ADASCID
MCID: SVR095
MIFTS: 44

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency (ADASCID)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards integrated aliases for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 58 6
Severe Combined Immunodeficiency Due to Ada Deficiency 58 76 30 6 41
Partial Adenosine Deaminase Deficiency 30 6 17 74
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 60 74
Adenosine Deaminase Deficiency, Partial 58 13
Adenosine Deaminase Deficiency 76 74
Scid Due to Ada Deficiency 58 76
Ada Deficiency 60 76
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Negative Due to Adenosine Deaminase Deficiency 76
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Negative Due to Adenosine Deaminase Deficiency 76
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b Cell-Negative/nk Cell-Negative Due to Adenosine Deaminase Deficiency 76
Scid Due to Adenosine Deaminase Deficiency 60
Scid Due to Ada Deficiency, Early-Onset 58
Ada-Scid 58
Adascid 76

Characteristics:

Orphanet epidemiological data:

60
severe combined immunodeficiency due to adenosine deaminase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive
somatic mosaicism

Miscellaneous:
late onset combined immunodeficiency with allelic variant
85-90% with manifestations in first months of life
10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age
recurrent bacterial, viral, and fungal infections
treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy


HPO:

33
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency:
Inheritance somatic mosaicism autosomal recessive inheritance


Classifications:



Summaries for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot : 76 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency: An autosomal recessive disorder accounting for about 50% of non-X- linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell- mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency.

MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency, also known as severe combined immunodeficiency due to ada deficiency, is related to adenosine deaminase deficiency and severe combined immunodeficiency, x-linked. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase). The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and sinusitis

Description from OMIM: 102700

Related Diseases for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 adenosine deaminase deficiency 12.3
2 severe combined immunodeficiency, x-linked 11.4
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.4
4 severe combined immunodeficiency 10.4
5 combined t cell and b cell immunodeficiency 10.4
6 lymphoma 10.3
7 purine nucleoside phosphorylase deficiency 10.2
8 hematopoietic stem cell transplantation 10.2
9 omenn syndrome 10.1
10 dermatofibrosarcoma protuberans 10.1
11 neutropenia 10.1
12 pulmonary alveolar proteinosis 10.1
13 lung disease 10.1
14 ige responsiveness, atopic 10.1
15 bilirubin metabolic disorder 10.1
16 bowenoid papulosis 10.1
17 burkitt lymphoma 9.9
18 osteoporosis 9.9
19 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
20 myelofibrosis 9.9
21 wiskott-aldrich syndrome 9.9
22 muscular dystrophy, duchenne type 9.9
23 dermatitis, atopic 9.9
24 inosine triphosphatase deficiency 9.9
25 hemoglobin h disease 9.9
26 chronic granulomatous disease 9.9
27 common variable immunodeficiency 9.9
28 diabetes mellitus 9.9
29 hepatitis 9.9
30 liver disease 9.9
31 t cell deficiency 9.9
32 hemosiderosis 9.9
33 telangiectasis 9.9
34 hypothyroidism 9.9
35 dermatitis 9.9
36 primary hyperoxaluria 9.9
37 food allergy 9.9
38 pneumonia 9.9
39 cerebral lymphoma 9.9
40 acute disseminated encephalomyelitis 9.9
41 thyroiditis 9.9
42 muscular dystrophy 9.9
43 lymphomatous thyroiditis 9.9
44 plasmablastic lymphoma 9.9
45 pancytopenia 9.9
46 lymphopenia 9.9
47 chromosomal triplication 9.9
48 mosaic trisomy 8 9.9

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:



Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Human phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
2 sinusitis 60 33 frequent (33%) Frequent (79-30%) HP:0000246
3 recurrent upper respiratory tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0002788
4 recurrent otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000403
5 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
6 recurrent pneumonia 60 33 frequent (33%) Frequent (79-30%) HP:0006532
7 recurrent opportunistic infections 60 33 frequent (33%) Frequent (79-30%) HP:0005390
8 absent tonsils 60 33 frequent (33%) Frequent (79-30%) HP:0030813
9 decrease in t cell count 60 33 frequent (33%) Frequent (79-30%) HP:0005403
10 b lymphocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0010976
11 inflammatory abnormality of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0011123
12 allergy 60 33 frequent (33%) Frequent (79-30%) HP:0012393
13 lack of t cell function 60 33 frequent (33%) Frequent (79-30%) HP:0005354
14 pulmonary insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0010444
15 absence of lymph node germinal center 60 33 frequent (33%) Frequent (79-30%) HP:0002849
16 anti-thyroid peroxidase antibody positivity 60 33 frequent (33%) Frequent (79-30%) HP:0025379
17 increased circulating total ige level 33 frequent (33%) HP:0003212
18 splenomegaly 33 HP:0001744
19 hepatomegaly 33 HP:0002240
20 platyspondyly 33 HP:0000926
21 autoimmunity 60 Frequent (79-30%)
22 lymphopenia 60 Frequent (79-30%)
23 asthma 33 HP:0002099
24 abnormality of pelvic girdle bone morphology 33 HP:0002644
25 pneumonia 33 HP:0002090
26 recurrent bacterial infections 33 HP:0002718
27 decreased circulating iga level 33 HP:0002720
28 recurrent viral infections 33 HP:0004429
29 recurrent fungal infections 33 HP:0002841
30 eosinophilia 33 HP:0001880
31 decreased circulating total igm 33 HP:0002850
32 autoimmune hemolytic anemia 33 HP:0001890
33 autoimmune thrombocytopenia 33 HP:0001973
34 increased ige level 60 Frequent (79-30%)
35 severe combined immunodeficiency 33 HP:0004430
36 anterior rib cupping 33 HP:0000907
37 aplasia of the thymus 33 HP:0005359
38 b-cell lymphoma 33 HP:0012191
39 abnormality of humoral immunity 60 Frequent (79-30%)
40 severe b lymphocytopenia 33 HP:0005365
41 absent specific antibody response 33 HP:0005424
42 diffuse mesangial sclerosis 33 HP:0001967
43 decreased circulating igg2 level 33 HP:0008348
44 reduced red cell adenosine deaminase activity 33 HP:0030273

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Skeletal Spine:
platyspondyly

Respiratory Airways:
asthma

Respiratory Lung:
pneumonia

Neoplasia:
b-cell lymphoma

Genitourinary Kidneys:
mesangial sclerosis

Skeletal Limbs:
thick growth arrest lines

Abdomen Spleen:
splenomegaly

Respiratory Nasopharynx:
sinusitis

Immunology:
lymphopenia
frequent fungal, viral, and opportunistic infections
absent b cells
absent t cells
absent or reduced cd3+ cells
more
Abdomen Gastrointestinal:
diarrhea

Hematology:
eosinophilia
autoimmune hemolytic anemia
idiopathic thrombocytopenia

Chest External Features:
cupping and flaring of costochondral junctions

Skeletal Pelvis:
pelvic dysplasia

Laboratory Abnormalities:
reduced erythrocyte adenosine deaminase activity
increased ige levels
low or absent iga levels
low or absent igm levels
absent igg2 subclass
more

Clinical features from OMIM:

102700

Drugs & Therapeutics for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Drugs for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# 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 Peripheral Nervous System Agents Phase 1, Phase 2,Phase 2,Not Applicable
4 Neurotransmitter Agents Phase 1, Phase 2,Phase 2,Not Applicable
5 Analgesics Phase 1, Phase 2,Phase 2,Not Applicable
6 Anti-Arrhythmia Agents Phase 1, Phase 2,Phase 2,Not Applicable
7 Vasodilator Agents 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 Dermatologic Agents Phase 1
12 Antirheumatic Agents Phase 1
13 Cyclosporins Phase 1
14 Antitubercular Agents Phase 1
15 Antifungal Agents Phase 1
16 Immunosuppressive Agents Phase 1
17 Antibiotics, Antitubercular Phase 1
18 Immunologic Factors Phase 1
19 Anti-Infective Agents Phase 1
20 Calcineurin Inhibitors Phase 1
21 Anti-Bacterial Agents Phase 1
22
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
23
tannic acid Approved 1401-55-4

Interventional clinical trials:

(show all 23)
# 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 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, 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 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
7 Gene Therapy for Patients With ADA Adenosine Deaminase (ADA) Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Lentiviral transduced CD34+ cells
8 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
9 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Completed NCT01852071 Phase 1, Phase 2
10 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Active, not recruiting NCT01380990 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 Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents Withdrawn NCT01182857
15 Registry Study of Revcovi Treatment in Patients With ADA-SCID Not yet recruiting NCT03878069
16 Strimvelis Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Recruiting NCT03478670
17 Gene Transfer for ADA-SCID Using an Improved Lentiviral Vector (TYF-ADA) Not yet recruiting NCT03645460 Not Applicable
18 Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs) Recruiting NCT03232203 STRIMVELIS
19 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
20 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
21 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
22 Natural History Study of SCID Disorders Recruiting NCT01186913
23 The Role of Bacteria and Genetic Variations in Cystic Fibrosis Completed NCT00043225

Search NIH Clinical Center for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency

Genetic Tests for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Genetic tests related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Due to Ada Deficiency 30 ADA
2 Partial Adenosine Deaminase Deficiency 30

Anatomical Context for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards organs/tissues related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

42
T Cells, B Cells, Nk Cells, Bone, Bone Marrow, Thyroid, Lymph Node

Publications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Articles related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

(show all 33)
# Title Authors Year
1
Carrier testing for severe childhood recessive diseases by next-generation sequencing. ( 21228398 )
2011
2
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. ( 19665771 )
2009
3
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. ( 9414266 )
1998
4
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. ( 9361033 )
1997
5
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. ( 9225964 )
1997
6
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. ( 8673127 )
1996
7
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. ( 8614422 )
1996
8
An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. ( 8031011 )
1994
9
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
10
Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. ( 8120281 )
1994
11
Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. ( 8051429 )
1994
12
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions. ( 1284479 )
1992
13
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID). ( 1346349 )
1992
14
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). ( 1680289 )
1991
15
Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients. ( 1696926 )
1990
16
Hot spot mutations in adenosine deaminase deficiency. ( 2166947 )
1990
17
Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. ( 1974554 )
1990
18
A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. ( 2773932 )
1989
19
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. ( 2783588 )
1989
20
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. ( 3182793 )
1988
21
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. ( 3366897 )
1988
22
Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. ( 3304460 )
1987
23
Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. ( 3475710 )
1987
24
Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene. ( 3684597 )
1987
25
Partial adenosine deaminase deficiency: another family from southern Africa. ( 3781559 )
1986
26
One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. ( 3007108 )
1986
27
Complete and partial adenosine deaminase deficiency. Relationship of immune function to metabolite concentrations, enzyme activity, and effects of therapy. ( 3907453 )
1985
28
Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines. ( 3871777 )
1985
29
Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. ( 3839802 )
1985
30
Genetic heterogeneity in partial adenosine deaminase deficiency. ( 6863546 )
1983
31
Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease. ( 498598 )
1979
32
Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. ( 980079 )
1976
33
Adenosine-deaminase deficiency in a child diagnosed prenatally. ( 46025 )
1975

Variations for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

76 (show all 27)
# Symbol AA change Variation ID SNP ID
1 ADA p.His15Asp VAR_002210 rs121908725
2 ADA p.Gly20Arg VAR_002211 rs121908724
3 ADA p.Gly74Cys VAR_002212 rs121908730
4 ADA p.Arg76Trp VAR_002213 rs121908736
5 ADA p.Ala83Asp VAR_002215 rs121908726
6 ADA p.Arg101Leu VAR_002216 rs121908714
7 ADA p.Arg101Trp VAR_002217 rs121908717
8 ADA p.Arg101Gln VAR_002218 rs121908714
9 ADA p.Leu107Pro VAR_002219 rs121908739
10 ADA p.Val129Met VAR_002220 rs121908731
11 ADA p.Gly140Glu VAR_002221 rs121908732
12 ADA p.Arg149Gln VAR_002223 rs121908737
13 ADA p.Arg149Trp VAR_002224 rs121908733
14 ADA p.Arg156Cys VAR_002226 rs121908735
15 ADA p.Arg156His VAR_002227 rs121908722
16 ADA p.Val177Met VAR_002228 rs121908719
17 ADA p.Ala179Asp VAR_002229 rs121908727
18 ADA p.Gln199Pro VAR_002230 rs121908734
19 ADA p.Arg211Cys VAR_002231 rs121908740
20 ADA p.Arg211His VAR_002232 rs121908716
21 ADA p.Ala215Thr VAR_002233 rs114025668
22 ADA p.Gly216Arg VAR_002234 rs121908723
23 ADA p.Pro274Leu VAR_002236 rs121908738
24 ADA p.Ser291Leu VAR_002237 rs121908721
25 ADA p.Pro297Gln VAR_002238 rs121908718
26 ADA p.Leu304Arg VAR_002239 rs199422327
27 ADA p.Ala329Val VAR_002240 rs121908715

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency:

6 (show top 50) (show all 206)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA NM_000022.3(ADA): c.220G> T (p.Gly74Cys) single nucleotide variant not provided rs121908730 GRCh37 Chromosome 20, 43255239: 43255239
2 ADA NM_000022.3(ADA): c.220G> T (p.Gly74Cys) single nucleotide variant not provided rs121908730 GRCh38 Chromosome 20, 44626598: 44626598
3 ADA NM_000022.3(ADA): c.248C> A (p.Ala83Asp) single nucleotide variant not provided rs121908726 GRCh37 Chromosome 20, 43255211: 43255211
4 ADA NM_000022.3(ADA): c.248C> A (p.Ala83Asp) single nucleotide variant not provided rs121908726 GRCh38 Chromosome 20, 44626570: 44626570
5 ADA NM_000022.3(ADA): c.302G> T (p.Arg101Leu) single nucleotide variant not provided rs121908714 GRCh37 Chromosome 20, 43255157: 43255157
6 ADA NM_000022.3(ADA): c.302G> T (p.Arg101Leu) single nucleotide variant not provided rs121908714 GRCh38 Chromosome 20, 44626516: 44626516
7 ADA NM_000022.3(ADA): c.385G> A (p.Val129Met) single nucleotide variant not provided rs121908731 GRCh37 Chromosome 20, 43254303: 43254303
8 ADA NM_000022.3(ADA): c.385G> A (p.Val129Met) single nucleotide variant not provided rs121908731 GRCh38 Chromosome 20, 44625662: 44625662
9 ADA NM_000022.3(ADA): c.419G> A (p.Gly140Glu) single nucleotide variant not provided rs121908732 GRCh37 Chromosome 20, 43254269: 43254269
10 ADA NM_000022.3(ADA): c.419G> A (p.Gly140Glu) single nucleotide variant not provided rs121908732 GRCh38 Chromosome 20, 44625628: 44625628
11 ADA NM_000022.2(ADA): c.425G> A (p.Arg142Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61732239 GRCh37 Chromosome 20, 43254263: 43254263
12 ADA NM_000022.2(ADA): c.425G> A (p.Arg142Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61732239 GRCh38 Chromosome 20, 44625622: 44625622
13 ADA NM_000022.2(ADA): c.43C> G (p.His15Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121908725 GRCh37 Chromosome 20, 43264920: 43264920
14 ADA NM_000022.2(ADA): c.43C> G (p.His15Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121908725 GRCh38 Chromosome 20, 44636279: 44636279
15 ADA NM_000022.3(ADA): c.445C> T (p.Arg149Trp) single nucleotide variant Uncertain significance rs121908733 GRCh37 Chromosome 20, 43254243: 43254243
16 ADA NM_000022.3(ADA): c.445C> T (p.Arg149Trp) single nucleotide variant Uncertain significance rs121908733 GRCh38 Chromosome 20, 44625602: 44625602
17 ADA NM_000022.3(ADA): c.529G> A (p.Val177Met) single nucleotide variant Likely pathogenic rs121908719 GRCh37 Chromosome 20, 43252920: 43252920
18 ADA NM_000022.3(ADA): c.529G> A (p.Val177Met) single nucleotide variant Likely pathogenic rs121908719 GRCh38 Chromosome 20, 44624279: 44624279
19 ADA NM_000022.3(ADA): c.536C> A (p.Ala179Asp) single nucleotide variant not provided rs121908727 GRCh37 Chromosome 20, 43252913: 43252913
20 ADA NM_000022.3(ADA): c.536C> A (p.Ala179Asp) single nucleotide variant not provided rs121908727 GRCh38 Chromosome 20, 44624272: 44624272
21 ADA NM_000022.2(ADA): c.58G> A (p.Gly20Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908724 GRCh37 Chromosome 20, 43264905: 43264905
22 ADA NM_000022.2(ADA): c.58G> A (p.Gly20Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908724 GRCh38 Chromosome 20, 44636264: 44636264
23 ADA NM_000022.3(ADA): c.596A> C (p.Gln199Pro) single nucleotide variant not provided rs121908734 GRCh37 Chromosome 20, 43252853: 43252853
24 ADA NM_000022.3(ADA): c.596A> C (p.Gln199Pro) single nucleotide variant not provided rs121908734 GRCh38 Chromosome 20, 44624212: 44624212
25 ADA NM_000022.3(ADA): c.*282C> T single nucleotide variant Uncertain significance rs188755077 GRCh38 Chromosome 20, 44619552: 44619552
26 ADA NM_000022.3(ADA): c.*282C> T single nucleotide variant Uncertain significance rs188755077 GRCh37 Chromosome 20, 43248193: 43248193
27 ADA NM_000022.3(ADA): c.*174T> A single nucleotide variant Uncertain significance rs886056706 GRCh38 Chromosome 20, 44619660: 44619660
28 ADA NM_000022.3(ADA): c.532delG (p.Val178Terfs) deletion Likely pathogenic rs886041796 GRCh38 Chromosome 20, 44624276: 44624276
29 ADA NM_000022.3(ADA): c.532delG (p.Val178Terfs) deletion Likely pathogenic rs886041796 GRCh37 Chromosome 20, 43252917: 43252917
30 ADA GRCh37/hg19 20q13.12(chr20: 43264839-43265435) copy number gain Pathogenic GRCh37 Chromosome 20, 43264839: 43265435
31 ADA NM_000022.4(ADA): c.478+6T> C single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 20, 43254204: 43254204
32 ADA NM_000022.4(ADA): c.478+6T> C single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 20, 44625563: 44625563
33 ADA NM_000022.4: c.367delG deletion no interpretation for the single variant GRCh37 Chromosome 20, 43254321: 43254321
34 ADA NM_000022.4: c.367delG deletion no interpretation for the single variant GRCh38 Chromosome 20, 44625683: 44625683
35 ADA NM_000022.4(ADA): c.455T> C (p.Leu152Pro) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 20, 43254233: 43254233
36 ADA NM_000022.4(ADA): c.455T> C (p.Leu152Pro) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 20, 44625592: 44625592
37 ADA NM_000022.3(ADA): c.260T> C (p.Val87Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 44626558: 44626558
38 ADA NM_000022.3(ADA): c.260T> C (p.Val87Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 43255199: 43255199
39 ADA NM_000022.3(ADA): c.311C> T (p.Pro104Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 43255148: 43255148
40 ADA NM_000022.3(ADA): c.311C> T (p.Pro104Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 44626507: 44626507
41 ADA NM_000022.3(ADA): c.61T> G (p.Ser21Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 43264902: 43264902
42 ADA NM_000022.3(ADA): c.61T> G (p.Ser21Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 44636261: 44636261
43 ADA NC_000020.11: g.(?_44651555)_(44651627_?)del deletion Pathogenic GRCh38 Chromosome 20, 44651555: 44651627
44 ADA NC_000020.11: g.(?_44651555)_(44651627_?)del deletion Pathogenic GRCh37 Chromosome 20, 43280196: 43280268
45 ADA NM_000022.3(ADA): c.525G> A (p.Gln175=) single nucleotide variant Likely benign rs769506264 GRCh37 Chromosome 20, 43252924: 43252924
46 ADA NM_000022.3(ADA): c.525G> A (p.Gln175=) single nucleotide variant Likely benign rs769506264 GRCh38 Chromosome 20, 44624283: 44624283
47 ADA NM_000022.3(ADA): c.831G> T (p.Glu277Asp) single nucleotide variant Uncertain significance rs542229902 GRCh38 Chromosome 20, 44622602: 44622602
48 ADA NM_000022.3(ADA): c.831G> T (p.Glu277Asp) single nucleotide variant Uncertain significance rs542229902 GRCh37 Chromosome 20, 43251243: 43251243
49 ADA NM_000022.3(ADA): c.6C> T (p.Ala2=) single nucleotide variant Likely benign rs767788896 GRCh37 Chromosome 20, 43280243: 43280243
50 ADA NM_000022.3(ADA): c.6C> T (p.Ala2=) single nucleotide variant Likely benign rs767788896 GRCh38 Chromosome 20, 44651602: 44651602

Expression for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency.

Pathways for Severe Combined Immunodeficiency, Autosomal Recessive, T...

GO Terms for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Sources for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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