Aliases & Classifications for Dna Ligase Iv Deficiency

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Dna Ligase Iv Deficiency, Aliases & Descriptions:

Name: Dna Ligase Iv Deficiency 9 11
 
Lig4 Syndrome 9 60


External Ids:

Disease Ontology9 DOID:0060021

Summaries for Dna Ligase Iv Deficiency

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Disease Ontology:9 A combined t cell and b cell immunodeficiency that is caused by a mutatino in the lig4 gene, a dna ligase, encoding a protein essential for v(d)j recombination and dna double-strand break (dsb) repair through nonhomologous end joining (nhej). patients present with immunodeficiency and developmental and growth delay.

MalaCards based summary: Dna Ligase Iv Deficiency, also known as lig4 syndrome, is related to nijmegen breakage syndrome and lig4 syndrome. An important gene associated with Dna Ligase Iv Deficiency is LIG4 (ligase IV, DNA, ATP-dependent), and among its related pathways is Non-homologous end-joining. Affiliated tissues include t cells, b cells and bone marrow, and related mouse phenotype tumorigenesis.

Related Diseases for Dna Ligase Iv Deficiency

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Diseases related to Dna Ligase Iv Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nijmegen breakage syndrome29.7LIG4, NHEJ1
2lig4 syndrome10.3
3severe combined immunodeficiency10.1LIG4
4b-cell lymphomas10.1
5seckel syndrome10.1

Graphical network of diseases related to Dna Ligase Iv Deficiency:



Diseases related to dna ligase iv deficiency

Symptoms for Dna Ligase Iv Deficiency

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Drugs & Therapeutics for Dna Ligase Iv Deficiency

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Drug clinical trials:

Search ClinicalTrials for Dna Ligase Iv Deficiency

Search NIH Clinical Center for Dna Ligase Iv Deficiency

Genetic Tests for Dna Ligase Iv Deficiency

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Anatomical Context for Dna Ligase Iv Deficiency

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MalaCards organs/tissues related to Dna Ligase Iv Deficiency:

31
T cells, B cells, Bone marrow, Bone

Animal Models for Dna Ligase Iv Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Dna Ligase Iv Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1LIG4, NHEJ1

Publications for Dna Ligase Iv Deficiency

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Articles related to Dna Ligase Iv Deficiency:

idTitleAuthorsYear
1
A novel mutation in a family with DNA ligase IV deficiency syndrome. (19418549)
2009
2
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. (17224058)
2007
3
Ku80- and DNA ligase IV-deficient plants are sensitive to ionizing radiation and defective in T-DNA integration. (12753583)
2003
4
The embryonic lethality in DNA ligase IV-deficient mice is rescued by deletion of Ku: implications for unifying the heterogeneous phenotypes of NHEJ mutants. (12531011)
2002
5
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. (11040211)
2000
6
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. (10911993)
2000

Variations for Dna Ligase Iv Deficiency

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Expression for genes affiliated with Dna Ligase Iv Deficiency

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Search GEO for disease gene expression data for Dna Ligase Iv Deficiency.

Pathways for genes affiliated with Dna Ligase Iv Deficiency

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Pathways related to Dna Ligase Iv Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Non-homologous end joining36
DNA damage NHEJ mechanisms of DSBs repair58
9.1LIG4, NHEJ1

Compounds for genes affiliated with Dna Ligase Iv Deficiency

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GO Terms for genes affiliated with Dna Ligase Iv Deficiency

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Cellular components related to Dna Ligase Iv Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:00704199.1LIG4, NHEJ1

Biological processes related to Dna Ligase Iv Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:00074179.1LIG4, NHEJ1
2double-strand break repair via nonhomologous end joiningGO:00063038.8LIG4, NHEJ1

Molecular functions related to Dna Ligase Iv Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036779.1LIG4, NHEJ1

Products for genes affiliated with Dna Ligase Iv Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dna Ligase Iv Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet