MCID: RCM002
MIFTS: 16

Recombinase Activating Gene 1 Deficiency

Categories: Immune diseases

Aliases & Classifications for Recombinase Activating Gene 1 Deficiency

MalaCards integrated aliases for Recombinase Activating Gene 1 Deficiency:

Name: Recombinase Activating Gene 1 Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060011

Summaries for Recombinase Activating Gene 1 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.

MalaCards based summary : Recombinase Activating Gene 1 Deficiency is related to omenn syndrome and combined cellular and humoral immune defects with granulomas. An important gene associated with Recombinase Activating Gene 1 Deficiency is RAG1 (Recombination Activating 1), and among its related pathways/superpathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include bone and bone marrow.

Related Diseases for Recombinase Activating Gene 1 Deficiency

Diseases related to Recombinase Activating Gene 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omenn syndrome 28.9 RAG1 RAG2
2 combined cellular and humoral immune defects with granulomas 9.6 RAG1 RAG2
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 9.6 RAG1 RAG2
4 malignant histiocytosis 9.5 RAG1 RAG2
5 lig4 syndrome 9.5 RAG1 RAG2
6 combined immunodeficiency, x-linked 9.4 RAG1 RAG2
7 immune deficiency disease 9.2 RAG1 RAG2
8 severe combined immunodeficiency 9.0 RAG1 RAG2

Graphical network of the top 20 diseases related to Recombinase Activating Gene 1 Deficiency:



Diseases related to Recombinase Activating Gene 1 Deficiency

Symptoms & Phenotypes for Recombinase Activating Gene 1 Deficiency

Drugs & Therapeutics for Recombinase Activating Gene 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Recombinase Activating Gene 1 Deficiency

Genetic Tests for Recombinase Activating Gene 1 Deficiency

Anatomical Context for Recombinase Activating Gene 1 Deficiency

MalaCards organs/tissues related to Recombinase Activating Gene 1 Deficiency:

41
Bone, Bone Marrow

Publications for Recombinase Activating Gene 1 Deficiency

Articles related to Recombinase Activating Gene 1 Deficiency:

# Title Authors Year
1
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. ( 27081423 )
2016
2
Novel mutatA+ons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. ( 22424479 )
2012

Variations for Recombinase Activating Gene 1 Deficiency

Expression for Recombinase Activating Gene 1 Deficiency

Search GEO for disease gene expression data for Recombinase Activating Gene 1 Deficiency.

Pathways for Recombinase Activating Gene 1 Deficiency

Pathways related to Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

# 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 Recombinase Activating Gene 1 Deficiency

Biological processes related to Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 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 Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

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

Sources for Recombinase Activating Gene 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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