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 (common), Immune diseases

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

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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...

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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 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...

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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)
idRelated DiseaseScoreTop Affiliating Genes
1scid, autosomal recessive, t-negative/b-positive type12.0
2severe combined immunodeficiency, b cell-negative11.3
3severe combined immunodeficiency, athabascan type11.0
4severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.9
5zap70-related severe combined immunodeficiency10.9
6severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related10.9
7severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related10.9
8severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related10.9
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related10.9
10severe combined immunodeficiency10.1
11slc6a20-related hyperglycinuria9.9RAG1, RAG2
12interleukin-7 receptor alpha deficiency9.9RAG1, RAG2
13combined cellular and humoral immune defects with granulomas9.9RAG1, RAG2
14nephrotic syndrome, type 49.9RAG1, RAG2
15slc16a1-related hyperinsulinism9.9RAG1, RAG2
16ectopic thymus9.9RAG1, RAG2
17omenn syndrome9.8
18porencephaly 19.8RAG1, RAG2
19single ventricular heart9.8RAG1, RAG2
20childhood choriocarcinoma of the testis9.8RAG1, RAG2
21cockayne syndrome, type b9.7RAG1, 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...

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

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Interventional clinical trials:

Search ClinicalTrials, 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...

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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-Related24 RAG1, RAG2

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

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

36
B cells, T cells, Nk cells

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

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

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Expression for genes affiliated with Severe Combined Immune Deficiency, Autosomal Recessive, T...

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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 genes affiliated with Severe Combined Immune Deficiency, Autosomal Recessive, T...

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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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1RAG1, RAG2
29.1RAG1, RAG2
39.1RAG1, RAG2

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

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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:

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:00301839.8RAG1, RAG2
2covalent chromatin modificationGO:00165699.7RAG1, RAG2
3DNA recombinationGO:00063109.6RAG1, RAG2
4pre-B cell allelic exclusionGO:00023319.6RAG1, RAG2
5T cell differentiation in thymusGO:00330779.4RAG1, RAG2
6V(D)J recombinationGO:00331519.1RAG1, 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:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase activityGO:00616309.1RAG1, RAG2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet