ADASCID
MCID: SVR095
MIFTS: 39

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

Categories: Genetic diseases, Metabolic diseases, Blood diseases, Rare diseases, Immune 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 57 6
Severe Combined Immunodeficiency Due to Ada Deficiency 57 75 29 6 40
Partial Adenosine Deaminase Deficiency 29 6 73
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 59 73
Adenosine Deaminase Deficiency, Partial 57 13
Adenosine Deaminase Deficiency 75 73
Scid Due to Ada Deficiency 57 75
Ada Deficiency 59 75
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Negative Due to Adenosine Deaminase Deficiency 75
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Negative Due to Adenosine Deaminase Deficiency 75
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b Cell-Negative/nk Cell-Negative Due to Adenosine Deaminase Deficiency 75
Scid Due to Adenosine Deaminase Deficiency 59
Scid Due to Ada Deficiency, Early-Onset 57
Ada-Scid 57
Adascid 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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 : 75 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 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:

# Related Disease Score Top Affiliating Genes
1 adenosine deaminase deficiency 12.1
2 combined immunodeficiency, x-linked 10.2
3 severe combined immunodeficiency 10.2

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

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

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

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 Frequent (79-30%) HP:0001508
2 sinusitis 59 32 Frequent (79-30%) HP:0000246
3 diarrhea 59 32 Frequent (79-30%) HP:0002014
4 b lymphocytopenia 59 32 Frequent (79-30%) HP:0010976
5 increased ige level 59 32 Frequent (79-30%) HP:0003212
6 splenomegaly 32 HP:0001744
7 hepatomegaly 32 HP:0002240
8 recurrent upper respiratory tract infections 59 Frequent (79-30%)
9 platyspondyly 32 HP:0000926
10 recurrent otitis media 59 Frequent (79-30%)
11 autoimmunity 59 Frequent (79-30%)
12 lymphopenia 59 Frequent (79-30%)
13 asthma 32 HP:0002099
14 recurrent pneumonia 59 Frequent (79-30%)
15 abnormality of pelvic girdle bone morphology 32 HP:0002644
16 recurrent bacterial infections 32 HP:0002718
17 recurrent viral infections 32 HP:0004429
18 decrease in t cell count 59 Frequent (79-30%)
19 pneumonia 32 HP:0002090
20 recurrent fungal infections 32 HP:0002841
21 iga deficiency 32 HP:0002720
22 eosinophilia 32 HP:0001880
23 igm deficiency 32 HP:0002850
24 autoimmune hemolytic anemia 32 HP:0001890
25 autoimmune thrombocytopenia 32 HP:0001973
26 severe combined immunodeficiency 32 HP:0004430
27 inflammatory abnormality of the skin 59 Frequent (79-30%)
28 immunoglobulin igg2 deficiency 32 HP:0008348
29 anterior rib cupping 32 HP:0000907
30 allergy 59 Frequent (79-30%)
31 aplasia of the thymus 32 HP:0005359
32 b-cell lymphoma 32 HP:0012191
33 pulmonary insufficiency 59 Frequent (79-30%)
34 severe b lymphocytopenia 32 HP:0005365
35 absence of lymph node germinal center 59 Frequent (79-30%)
36 absent cellular immunity 59 Frequent (79-30%)
37 abnormality of humoral immunity 59 Frequent (79-30%)
38 recurrent opportunistic infections 59 Frequent (79-30%)
39 anti-thyroid peroxidase antibody positivity 59 Frequent (79-30%)
40 absent tonsils 59 Frequent (79-30%)
41 absent specific antibody response 32 HP:0005424
42 diffuse mesangial sclerosis 32 HP:0001967
43 reduced red cell adenosine deaminase activity 32 HP:0030273

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 22)
# 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,Phase 2
4 Anti-Arrhythmia Agents Phase 1, Phase 2,Phase 2
5 Neurotransmitter Agents Phase 1, Phase 2,Phase 2
6 Peripheral Nervous System Agents Phase 1, Phase 2,Phase 2
7 Vasodilator Agents Phase 1, Phase 2,Phase 2
8 Anesthetics Phase 1, Phase 2
9
Zidovudine Approved Phase 1 30516-87-1 35370
10
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
11
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 1 24280-93-1 446541
13 Anti-Bacterial Agents Phase 1
14 Antibiotics, Antitubercular Phase 1
15 Antifungal Agents Phase 1
16 Anti-Infective Agents Phase 1
17 Antirheumatic Agents Phase 1
18 Antitubercular Agents Phase 1
19 Calcineurin Inhibitors Phase 1
20 Cyclosporins Phase 1
21 Dermatologic Agents Phase 1
22 Immunosuppressive Agents Phase 1

Interventional clinical trials:

(show all 22)
# 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 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
4 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
5 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
6 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
7 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
8 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
9 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
10 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
11 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
12 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
13 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
14 Phase IV, GSK2696273, Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Recruiting NCT03478670
15 Natural History Study of SCID Disorders Recruiting NCT01186913
16 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
17 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
18 The Role of Bacteria and Genetic Variations in Cystic Fibrosis Recruiting NCT00043225
19 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
20 Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs) Not yet recruiting NCT03232203 STRIMVELIS
21 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
22 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 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 29 ADA
2 Partial Adenosine Deaminase Deficiency 29

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:

41
T Cells, B Cells, Nk Cells, Bone, Bone Marrow, Thymus, Tonsil

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:

# Title Authors Year
1
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. ( 19665771 )
2009
2
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. ( 9225964 )
1997
3
Partial adenosine deaminase deficiency: another family from southern Africa. ( 3781559 )
1986
4
Genetic expression in partial adenosine deaminase deficiency. mRNA levels and protein turnover for the enzyme variants in human B-lymphoblast cell lines. ( 3871777 )
1985
5
Complete and partial adenosine deaminase deficiency. Relationship of immune function to metabolite concentrations, enzyme activity, and effects of therapy. ( 3907453 )
1985
6
Genetic heterogeneity in partial adenosine deaminase deficiency. ( 6863546 )
1983

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:

75 (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 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA NM_000022.3(ADA): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121908717 GRCh37 Chromosome 20, 43255158: 43255158
2 ADA NM_000022.3(ADA): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121908717 GRCh38 Chromosome 20, 44626517: 44626517
3 ADA NM_000022.3(ADA): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121908714 GRCh37 Chromosome 20, 43255157: 43255157
4 ADA NM_000022.3(ADA): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121908714 GRCh38 Chromosome 20, 44626516: 44626516
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.632G> A (p.Arg211His) single nucleotide variant Pathogenic rs121908716 GRCh38 Chromosome 20, 44623053: 44623053
7 ADA NM_000022.3(ADA): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic rs199422327 GRCh37 Chromosome 20, 43249723: 43249723
8 ADA NM_000022.3(ADA): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic rs199422327 GRCh38 Chromosome 20, 44621082: 44621082
9 ADA NM_000022.3(ADA): c.986C> T (p.Ala329Val) single nucleotide variant Pathogenic rs121908715 GRCh37 Chromosome 20, 43249032: 43249032
10 ADA NM_000022.3(ADA): c.986C> T (p.Ala329Val) single nucleotide variant Pathogenic rs121908715 GRCh38 Chromosome 20, 44620391: 44620391
11 ADA ADA, 3.25-KB DEL, ALU-RELATED deletion Pathogenic
12 ADA NM_000022.3(ADA): c.890C> A (p.Pro297Gln) single nucleotide variant Pathogenic rs121908718 GRCh37 Chromosome 20, 43249744: 43249744
13 ADA NM_000022.3(ADA): c.890C> A (p.Pro297Gln) single nucleotide variant Pathogenic rs121908718 GRCh38 Chromosome 20, 44621103: 44621103
14 ADA NM_000022.3(ADA): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs121908737 GRCh37 Chromosome 20, 43254242: 43254242
15 ADA NM_000022.3(ADA): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs121908737 GRCh38 Chromosome 20, 44625601: 44625601
16 ADA NM_000022.3(ADA): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs121908738 GRCh37 Chromosome 20, 43251253: 43251253
17 ADA NM_000022.3(ADA): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs121908738 GRCh38 Chromosome 20, 44622612: 44622612
18 ADA NM_000022.3(ADA): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121908739 GRCh37 Chromosome 20, 43255139: 43255139
19 ADA NM_000022.3(ADA): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121908739 GRCh38 Chromosome 20, 44626498: 44626498
20 ADA NM_000022.3(ADA): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs121908740 GRCh37 Chromosome 20, 43251695: 43251695
21 ADA NM_000022.3(ADA): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs121908740 GRCh38 Chromosome 20, 44623054: 44623054
22 ADA NM_000022.3(ADA): c.643G> A (p.Ala215Thr) single nucleotide variant Pathogenic rs114025668 GRCh37 Chromosome 20, 43251683: 43251683
23 ADA NM_000022.3(ADA): c.643G> A (p.Ala215Thr) single nucleotide variant Pathogenic rs114025668 GRCh38 Chromosome 20, 44623042: 44623042
24 ADA NM_000022.3(ADA): c.646G> A (p.Gly216Arg) single nucleotide variant Pathogenic rs121908723 GRCh37 Chromosome 20, 43251680: 43251680
25 ADA NM_000022.3(ADA): c.646G> A (p.Gly216Arg) single nucleotide variant Pathogenic rs121908723 GRCh38 Chromosome 20, 44623039: 44623039
26 ADA NM_000022.3(ADA): c.219-2A> G single nucleotide variant Pathogenic rs387906267 GRCh37 Chromosome 20, 43255242: 43255242
27 ADA NM_000022.3(ADA): c.219-2A> G single nucleotide variant Pathogenic rs387906267 GRCh38 Chromosome 20, 44626601: 44626601
28 ADA NM_000022.3(ADA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs121908735 GRCh37 Chromosome 20, 43254222: 43254222
29 ADA NM_000022.3(ADA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs121908735 GRCh38 Chromosome 20, 44625581: 44625581
30 ADA NM_000022.3(ADA): c.872C> T (p.Ser291Leu) single nucleotide variant Pathogenic rs121908721 GRCh37 Chromosome 20, 43249762: 43249762
31 ADA NM_000022.3(ADA): c.872C> T (p.Ser291Leu) single nucleotide variant Pathogenic rs121908721 GRCh38 Chromosome 20, 44621121: 44621121
32 ADA ADA, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
33 ADA LRG_16: g.34081_34084delCAGAins17 indel Pathogenic GRCh37 Chromosome 20, 43251293: 43251296
34 ADA NM_000022.3(ADA): c.33+1G> C single nucleotide variant Pathogenic rs587776534 GRCh37 Chromosome 20, 43280215: 43280215
35 ADA NM_000022.3(ADA): c.33+1G> C single nucleotide variant Pathogenic rs587776534 GRCh38 Chromosome 20, 44651574: 44651574
36 ADA NM_000022.3(ADA): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs199422328 GRCh37 Chromosome 20, 43255238: 43255238
37 ADA NM_000022.3(ADA): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs199422328 GRCh38 Chromosome 20, 44626597: 44626597
38 ADA NM_000022.3(ADA): c.454C> A (p.Leu152Met) single nucleotide variant Pathogenic rs121908728 GRCh37 Chromosome 20, 43254234: 43254234
39 ADA NM_000022.3(ADA): c.454C> A (p.Leu152Met) single nucleotide variant Pathogenic rs121908728 GRCh38 Chromosome 20, 44625593: 44625593
40 ADA NM_000022.3(ADA): c.698C> T (p.Thr233Ile) single nucleotide variant Pathogenic rs121908729 GRCh37 Chromosome 20, 43251552: 43251552
41 ADA NM_000022.3(ADA): c.698C> T (p.Thr233Ile) single nucleotide variant Pathogenic rs121908729 GRCh38 Chromosome 20, 44622911: 44622911
42 ADA NM_000022.3(ADA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs121908722 GRCh37 Chromosome 20, 43254221: 43254221
43 ADA NM_000022.3(ADA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs121908722 GRCh38 Chromosome 20, 44625580: 44625580
44 ADA NM_000022.3(ADA): c.43C> G (p.His15Asp) single nucleotide variant Pathogenic rs121908725 GRCh37 Chromosome 20, 43264920: 43264920
45 ADA NM_000022.3(ADA): c.43C> G (p.His15Asp) single nucleotide variant Pathogenic rs121908725 GRCh38 Chromosome 20, 44636279: 44636279
46 ADA NM_000022.3(ADA): c.58G> A (p.Gly20Arg) single nucleotide variant Likely pathogenic rs121908724 GRCh37 Chromosome 20, 43264905: 43264905
47 ADA NM_000022.3(ADA): c.58G> A (p.Gly20Arg) single nucleotide variant Likely pathogenic rs121908724 GRCh38 Chromosome 20, 44636264: 44636264
48 ADA NM_000022.3(ADA): c.956_960delAAGAG (p.Glu319Glyfs) deletion Pathogenic/Likely pathogenic rs771266745 GRCh37 Chromosome 20, 43249674: 43249678
49 ADA NM_000022.3(ADA): c.956_960delAAGAG (p.Glu319Glyfs) deletion Pathogenic/Likely pathogenic rs771266745 GRCh38 Chromosome 20, 44621033: 44621037
50 ADA NM_000022.3(ADA): c.780+1G> A single nucleotide variant no interpretation for the single variant rs746052951 GRCh37 Chromosome 20, 43251469: 43251469

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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