MCID: ADN001
MIFTS: 47

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:
10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Adenosine Deaminase Deficiency:

Name: Adenosine Deaminase Deficiency 10 21 45 23 47 12 65
Ada Deficiency 21 45 22 23 51
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 45 51 65 36
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 45 22 23
Ada-Scid 21 45 23
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 45 23
Severe Combined Immunodeficiency Due to Ada Deficiency 45 23
 
Scid Due to Ada Deficiency 45 23
Adenosine Deaminase 11 22
Ada-Deficient Severe Combined Immunodeficiency Disease 22
Scid Due to Adenosine Deaminase Deficiency 51
Scid Due to Ada Deficiency, Early-Onset 65
Partial Adenosine Deaminase Deficiency 65
Ada 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
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
MeSH36 C531816
NCIt42 C3962
Orphanet51 277
ICD10 via Orphanet28 D81.3
MESH via Orphanet37 C531816
UMLS via Orphanet66 C0392607
ICD1027 D81.3

Summaries for Adenosine Deaminase Deficiency

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NIH Rare Diseases:45 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 omenn syndrome and severe combined immunodeficiency. An important gene associated with Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase), and among its related pathways are purine nucleotides degradation and Primary immunodeficiency. Affiliated tissues include bone, t cells and b cells, and related mouse phenotypes are cellular and hematopoietic 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:68 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 316)
idRelated DiseaseScoreTop Affiliating Genes
1omenn syndrome30.1ADA, IL2RG
2severe combined immunodeficiency11.1
3tuberculous meningitis10.7
4severe combined immunodeficiency due to ada deficiency10.6
5severe combined immune deficiency10.6
6arthritis10.6
7rheumatoid arthritis10.6
8dyschromatosis symmetrica hereditaria10.5
9nutritional deficiency disease10.5
10combined t cell and b cell immunodeficiency10.5
11ipex syndrome10.5
12child syndrome10.5
13kid syndrome10.5
14lupus erythematosus10.5
15aplastic anemia10.4
16marchiafava bignami disease10.4
17hematopoietic stem cell transplantation10.4
18hepatitis10.4
19delayed-/late-onset adenosine deaminase deficiency10.4
20systemic lupus erythematosus10.4
21breast cancer10.4
22bacterial meningitis10.4
23pericardial effusion10.4
24eclampsia10.4
25measles10.4
26b cell deficiency10.3
27peritonitis10.3
28engraftment syndrome10.3
29sneddon syndrome10.3
30panic disorder10.3
31liver cirrhosis10.3
32acquired immunodeficiency syndrome10.3
33pre-eclampsia10.3
34mesothelioma10.3
35hemolytic anemia due to erythrocyte adenosine deaminase overproduction10.3
36gamma chain deficiency10.3
37tuberculosis10.3
38lymphocytes absent10.3
39immunodeficiency 3010.3
40agammaglobulinemia10.3
41blood protein disease10.3
42lymphatic system disease10.3
43plasma protein metabolism disease10.3
44lymphoproliferative syndrome 110.2
45immunodeficiency 1010.2
46agammaglobulinemia 110.2
47immunodeficiency, isolated10.2
48tuberculous peritonitis10.2
49leukocyte disease10.2
50pleurisy10.2

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Adenosineapproved, investigationalPhase 3, Phase 1, Phase 234058-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
2
Busulfanapproved, investigationalPhase 1, Phase 248655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
3
ZidovudineapprovedPhase 148930516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
CPD000058351
 
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1EZN-2279 in Patients With ADA-SCIDRecruitingNCT01420627Phase 3
2Gene Therapy ADA DeficiencyCompletedNCT01279720Phase 1, Phase 2
3Gene Therapy for ADA-SCIDCompletedNCT00599781Phase 1, Phase 2
4Lentiviral Gene Therapy for Adenosine Deaminase (ADA) DeficiencyRecruitingNCT01380990Phase 1, Phase 2
5Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID)RecruitingNCT01852071Phase 1, Phase 2
6MND-ADA Transduction of CD34+ Cells From Children With ADA-SCIDActive, not recruitingNCT00794508Phase 2
7ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCIDActive, not recruitingNCT00598481Phase 2
8Treatment 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 VectorCompletedNCT02022696Phase 1
9Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) DeficiencyCompletedNCT00018018Phase 1
10Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History StudyCompletedNCT00001255
11Participation in a Research Registry for Immune DisordersRecruitingNCT01953016
12Natural History Study of SCID DisordersRecruitingNCT01186913
13Patients Treated for SCID (1968-2010)RecruitingNCT01346150
14The Role of Bacteria and Genetic Variations in Cystic FibrosisRecruitingNCT00043225
15Idiopathic CD4 LymphocytopeniaRecruitingNCT02113930
16Molecular and Clinical Studies of Primary Immunodeficiency DiseasesEnrolling by invitationNCT00006319
17Emergency Use of Adoptive Immunotherapy With CMV-Specific T Cells After Donor Bone Marrow Transplant of an Infant With Immunodeficiency Syndrome and CMV InfectionNo longer availableNCT00547235
18Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their ParentsWithdrawnNCT01182857

Search NIH Clinical Center for Adenosine Deaminase Deficiency


Cochrane evidence based reviews: Severe combined immunodeficiency due to 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 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

Animal Models for Adenosine Deaminase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.8ADA, GBA, IL2RG, ITPA, PNP
2MP:00053977.7ADA, GBA, IL2RG, ITPA, PNP
3MP:00053887.3ADA, ADK, GBA, IL2RG, ITPA
4MP:00107687.1ADA, ADK, GBA, IL2RG, ITPA, PNP

Publications for Adenosine Deaminase Deficiency

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Articles related to Adenosine Deaminase Deficiency:

(show top 50)    (show all 261)
idTitleAuthorsYear
1
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. (25954555)
2012
2
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. (22350222)
2012
3
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. (22262755)
2012
4
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. (22622038)
2012
5
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. (20493398)
2010
6
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. (24198507)
2009
7
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. (19665771)
2009
8
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. (19179314)
2009
9
Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. (19018008)
2008
10
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. (17185467)
2007
11
Neurologic abnormalities in patients with adenosine deaminase deficiency. (17765813)
2007
12
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. (17614781)
2007
13
Severe combined immune deficiency in an adenosine deaminase-deficient patient. (16724639)
2006
14
Gene therapy for adenosine deaminase deficiency]. (15773344)
2005
15
Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. (16263974)
2005
16
Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation. (15705418)
2005
17
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. (14760277)
2004
18
New models for the study of adenosine deaminase deficiency. (9598108)
1998
19
High-efficiency gene transfer into normal and adenosine deaminase-deficient T lymphocytes is mediated by transduction on recombinant fibronectin fragments. (9573255)
1998
20
Generation of normal lymphocyte populations following transplantation of adenosine-deaminase-deficient fetal liver cells. (9193758)
1997
21
Adenosine deaminase deficiency in adults. (9108404)
1997
22
Insights into thymic purine metabolism and adenosine deaminase deficiency revealed by transgenic mice overexpressing ecto-5'-nucleotidase (CD73). (9045870)
1997
23
Full genetic rescue of adenosine deaminase-deficient mice through introduction of the human gene. (8894685)
1996
24
Bone marrow gene transfer in three patients with adenosine deaminase deficiency. (8867866)
1996
25
Gene therapy for adenosine deaminase deficiency. (7767649)
1995
26
Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. (8120281)
1994
27
Adenosine Deaminase Deficiency (20301656)
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
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
31
Hot spot mutations in adenosine deaminase deficiency. (2166947)
1990
32
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
33
Rejection of bone marrow transplant and resistance of alloantigen reactive cells to in vivo deoxyadenosine in adenosine deaminase deficiency. (2971490)
1988
34
Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. (3260944)
1988
35
Adenosine deaminase deficiency. (3108284)
1987
36
Complete and partial adenosine deaminase deficiency. Relationship of immune function to metabolite concentrations, enzyme activity, and effects of therapy. (3907453)
1985
37
Iron overload as a result of transfusion therapy in a patient with adenosine deaminase deficiency. (3982555)
1985
38
Abnormalities in S-adenosylhomocysteine hydrolysis, ATP catabolism, and lymphoid differentiation in adenosine deaminase deficiency. (3865575)
1985
39
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
40
HLA typing of amniotic fluid cells for the prenatal determination of therapeutic transplantation options for a fetus affected with adenosine deaminase deficiency. (6351373)
1983
41
Abnormal platelet aggregation in severe combined immunodeficiency disease with adenosine deaminase deficiency. (678472)
1978
42
Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes. (930931)
1977
43
Adenosine deaminase deficiency and severe combined immunodeficiency disease. (195170)
1977
44
Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency. (947948)
1976
45
Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme. (1061119)
1976
46
Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973. (1089440)
1975
47
Severe combined immunodeficiency and adenosine deaminase deficiency. (1089883)
1975
48
Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency. (4815083)
1974
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:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1ADANM_000022.2(ADA): c.956_960delAAGAG (p.Glu319Glyfs)deletionPathogenicrs771266745GRCh38Chr 20, 44621033: 44621037
2ADANM_000022.2(ADA): c.301C> T (p.Arg101Trp)single nucleotide variantPathogenicrs121908717GRCh37Chr 20, 43255158: 43255158
3ADANM_000022.2(ADA): c.302G> A (p.Arg101Gln)single nucleotide variantPathogenicrs121908714GRCh37Chr 20, 43255157: 43255157
4ADANM_000022.2(ADA): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs121908716GRCh37Chr 20, 43251694: 43251694
5ADANM_000022.2(ADA): c.911T> G (p.Leu304Arg)single nucleotide variantPathogenicrs199422327GRCh37Chr 20, 43249723: 43249723
6ADANM_000022.2(ADA): c.986C> T (p.Ala329Val)single nucleotide variantLikely pathogenic, Pathogenicrs121908715GRCh37Chr 20, 43249032: 43249032
7ADAADA, 3.25-KB DEL, ALU-RELATEDdeletionPathogenic
8ADANM_000022.2(ADA): c.890C> A (p.Pro297Gln)single nucleotide variantPathogenicrs121908718GRCh37Chr 20, 43249744: 43249744
9ADANM_000022.2(ADA): c.226C> T (p.Arg76Trp)single nucleotide variantPathogenicrs121908736GRCh37Chr 20, 43255233: 43255233
10ADANM_000022.2(ADA): c.446G> A (p.Arg149Gln)single nucleotide variantPathogenicrs121908737GRCh37Chr 20, 43254242: 43254242
11ADANM_000022.2(ADA): c.821C> T (p.Pro274Leu)single nucleotide variantPathogenicrs121908738GRCh37Chr 20, 43251253: 43251253
12ADANM_000022.2(ADA): c.320T> C (p.Leu107Pro)single nucleotide variantPathogenicrs121908739GRCh37Chr 20, 43255139: 43255139
13ADANM_000022.2(ADA): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs121908740GRCh37Chr 20, 43251695: 43251695
14ADANM_000022.2(ADA): c.643G> A (p.Ala215Thr)single nucleotide variantPathogenicrs114025668GRCh37Chr 20, 43251683: 43251683
15ADANM_000022.2(ADA): c.646G> A (p.Gly216Arg)single nucleotide variantPathogenicrs121908723GRCh37Chr 20, 43251680: 43251680
16ADANM_000022.2(ADA): c.219-2A> Gsingle nucleotide variantPathogenicrs387906267GRCh37Chr 20, 43255242: 43255242
17ADANM_000022.2(ADA): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs121908735GRCh37Chr 20, 43254222: 43254222
18ADANM_000022.2(ADA): c.872C> T (p.Ser291Leu)single nucleotide variantPathogenicrs121908721GRCh37Chr 20, 43249762: 43249762
19ADAADA, IVS2DS, G-A, +1single nucleotide variantPathogenic
20ADAADA, 7-BP INS, IVS8ASindelPathogenicGRCh37Chr 20, 43251293: 43251296
21ADANM_000022.2(ADA): c.33+1G> Csingle nucleotide variantPathogenicrs587776534GRCh37Chr 20, 43280215: 43280215
22ADANM_000022.2(ADA): c.221G> T (p.Gly74Val)single nucleotide variantPathogenicrs199422328GRCh37Chr 20, 43255238: 43255238
23ADAADA, IVS5DS, G-A, +1single nucleotide variantPathogenic
24ADANM_000022.2(ADA): c.454C> A (p.Leu152Met)single nucleotide variantPathogenicrs121908728GRCh37Chr 20, 43254234: 43254234
25ADANM_000022.2(ADA): c.698C> T (p.Thr233Ile)single nucleotide variantPathogenicrs121908729GRCh37Chr 20, 43251552: 43251552
26ADANM_000022.2(ADA): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs121908722GRCh37Chr 20, 43254221: 43254221
27ADANM_000022.2(ADA): c.986C> T (p.Ala329Val)single nucleotide variantLikely pathogenic, Pathogenicrs121908715GRCh37Chr 20, 43249032: 43249032

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
9.7ADA, PNP
29.3ADA, IL2RG
3
Show member pathways
9.2ADA, ADK, PNP
4
Show member pathways
8.5ADA, ADK, ITPA, PNP
5
Pyrimidine metabolism (KEGG)
Show member pathways
8.5ADA, ADK, ITPA, PNP
6
Show member pathways
8.5ADA, ADK, AHCY, ITPA
7
Show member pathways
7.6ADA, ADK, AHCY, GBA, ITPA, PNP

GO Terms for genes affiliated with Adenosine Deaminase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.1ADA, ADK, AHCY, ITPA, PNP

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of alpha-beta T cell differentiationGO:004663810.3ADA, PNP
2negative regulation of inflammatory responseGO:005072810.1ADA, GBA
3purine nucleobase metabolic processGO:00061449.5ADA, ADK, PNP
4purine-containing compound salvageGO:00431019.5ADA, ADK, PNP
5nucleobase-containing small molecule metabolic processGO:00550868.4ADA, ADK, ITPA, PNP
6small molecule metabolic processGO:00442817.6ADA, ADK, AHCY, GBA, ITPA, PNP

Sources for Adenosine Deaminase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet