MCID: DNL001
MIFTS: 30

Dna Ligase Iv Deficiency malady

Immune diseases category

Aliases & Classifications for Dna Ligase Iv Deficiency

About this section

Aliases & Descriptions for Dna Ligase Iv Deficiency:

Name: Dna Ligase Iv Deficiency 10 12
 
Lig4 Syndrome 10 65


Classifications:



External Ids:

Disease Ontology10 DOID:0060021

Summaries for Dna Ligase Iv Deficiency

About this section
Disease Ontology:10 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 are DNA Damage Induced 14-3-3Sigma Signaling and DNA damage_Role of Brca1 and Brca2 in DNA repair. Affiliated tissues include b cells, t cells and bone, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Related Diseases for Dna Ligase Iv Deficiency

About this section

Graphical network of the top 20 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:

33
B cells, T cells, Bone, Bone marrow

Animal Models for Dna Ligase Iv Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Dna Ligase Iv Deficiency:

38 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ATR, LIG1, LIG4, PRKDC, RAG1, RAG2
2MP:00053818.7ATR, LIG4, PRKDC, RAG1, RAG2, XRCC5
3MP:00053828.5ATR, LIG4, NBN, PRKDC, RAG2, XRCC2
4MP:00053888.2ATR, PRKDC, RAG1, RAG2, XRCC2, XRCC5
5MP:00053798.0ATM, ATR, NBN, PRKDC, RAG1, RAG2
6MP:00107718.0ATR, LIG1, PRKDC, RAG1, RAG2, XRCC2
7MP:00053867.5ATM, ATR, LIG4, NBN, PRKDC, RAG1
8MP:00053897.3ATM, ATR, LIG4, NBN, PRKDC, RAG2
9MP:00053767.0ATR, LIG1, LIG4, NHEJ1, PRKDC, RAG1
10MP:00107686.7ATM, ATR, LIG1, LIG4, NBN, PRKDC
11MP:00036316.6ATM, ATR, LIG4, NBN, PRKDC, RAG1
12MP:00053786.4ATM, ATR, LIG1, LIG4, NBN, PRKDC
13MP:00053876.4ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
14MP:00053976.3ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
15MP:00020066.1ATM, ATR, LIG1, LIG4, NBN, NHEJ1
16MP:00053846.0ATM, ATR, DCLRE1C, LIG1, LIG4, NBN

Publications for Dna Ligase Iv Deficiency

About this section

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

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 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ATM, ATR
29.5ATM, ATR, NBN
39.5ATM, ATR, NBN
4
Show member pathways
9.5ATM, ATR, NBN
5
Show member pathways
9.5ATM, ATR, NBN
69.5PRKDC, XRCC5, XRCC6
7
Show member pathways
9.4NBN, XRCC5, XRCC6
89.3ATM, ATR, PRKDC, XRCC4
99.2DCLRE1C, RAG1, RAG2
10
Show member pathways
9.2ATM, NBN, XRCC2
119.2ATM, NBN, XRCC2
12
Show member pathways
9.1ATM, RAG1, RAG2
139.1ATM, NBN, XRCC5, XRCC6
14
Show member pathways
9.0LIG1, LIG4, XRCC4, XRCC5, XRCC6
15
Show member pathways
8.9ATM, ATR, NBN, XRCC2
168.5ATM, ATR, NBN, PRKDC, XRCC5, XRCC6
178.5DCLRE1C, LIG4, NBN, PRKDC, XRCC4, XRCC5
187.8ATM, ATR, DCLRE1C, LIG4, NBN, NHEJ1
19
Show member pathways
7.7ATM, ATR, LIG1, LIG4, NBN, PRKDC
20
Show member pathways
7.6ATM, ATR, DCLRE1C, LIG4, NBN, NHEJ1
21
Show member pathways
6.6ATM, 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:000078310.4XRCC5, 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:00704199.5LIG4, NHEJ1, PRKDC, XRCC4, XRCC5, XRCC6
7nuclear chromosome, telomeric regionGO:00007849.4DCLRE1C, NBN, PRKDC, XRCC5, XRCC6
8nucleusGO:00056346.5ATM, DCLRE1C, LIG1, LIG4, NBN, NHEJ1
9nucleoplasmGO:00056545.5ATM, ATR, DCLRE1C, LIG1, LIG4, NBN

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.7LIG4, PRKDC
2immunoglobulin V(D)J recombinationGO:003315210.6LIG4, PRKDC
3T cell receptor V(D)J recombinationGO:003315310.6LIG4, PRKDC
4lagging strand elongationGO:000627310.6LIG1, LIG4
5positive regulation of ligase activityGO:005135110.5NHEJ1, XRCC4
6cellular response to lithium ionGO:007128510.5LIG4, XRCC4
7nucleotide-excision repair, DNA gap fillingGO:000629710.5LIG1, LIG4
8positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.4ATM, ATR
9isotype switchingGO:004519010.4LIG4, NBN
10replicative senescenceGO:009039910.4ATM, ATR
11B cell lineage commitmentGO:000232610.3PRKDC, RAG2
12T cell lineage commitmentGO:000236010.3PRKDC, RAG2
13cellular response to X-rayGO:007148110.3XRCC5, XRCC6
14DNA ligation involved in DNA repairGO:005110310.2LIG1, LIG4, XRCC4
15DNA ligationGO:000626610.2LIG1, LIG4, XRCC6
16regulation of smooth muscle cell proliferationGO:004866010.0PRKDC, XRCC5, XRCC6
17peptidyl-serine phosphorylationGO:00181059.9ATM, ATR, PRKDC
18DNA damage checkpointGO:00000779.9ATM, ATR, NBN
19response to X-rayGO:00101659.9LIG4, XRCC2, XRCC4
20response to gamma radiationGO:00103329.8LIG4, PRKDC, XRCC2
21establishment of integrated proviral latencyGO:00757139.8LIG4, XRCC4, XRCC5, XRCC6
22somitogenesisGO:00017569.8ATM, PRKDC, XRCC2
23pre-B cell allelic exclusionGO:00023319.8ATM, RAG1, RAG2
24positive regulation of type I interferon productionGO:00324819.7PRKDC, XRCC5, XRCC6
25positive regulation of neurogenesisGO:00507699.7LIG4, XRCC2, XRCC5
26DNA duplex unwindingGO:00325089.6NBN, XRCC5, XRCC6
27cellular response to gamma radiationGO:00714809.4ATM, ATR, XRCC5, XRCC6
28T cell differentiation in thymusGO:00330779.4LIG4, PRKDC, RAG1, RAG2
29B cell differentiationGO:00301839.4DCLRE1C, NHEJ1, RAG1, RAG2
30double-strand break repair via synthesis-dependent strand annealingGO:00450039.2ATM, NBN, XRCC2
31cellular response to DNA damage stimulusGO:00069748.6ATM, ATR, NBN, XRCC2
32V(D)J recombinationGO:00331518.6ATM, DCLRE1C, LIG1, LIG4, PRKDC, RAG1
33response to ionizing radiationGO:00102128.5ATM, DCLRE1C, LIG4, NHEJ1, PRKDC, XRCC2
34double-strand break repair via homologous recombinationGO:00007248.5ATM, ATR, LIG1, NBN, PRKDC, XRCC2
35telomere maintenanceGO:00007238.4ATM, DCLRE1C, LIG1, NBN, PRKDC, XRCC5
36DNA recombinationGO:00063108.0DCLRE1C, LIG1, LIG4, NHEJ1, RAG1, RAG2
37double-strand break repair via nonhomologous end joiningGO:00063037.8ATM, DCLRE1C, LIG1, LIG4, NBN, NHEJ1
38double-strand break repairGO:00063026.8ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
39DNA repairGO:00062816.5ATM, ATR, DCLRE1C, LIG1, LIG4, NBN

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1DNA ligase activityGO:000390910.6LIG1, LIG4
2DNA ligase (ATP) activityGO:000391010.6LIG1, LIG4
3DNA-dependent protein kinase activityGO:000467710.4ATM, PRKDC
4double-stranded telomeric DNA bindingGO:000369110.4XRCC5, XRCC6
5telomeric DNA bindingGO:004216210.4XRCC5, XRCC6
65-deoxyribose-5-phosphate lyase activityGO:005157510.4XRCC5, XRCC6
7phosphotransferase activity, alcohol group as acceptorGO:001677310.2ATM, ATR, PRKDC
8ATP-dependent DNA helicase activityGO:00040039.9NBN, XRCC5, XRCC6
9damaged DNA bindingGO:00036849.5DCLRE1C, NBN, XRCC5, XRCC6
10protein C-terminus bindingGO:00080229.3LIG4, XRCC4, XRCC5, XRCC6
11double-stranded DNA bindingGO:00036909.3PRKDC, XRCC2, XRCC5, XRCC6
12ATP bindingGO:00055247.4ATM, ATR, LIG1, LIG4, PRKDC, XRCC2
13DNA bindingGO:00036776.4ATM, ATR, LIG1, LIG4, NHEJ1, PRKDC

Sources for Dna Ligase Iv Deficiency

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet