MCID: DNL001
MIFTS: 33

Dna Ligase Iv Deficiency malady

Category: Immune diseases

Aliases & Classifications for Dna Ligase Iv Deficiency

About this section

Aliases & Descriptions for Dna Ligase Iv Deficiency:

Name: Dna Ligase Iv Deficiency 11 13
 
Lig4 Syndrome 11 66

Classifications:



External Ids:

Disease Ontology11 DOID:0060021

Summaries for Dna Ligase Iv Deficiency

About this section
Disease Ontology:11 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 lig4 syndrome and omenn syndrome. An important gene associated with Dna Ligase Iv Deficiency is LIG4 (DNA Ligase 4), and among its related pathways are DNA Damage Induced 14-3-3Sigma Signaling and p53 signaling pathway. Affiliated tissues include b cells, t cells and skin, and related mouse phenotypes are liver/biliary system and integument.

Related Diseases for Dna Ligase Iv Deficiency

About this section

Graphical network of diseases related to Dna Ligase Iv Deficiency:



Diseases related to dna ligase iv deficiency

Symptoms for Dna Ligase Iv Deficiency

About this section

Drugs & Therapeutics for Dna Ligase Iv Deficiency

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
2Multiple Nutritional Deficiencies Causing Dementia of the Alzheimer TypeRecruitingNCT01479855

Search NIH Clinical Center for Dna Ligase Iv Deficiency

Genetic Tests for Dna Ligase Iv Deficiency

About this section

Anatomical Context for Dna Ligase Iv Deficiency

About this section

MalaCards organs/tissues related to Dna Ligase Iv Deficiency:

34
B cells, T cells, Skin, Bone marrow, Bone, Brain

Animal Models for Dna Ligase Iv Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Dna Ligase Iv Deficiency:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ATR, LIG1, LIG4, NLRP3, PRKDC, RAG1
2MP:00107717.7ATM, ATR, LIG1, NLRP3, PRKDC, RAG1
3MP:00053867.7ATM, ATR, LIG4, NBN, PRKDC, RAG1
4MP:00053897.6ATM, ATR, LIG4, NBN, NLRP3, PRKDC
5MP:00053817.4ATR, LIG4, NLRP3, NOD2, PRKDC, RAG1
6MP:00053796.8ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
7MP:00020066.7ATM, ATR, LIG1, LIG4, NBN, NHEJ1
8MP:00036316.4ATM, ATR, LIG4, NBN, NLRP3, PRKDC
9MP:00107685.6ATM, ATR, LIG1, LIG4, NBN, NLRP3
10MP:00053875.6ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
11MP:00053975.5ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
12MP:00053765.3ATM, ATR, LIG1, LIG4, NBN, NHEJ1
13MP:00053785.3ATM, ATR, LIG1, LIG4, NBN, NLRP3
14MP:00053845.1ATM, ATR, DCLRE1C, LIG1, LIG4, NBN

Publications for Dna Ligase Iv Deficiency

About this section

Articles related to Dna Ligase Iv Deficiency:

idTitleAuthorsYear
1
Molecular and immunological characterization of DNA ligase IV deficiency. (26762768)
2016
2
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma. (26774591)
2016
3
A novel mutation in a family with DNA ligase IV deficiency syndrome. (19418549)
2009
4
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. (17224058)
2007
5
Ku80- and DNA ligase IV-deficient plants are sensitive to ionizing radiation and defective in T-DNA integration. (12753583)
2003
6
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
7
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. (10911993)
2000
8
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. (11040211)
2000

Variations for Dna Ligase Iv Deficiency

About this section

Expression for genes affiliated with Dna Ligase Iv Deficiency

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

Pathways for genes affiliated with Dna Ligase Iv Deficiency

About this section

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

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.9ATM, ATR
2
Show member pathways
9.5ATM, ATR, NBN
3
Show member pathways
9.5ATM, ATR, NBN
49.5ATM, ATR, NBN
59.5PRKDC, XRCC5, XRCC6
6
Show member pathways
9.5ATM, ATR, XRCC5
7
Show member pathways
9.5NBN, XRCC5, XRCC6
89.4ATM, ATR, PRKDC, XRCC4
99.4DCLRE1C, RAG1, RAG2
109.3ATM, NOD2
11
Show member pathways
9.3ATM, RAG1, RAG2
12
Show member pathways
9.3ATM, NBN, XRCC2
139.3ATM, NBN, XRCC2
149.1ATM, NBN, XRCC5, XRCC6
15
Show member pathways
9.1LIG1, LIG4, XRCC4, XRCC5, XRCC6
16
Show member pathways
9.0ATM, ATR, NBN, XRCC2
17
Show member pathways
8.7NOD2, PRKDC, XRCC5, XRCC6
188.6ATM, ATR, NBN, PRKDC, XRCC5, XRCC6
198.5DCLRE1C, LIG4, NBN, PRKDC, XRCC4, XRCC5
20
Show member pathways
7.9ATM, DCLRE1C, LIG4, NBN, NHEJ1, PRKDC
217.9ATM, ATR, DCLRE1C, LIG4, NBN, NHEJ1
22
Show member pathways
7.9ATM, ATR, LIG1, LIG4, NBN, PRKDC
23
Show member pathways
6.9ATM, ATR, DCLRE1C, LIG1, LIG4, NBN

GO Terms for genes affiliated with Dna Ligase Iv Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1DNA ligase IV complexGO:003280710.7LIG4, XRCC4
2nuclear telomere cap complexGO:000078310.5XRCC5, XRCC6
3Ku70:Ku80 complexGO:004356410.4XRCC5, XRCC6
4DNA-dependent protein kinase-DNA ligase 4 complexGO:000595810.4LIG4, PRKDC, XRCC4
5replication forkGO:00056579.9NBN, XRCC2
6nonhomologous end joining complexGO:00704199.1DCLRE1C, LIG4, NHEJ1, PRKDC, XRCC4, XRCC5
7nuclear chromosome, telomeric regionGO:00007848.5ATM, ATR, DCLRE1C, LIG4, NBN, PRKDC
8nucleoplasmGO:00056546.0ATM, ATR, DCLRE1C, LIG1, LIG4, NBN

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

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.7LIG4, PRKDC
2positive regulation of ligase activityGO:005135110.7NHEJ1, XRCC4
3nucleotide-excision repair, DNA gap fillingGO:000629710.7LIG1, LIG4
4immunoglobulin V(D)J recombinationGO:003315210.6LIG4, PRKDC
5DNA ligationGO:000626610.6LIG4, XRCC6
6T cell receptor V(D)J recombinationGO:003315310.6LIG4, PRKDC
7double-strand break repair via classical nonhomologous end joiningGO:009768010.6LIG4, XRCC6
8cellular response to lithium ionGO:007128510.5LIG4, XRCC4
9establishment of macromolecular complex localization to telomereGO:009769510.5ATM, ATR
10establishment of RNA localization to telomereGO:009769410.5ATM, ATR
11positive regulation of telomerase catalytic core complex assemblyGO:190488410.5ATM, ATR
12isotype switchingGO:004519010.5LIG4, NBN
13cellular hyperosmotic salinity responseGO:007147510.4XRCC5, XRCC6
14negative regulation of telomere cappingGO:190435410.4ATM, NBN
15chromosome organizationGO:005127610.4DCLRE1C, LIG4
16replicative senescenceGO:009039910.4ATM, ATR
17B cell lineage commitmentGO:000232610.4PRKDC, RAG2
18T cell lineage commitmentGO:000236010.4PRKDC, RAG2
19DNA ligation involved in DNA repairGO:005110310.4LIG1, LIG4, XRCC4
20positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.3ATM, ATR
21DNA double-strand break processingGO:000072910.1ATM, NBN
22response to X-rayGO:001016510.1LIG4, XRCC2, XRCC4
23regulation of smooth muscle cell proliferationGO:004866010.0PRKDC, XRCC5, XRCC6
24establishment of integrated proviral latencyGO:007571310.0LIG4, XRCC4, XRCC5, XRCC6
25positive regulation of neurogenesisGO:005076910.0LIG4, XRCC2, XRCC5
26response to gamma radiationGO:00103329.9LIG4, PRKDC, XRCC2
27pre-B cell allelic exclusionGO:00023319.9ATM, RAG1, RAG2
28double-strand break repair via homologous recombinationGO:00007249.9ATM, NBN, XRCC2
29regulation of signal transduction by p53 class mediatorGO:19017969.8ATM, ATR, NBN
30positive regulation of type I interferon productionGO:00324819.8PRKDC, XRCC5, XRCC6
31detection of biotic stimulusGO:00095959.7NLRP3, NOD2
32DNA duplex unwindingGO:00325089.7NBN, XRCC5, XRCC6
33cellular response to gamma radiationGO:00714809.7ATM, ATR, XRCC5, XRCC6
34cellular response to X-rayGO:00714819.7ATM, XRCC5, XRCC6
35somitogenesisGO:00017569.7ATM, PRKDC, XRCC2
36peptidyl-serine phosphorylationGO:00181059.6ATM, ATR, PRKDC
37positive regulation of interleukin-1 beta secretionGO:00507189.6NLRP3, NOD2
38strand displacementGO:00007329.6ATM, NBN, XRCC2
39DNA synthesis involved in DNA repairGO:00007319.6ATM, NBN, XRCC2
40positive regulation of type 2 immune responseGO:00028309.6NLRP3, NOD2
41B cell differentiationGO:00301839.5DCLRE1C, NHEJ1, RAG1, RAG2
42telomere maintenanceGO:00007239.5DCLRE1C, NBN, XRCC5, XRCC6
43DNA repairGO:00062819.3ATM, ATR, LIG1, LIG4, XRCC2
44T cell differentiation in thymusGO:00330779.2LIG4, PRKDC, RAG1, RAG2
45double-strand break repairGO:00063029.2DCLRE1C, LIG4, NBN, PRKDC, XRCC4, XRCC5
46brain developmentGO:00074209.2ATM, PRKDC, XRCC5, XRCC6
47DNA recombinationGO:00063109.1DCLRE1C, NHEJ1, RAG1, XRCC4, XRCC5, XRCC6
48V(D)J recombinationGO:00331518.7ATM, DCLRE1C, LIG1, LIG4, PRKDC, RAG1
49response to ionizing radiationGO:00102128.6ATM, DCLRE1C, LIG4, NHEJ1, PRKDC, XRCC2
50double-strand break repair via nonhomologous end joiningGO:00063038.3ATM, DCLRE1C, LIG4, NBN, NHEJ1, PRKDC

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA ligase (ATP) activityGO:000391010.8LIG1, LIG4
2DNA ligase activityGO:000390910.8LIG1, LIG4
3DNA-dependent protein kinase activityGO:000467710.6ATM, PRKDC
4double-stranded telomeric DNA bindingGO:000369110.6XRCC5, XRCC6
55-deoxyribose-5-phosphate lyase activityGO:005157510.6XRCC5, XRCC6
6macromolecular complex bindingGO:004487710.6XRCC5, XRCC6
7ATP-dependent DNA helicase activityGO:000400310.0NBN, XRCC5, XRCC6
8protein C-terminus bindingGO:00080229.9LIG4, XRCC4, XRCC5, XRCC6
9damaged DNA bindingGO:00036849.8DCLRE1C, NBN, XRCC5, XRCC6
10peptidoglycan bindingGO:00428349.8NLRP3, NOD2
11double-stranded DNA bindingGO:00036909.5PRKDC, XRCC2, XRCC5, XRCC6
12DNA bindingGO:00036777.4ATM, ATR, LIG1, LIG4, NHEJ1, RAG1
13ATP bindingGO:00055246.7ATM, ATR, LIG1, LIG4, NLRP3, NOD2
14protein bindingGO:00055154.0ATM, ATR, COX5A, DCLRE1C, LIG4, NBN

Sources for Dna Ligase Iv Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet