MCID: DNL001
MIFTS: 39

Dna Ligase Iv Deficiency malady

Blood, Cancer categories

Summaries for Dna Ligase Iv Deficiency

Sources:
8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 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: Dna Ligase Iv Deficiency, also known as lig4 syndrome, is related to nijmegen breakage syndrome and primary immunodeficiency disease, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Dna Ligase Iv Deficiency is LIG4 (ligase IV, DNA, ATP-dependent), and among its related pathways are Global Genomic NER (GG-NER) and Fanconi Anemia pathway. The compounds l189 and aphidicolin have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related mouse phenotypes are tumorigenesis and craniofacial.

Description from OMIM:47 606593

Aliases & Classifications for Dna Ligase Iv Deficiency

Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
lig4 syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

dna ligase iv deficiency 8 10 49
lig4 syndrome 8 9 20 22 47 45 49 61
ligase 4 syndrome 49


External Ids:

Disease Ontology8 DOID:0060021
OMIM47 606593
ICD10 via Orphanet26 D81.1

Related Diseases for Dna Ligase Iv Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Dna Ligase Iv Deficiency:



Diseases related to dna ligase iv deficiency

Clinical Features for Dna Ligase Iv Deficiency

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

606593

Symptoms:

49 (show all 34)
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hypothyroidy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • insulin-independent/type 2 diabetes
  • anomalies of skin, subcutaneous tissue and mucosae
  • malabsorption/chronic diarrhea/steatorrhea
  • anomalies of bones/skeletal anomalies
  • microcephaly
  • brachycephaly/flat occiput
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • micrognathia/retrognathia/micrognathism/retrognathism
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • telangiectasiae of the skin
  • skin photosensitivity
  • epicanthic folds
  • broad nasal root
  • narrow forehead
  • long/large/bulbous nose
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • telecanthus/canthal dystopy
  • clinodactyly of fifth finger
  • micropenis/small penis/agenesis
  • chromosome breakage
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • acute leukemia
  • thin/retracted lips
  • low hair line-front
  • lymphoma
  • lymphadenopathy/polyadenopathies
  • hyperleukocytosis/leukocytosis
  • bone marrow failure/pancytopenia
  • severe combined immune deficiency syndrome/scid

Drugs & Therapeutics for Dna Ligase Iv Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Dna Ligase Iv Deficiency

Drug clinical trials:

Search ClinicalTrials for Dna Ligase Iv Deficiency

Search NIH Clinical Center for Dna Ligase Iv Deficiency

Search CenterWatch for Dna Ligase Iv Deficiency

Genetic Tests for Dna Ligase Iv Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Dna Ligase Iv Deficiency:

id Genetic test Affiliating Genes
1 Lig4 Syndrome20 22 LIG4

Anatomical Context for Dna Ligase Iv Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Dna Ligase Iv Deficiency:

33
T cells, B cells

Animal Models for Dna Ligase Iv Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Dna Ligase Iv Deficiency

Genetic Variations for Dna Ligase Iv Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Dna Ligase Iv Deficiency:

63
id Symbol AA change Variation SNP ID
1LIG4p.Arg278HisVAR_012774
2LIG4p.Gly469GluVAR_012775

Expression for genes affiliated with Dna Ligase Iv Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dna Ligase Iv Deficiency

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

Pathways for genes affiliated with Dna Ligase Iv Deficiency

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore
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Compounds for genes affiliated with Dna Ligase Iv Deficiency

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 2BitterDB, 24HMDB
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Compounds related to Dna Ligase Iv Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l189609.8LIG1, LIG4
2aphidicolin459.3LIG1, ATR
3bleomycin45 1110.2LIG1, DCLRE1C, XRCC5
4camptothecin45 60 1111.1ATR, XRCC2, XRCC5
5cisplatin45 50 60 1112.1LIG1, XRCC2, XRCC5
6caffeine45 50 29 2 11 2414.1XRCC2, ATR, LIG1
7polynucleotide459.0LIG1, LIG4, XRCC4
8etoposide45 50 60 1111.8XRCC5, ATR, DCLRE1C, LIG1
9wortmannin458.5XRCC4, ATR, LIG4

GO Terms for genes affiliated with Dna Ligase Iv Deficiency

Sources:
16Gene Ontology
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Cellular components related to Dna Ligase Iv Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:0056949.4LIG1, ATR
2DNA ligase IV complexGO:0328079.4XRCC4, LIG4
3DNA-dependent protein kinase-DNA ligase 4 complexGO:0059589.4LIG4, XRCC4
4condensed chromosomeGO:0007939.2LIG4, XRCC4
5nonhomologous end joining complexGO:0704198.4NHEJ1, LIG4, XRCC4, XRCC5
6nucleoplasmGO:0056547.8XRCC5, XRCC4, ATR, LIG4, LIG1
7nucleusGO:0056346.6XRCC5, XRCC4, XRCC2, DCLRE1C, LIG4, LIG1

Biological processes related to Dna Ligase Iv Deficiency according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1lagging strand elongationGO:0062739.9LIG4, LIG1
2V(D)J recombinationGO:0331519.9LIG1, LIG4
3nucleotide-excision repair, DNA gap fillingGO:0062979.8LIG1, LIG4
4pro-B cell differentiationGO:0023289.6LIG4, XRCC4
5immunoglobulin V(D)J recombinationGO:0331529.6LIG4, XRCC4
6double-strand break repair via homologous recombinationGO:0007249.5LIG1, XRCC2
7cellular response to lithium ionGO:0712859.5LIG4, XRCC4
8isotype switchingGO:0451909.5XRCC4, LIG4
9response to ionizing radiationGO:0102129.5NHEJ1, DCLRE1C
10telomere maintenanceGO:0007239.4LIG1, DCLRE1C, XRCC5
11T cell differentiation in thymusGO:0330779.4LIG4, XRCC4
12positive regulation of fibroblast proliferationGO:0481469.4XRCC4, LIG4
13positive regulation of ligase activityGO:0513519.4XRCC4, NHEJ1
14DNA recombinationGO:0063109.3NHEJ1, DCLRE1C, XRCC5
15response to X-rayGO:0101659.2XRCC4, XRCC2, LIG4
16response to gamma radiationGO:0103329.2LIG4, XRCC2, XRCC4
17establishment of integrated proviral latencyGO:0757139.2LIG4, XRCC4, XRCC5
18B cell differentiationGO:0301839.2NHEJ1, DCLRE1C
19negative regulation of neuron apoptotic processGO:0435249.2XRCC4, XRCC2, LIG4
20DNA ligation involved in DNA repairGO:0511039.1XRCC4, LIG4, LIG1
21in utero embryonic developmentGO:0017019.0LIG4, XRCC2, XRCC4
22central nervous system developmentGO:0074178.9NHEJ1, LIG4, XRCC4
23positive regulation of neurogenesisGO:0507698.8LIG4, XRCC2, XRCC4, XRCC5
24viral processGO:0160328.8XRCC5, XRCC4, LIG4
25double-strand break repairGO:0063028.3XRCC5, XRCC4, DCLRE1C, LIG4, LIG1
26double-strand break repair via nonhomologous end joiningGO:0063038.1NHEJ1, LIG1, LIG4, XRCC4, XRCC5
27DNA repairGO:0062817.8XRCC5, XRCC4, XRCC2, ATR, LIG4, LIG1

Molecular functions related to Dna Ligase Iv Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA ligase (ATP) activityGO:0039109.7LIG4, LIG1
2DNA ligase activityGO:0039099.6LIG4, LIG1
3ligase activityGO:0168749.3LIG4, XRCC4
4protein C-terminus bindingGO:0080228.8LIG4, XRCC4, XRCC5
5ATP bindingGO:0055247.9XRCC5, XRCC2, ATR, LIG4, LIG1
6DNA bindingGO:0036776.9NHEJ1, LIG1, LIG4, ATR, XRCC2, XRCC4

Products for genes affiliated with Dna Ligase Iv Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dna Ligase Iv Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet