
28 protein S Not Applicable
29 Antibodies, Antiphospholipid Not Applicable
30 Antithrombins Not Applicable
31 Antibodies Not Applicable
32 Antithrombin III Not Applicable

Interventional clinical trials:

(show all 27)
# 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 Active, not 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 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Completed NCT01852071 Phase 1, Phase 2
8 Gene Therapy for Patients With ADA Adenosine Deaminase (ADA) Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Lentiviral transduced CD34+ cells
9 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
10 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
11 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Active, not recruiting NCT01380990 Phase 1, Phase 2
12 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
13 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
14 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
15 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
16 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
17 The Role of Bacteria and Genetic Variations in Cystic Fibrosis Completed NCT00043225
18 Strimvelis Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Recruiting NCT03478670
19 Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs) Recruiting NCT03232203 STRIMVELIS
20 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
21 Natural History Study of SCID Disorders Recruiting NCT01186913
22 Adolescent Mental Health: Canadian Psychiatric Risk and Outcome Study Active, not recruiting NCT02739932
23 Registry Study of Revcovi Treatment in Patients With ADA-SCID Not yet recruiting NCT03878069
24 Gene Transfer for ADA-SCID Using an Improved Lentiviral Vector (TYF-ADA) Not yet recruiting NCT03645460 Not Applicable
25 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
26 Comparative Prevalence of Psychiatric Manifestations in Purely Obstetrical Antiphospholipid Syndrome Terminated NCT01649479 Not Applicable
27 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:

42
Bone, Bone Marrow, T Cells, Testes, B Cells, Skin, Nk Cells

Publications for Adenosine Deaminase Deficiency

Articles related to Adenosine Deaminase Deficiency:

(show top 50) (show all 270)
# Title Authors Year
1
Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety. ( 29433935 )
2018
2
Adenosine deaminase deficiency: a review. ( 29690908 )
2018
3
Neutropenia among patients with adenosine deaminase deficiency. ( 29753815 )
2018
4
Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis. ( 30014500 )
2018
5
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. ( 30194989 )
2018
6
Strimvelis® for Treating Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Evaluation. ( 30334168 )
2018
7
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. ( 29744787 )
2018
8
A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation. ( 28823388 )
2017
9
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
10
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
11
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency. ( 27579027 )
2016
12
Adenosine Deaminase Deficiency with a Novel Gene Mutation. ( 27086606 )
2016
13
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. ( 27129325 )
2016
14
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. ( 26682746 )
2015
15
Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning. ( 25875699 )
2015
16
Effects of enzyme replacement therapy on immune function in ADA deficiency patient. ( 26122173 )
2015
17
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. ( 23260757 )
2013
18
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. ( 22805442 )
2013
19
Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency. ( 24256635 )
2013
20
Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. ( 23335557 )
2013
21
Genetic and biochemical consequences of adenosine deaminase deficiency in humans. ( 24772956 )
2013
22
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. ( 23280131 )
2013
23
Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. ( 23179487 )
2013
24
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. ( 22969765 )
2012
25
Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. ( 22348551 )
2012
26
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. ( 22622038 )
2012
27
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. ( 22447032 )
2012
28
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
29
Severe combined immunodeficiency due to adenosine deaminase deficiency. ( 22764473 )
2012
30
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. ( 22578972 )
2012
31
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. ( 22409989 )
2012
32
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. ( 22262755 )
2012
33
Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069. ( 22262756 )
2012
34
Restoring balance to B cells in ADA deficiency. ( 22622034 )
2012
35
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). ( 21271505 )
2011
36
Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. ( 21531016 )
2011
37
Gene therapy for adenosine deaminase deficiency. ( 20493400 )
2010
38
Late-onset adenosine deaminase deficiency presenting with Heck's disease. ( 20039061 )
2010
39
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. ( 20493398 )
2010
40
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
41
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. ( 19665771 )
2009
42
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. ( 24198507 )
2009
43
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. ( 19179314 )
2009
44
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. ( 19337228 )
2009
45
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008
46
[Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. ( 19099832 )
2008
47
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. ( 17614781 )
2007
48
Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). ( 17300989 )
2007
49
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. ( 17185467 )
2007
50
Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. ( 17586199 )
2007

Variations for Adenosine Deaminase Deficiency

Expression for Adenosine Deaminase Deficiency

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

Pathways for Adenosine Deaminase Deficiency

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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