MCID: DNL001
MIFTS: 39

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 10 12
 
Lig4 Syndrome 10 65

Classifications:



External Ids:

Disease Ontology10 DOID:0060021
UMLS65 C1847827

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 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 BRCA1 Pathway. Affiliated tissues include t cells, b cells and thyroid, and related mouse phenotypes are respiratory system and liver/biliary system.

Related Diseases for Dna Ligase Iv Deficiency

About this section

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1lig4 syndrome11.3
2omenn syndrome10.5DCLRE1C, LIG4
3alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity10.2RAG1, RAG2
4severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related10.2RAG1, RAG2
5posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome10.2RAG1, RAG2
6lymphomatous meningitis10.2RAG1, RAG2
7alpha-thalassemia myelodysplasia syndrome, somatic10.2NBN, PRKDC, XRCC5
83-methylglutaconic aciduria, type i10.2ATM, ATR, PRKDC
9recombinase activating gene 2 deficiency10.1RAG1, RAG2
10peroxisome biogenesis disorder 5a10.0ATM, ATR, LIG4, NBN
11cd3zeta deficiency10.0DCLRE1C, LIG4, PRKDC, RAG1
12b-cell lymphomas9.9
13diffuse large b-cell lymphoma9.9
14lymphoma9.9
15denys-drash syndrome9.9RAG1, RAG2
16autoimmune thyroid disease 49.8DCLRE1C, LIG4, RAG1, RAG2
17severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related9.8DCLRE1C, PRKDC, RAG1, RAG2
18nutritional deficiency disease9.7ATM, COX5A
19mental retardation, autosomal recessive 459.7ATM, LIG4, NBN, XRCC2
20epicardium lipoma9.6DCLRE1C, LIG4, PRKDC, RAG1, RAG2
21psychosocial short stature9.4NLRP3, NOD2
22vallecula cancer9.4NLRP3, NOD2
23short-rib thoracic dysplasia 3 with or without polydactyly9.4ATM, ATR, DCLRE1C, NBN, PRKDC, XRCC5
24severe congenital neutropenia9.4DCLRE1C, LIG4, NHEJ1, PRKDC, RAG1, RAG2
25cd40 ligand deficiency5.0ATM, ATR, COX5A, DCLRE1C, LIG1, LIG4

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

Drugs for Dna Ligase Iv Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Sunscreening Agents79
2Dermatologic Agents4555
3Radiation-Protective Agents333
4Protective Agents5651
5Vitamins3857

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
T cells, B cells, Thyroid, Skin, Nk cells, Lung, Breast

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:00053888.7ATR, PRKDC, RAG1, RAG2, XRCC2, XRCC5
2MP:00053708.4ATR, LIG1, LIG4, NLRP3, PRKDC, RAG1
3MP:00053868.0ATM, ATR, LIG4, NBN, PRKDC, RAG1
4MP:00053897.6ATM, ATR, LIG4, NBN, NLRP3, PRKDC
5MP:00107717.5ATM, ATR, LIG1, NLRP3, PRKDC, RAG1
6MP:00053817.5ATR, LIG4, NLRP3, NOD2, PRKDC, RAG1
7MP:00053797.1ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
8MP:00020066.8ATM, ATR, LIG1, LIG4, NBN, NHEJ1
9MP:00036316.6ATM, ATR, LIG4, NBN, NLRP3, PRKDC
10MP:00107685.7ATM, ATR, LIG1, LIG4, NBN, NLRP3
11MP:00053765.5ATM, ATR, LIG1, LIG4, NBN, NHEJ1
12MP:00053785.4ATM, ATR, LIG1, LIG4, NBN, NLRP3
13MP:00053875.3ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
14MP:00053975.3ATM, ATR, DCLRE1C, LIG1, LIG4, NBN
15MP:00053845.0ATM, 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
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. (11040211)
2000
8
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 23)
idSuper pathwaysScoreTop Affiliating Genes
19.9ATM, ATR
2
Show member pathways
9.6ATM, ATR, NBN
3
Show member pathways
9.6ATM, ATR, NBN
49.6ATM, ATR, NBN
59.6ATM, ATR, NBN
69.6PRKDC, XRCC5, XRCC6
7
Show member pathways
9.5NBN, XRCC5, XRCC6
8
Show member pathways
9.5ATM, ATR, XRCC5
99.4ATM, ATR, PRKDC, XRCC4
109.4DCLRE1C, RAG1, RAG2
119.3ATM, NBN, XRCC2
129.3ATM, NOD2
13
Show member pathways
9.3ATM, NBN, XRCC2
14
Show member pathways
9.3ATM, RAG1, RAG2
159.2ATM, NBN, XRCC5, XRCC6
16
Show member pathways
9.1LIG1, LIG4, XRCC4, XRCC5, XRCC6
17
Show member pathways
9.1ATM, ATR, NBN, XRCC2
18
Show member pathways
8.7NOD2, PRKDC, XRCC5, XRCC6
198.7ATM, ATR, NBN, PRKDC, XRCC5, XRCC6
208.6DCLRE1C, LIG4, NBN, PRKDC, XRCC4, XRCC5
21
Show member pathways
8.0ATM, DCLRE1C, LIG4, NBN, NHEJ1, PRKDC
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
1nonhomologous end joining complexGO:00704198.6DCLRE1C, LIG4, NHEJ1, PRKDC, XRCC4, XRCC5

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1pro-B cell differentiationGO:000232810.7LIG4, PRKDC
2immunoglobulin V(D)J recombinationGO:003315210.7LIG4, PRKDC
3cellular response to lithium ionGO:007128510.6LIG4, XRCC4
4positive regulation of telomerase catalytic core complex assemblyGO:190488410.5ATM, ATR
5establishment of RNA localization to telomereGO:009769410.5ATM, ATR
6negative regulation of telomere cappingGO:190435410.5ATM, NBN
7positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.5ATM, ATR
8double-strand break repair via nonhomologous end joiningGO:000630310.5LIG4, NHEJ1
9positive regulation of telomere maintenance via telomeraseGO:003221210.4ATM, ATR
10T cell differentiationGO:003021710.4NHEJ1, RAG2
11nucleotide-excision repair, DNA gap fillingGO:000629710.4LIG1, LIG4
12T cell differentiation in thymusGO:003307710.3PRKDC, RAG2
13double-strand break repair via synthesis-dependent strand annealingGO:004500310.2ATM, NBN
14DNA damage checkpointGO:000007710.2ATR, NBN
15reciprocal meiotic recombinationGO:000713110.2ATM, XRCC2
16regulation of smooth muscle cell proliferationGO:004866010.0PRKDC, XRCC5, XRCC6
17in utero embryonic developmentGO:00017019.9LIG4, NBN, XRCC2
18response to gamma radiationGO:00103329.9LIG4, PRKDC, XRCC2
19somitogenesisGO:00017569.8ATM, PRKDC, XRCC2
20positive regulation of neurogenesisGO:00507699.8LIG4, XRCC2, XRCC5
21B cell differentiationGO:00301839.8DCLRE1C, NHEJ1, RAG1, RAG2
22double-strand break repairGO:00063029.8ATM, DCLRE1C, LIG1, PRKDC
23DNA synthesis involved in DNA repairGO:00007319.7ATM, NBN, XRCC2
24strand displacementGO:00007329.7ATM, NBN, XRCC2
25V(D)J recombinationGO:00331519.7ATM, DCLRE1C, LIG1, LIG4, PRKDC
26positive regulation of interleukin-1 beta secretionGO:00507189.6NLRP3, NOD2
27nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.5NLRP3, NOD2
28protein oligomerizationGO:00512599.4NLRP3, NOD2
29DNA repairGO:00062819.4ATM, LIG4, PRKDC
30response to ionizing radiationGO:00102129.3ATM, LIG4, NHEJ1, PRKDC, XRCC2
31DNA replicationGO:00062609.3ATR, LIG1, LIG4, NBN
32cellular response to DNA damage stimulusGO:00069749.1ATM, ATR, NBN, XRCC2
33DNA recombinationGO:00063108.9DCLRE1C, LIG4, NHEJ1, RAG2, XRCC4, XRCC5
34innate immune responseGO:00450878.1NLRP3, NOD2, PRKDC, XRCC5, XRCC6

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

idNameGO IDScoreTop Affiliating Genes
1double-stranded telomeric DNA bindingGO:000369110.0XRCC5, XRCC6
2ATP-dependent DNA helicase activityGO:00040039.9XRCC5, XRCC6
3DNA bindingGO:00036778.6ATM, ATR, LIG1, PRKDC, XRCC5, XRCC6

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