MCID: SVR022
MIFTS: 16

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 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related and scid, autosomal recessive, t-negative/b-positive type. 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related30.8RAG1, RAG2
2scid, autosomal recessive, t-negative/b-positive type12.0
3severe combined immunodeficiency, b cell-negative11.3
4severe combined immunodeficiency, athabascan type11.0
5severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.9
6zap70-related severe combined immunodeficiency10.9
7severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related10.9
8severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related10.9
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related10.9
10severe combined immunodeficiency10.1
11omenn syndrome9.8
12alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity9.6RAG1, RAG2
13severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related9.6RAG1, RAG2
14denys-drash syndrome9.5RAG1, RAG2
15silicosis9.5RAG1, RAG2
16heart lipoma9.5RAG1, RAG2
17autoimmune thyroid disease 49.3RAG1, RAG2

Graphical network of 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 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:

35
B cells, T cells, Nk cells

Animal Models for Severe Combined Immune Deficiency, Autosomal Recessive, T... or affiliated genes

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAG1RAG1, 1-BP DEL, 631TdeletionPathogenicChr na, -1: -1

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

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
1pre-B cell allelic exclusionGO:00023319.5RAG1, RAG2
2B cell differentiationGO:00301839.1RAG1, RAG2
3T cell differentiation in thymusGO:00330779.1RAG1, RAG2
4V(D)J recombinationGO:00331519.0RAG1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet