MCID: SVR022
MIFTS: 17

Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related malady

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Aliases & Descriptions for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

Name: Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related 24
B Cell-Negative Severe Combined Immunodeficiency 24
Scid, Autosomal Recessive 24

Classifications:



Summaries for Severe Combined Immune Deficiency, Autosomal Recessive, T...

MalaCards based summary : Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related, also known as b cell-negative severe combined immunodeficiency, is related to scid, autosomal recessive, t-negative/b-positive type and severe combined immunodeficiency, b cell-negative. An important gene associated with Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related is RAG1 (Recombination Activating 1), and among its related pathways/superpathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include b cells, t cells and nk cells.

Related Diseases for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Diseases related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
id Related Disease Score Top Affiliating Genes
1 scid, autosomal recessive, t-negative/b-positive type 12.0
2 severe combined immunodeficiency, b cell-negative 11.3
3 severe combined immunodeficiency, athabascan type 11.0
4 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related 10.9
5 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 10.9
6 zap70-related severe combined immunodeficiency 10.9
7 severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related 10.9
8 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related 10.9
9 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related 10.9
10 severe combined immunodeficiency 10.1
11 slc6a20-related hyperglycinuria 9.9 RAG1 RAG2
12 interleukin-7 receptor alpha deficiency 9.9 RAG1 RAG2
13 combined cellular and humoral immune defects with granulomas 9.9 RAG1 RAG2
14 nephrotic syndrome, type 4 9.9 RAG1 RAG2
15 slc16a1-related hyperinsulinism 9.9 RAG1 RAG2
16 ectopic thymus 9.9 RAG1 RAG2
17 omenn syndrome 9.8
18 porencephaly 1 9.8 RAG1 RAG2
19 single ventricular heart 9.8 RAG1 RAG2
20 childhood choriocarcinoma of the testis 9.8 RAG1 RAG2
21 cockayne syndrome, type b 9.7 RAG1 RAG2

Graphical network of the top 20 diseases related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:



Diseases related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related

Symptoms & Phenotypes for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Drugs & Therapeutics for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related

Genetic Tests for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Genetic tests related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

id Genetic test Affiliating Genes
1 Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related 24 RAG1 RAG2

Anatomical Context for Severe Combined Immune Deficiency, Autosomal Recessive, T...

MalaCards organs/tissues related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

39
B Cells, T Cells, Nk Cells

Publications for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Variations for Severe Combined Immune Deficiency, Autosomal Recessive, T...

ClinVar genetic disease variations for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAG2 NM_000536.3(RAG2): c.1433G> A (p.Cys478Tyr) single nucleotide variant Pathogenic rs121918573 GRCh37 Chromosome 11, 36614286: 36614286
2 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Pathogenic rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
3 RAG2 RAG2, 3-BP DEL, NT2018 deletion Pathogenic
4 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
5 RAG1 NM_000448.2(RAG1): c.2164G> A (p.Glu722Lys) single nucleotide variant Pathogenic rs28933392 GRCh37 Chromosome 11, 36597018: 36597018
6 RAG1 NM_000448.2(RAG1): c.2320G> T (p.Glu774Ter) single nucleotide variant Pathogenic rs104894282 GRCh37 Chromosome 11, 36597174: 36597174
7 RAG1 NM_000448.2(RAG1): c.2814T> G (p.Tyr938Ter) single nucleotide variant Pathogenic rs104894283 GRCh37 Chromosome 11, 36597668: 36597668
8 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh37 Chromosome 11, 36596535: 36596535
9 RAG1 RAG1, 1-BP DEL, 631T deletion Pathogenic
10 RAG1 NM_000448.2(RAG1): c.2326C> T (p.Arg776Trp) single nucleotide variant Pathogenic rs121918572 GRCh37 Chromosome 11, 36597180: 36597180

Expression for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Search GEO for disease gene expression data for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related.

Pathways for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Pathways related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 RAG1 RAG2
2 10.52 RAG1 RAG2
3 10.07 RAG1 RAG2

GO Terms for Severe Combined Immune Deficiency, Autosomal Recessive, T...

Biological processes related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.37 RAG1 RAG2
2 DNA recombination GO:0006310 9.32 RAG1 RAG2
3 B cell differentiation GO:0030183 9.26 RAG1 RAG2
4 T cell differentiation in thymus GO:0033077 9.16 RAG1 RAG2
5 V(D)J recombination GO:0033151 8.96 RAG1 RAG2
6 pre-B cell allelic exclusion GO:0002331 8.62 RAG1 RAG2

Molecular functions related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 8.62 RAG1 RAG2

Sources for Severe Combined Immune Deficiency, Autosomal Recessive, T...

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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