MCID: DNL001
MIFTS: 39

Dna Ligase Iv Deficiency malady

Genetic diseases, Blood diseases, Cancer diseases, Rare diseases, Immune diseases categories

Summaries for Dna Ligase Iv Deficiency

About this section
Sources:
9Disease Ontology, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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: Dna Ligase Iv Deficiency, also known as lig4 syndrome, is related to nijmegen breakage syndrome and seckel syndrome, and has symptoms including acute leukemia, upslanted palpebral fissures/mongoloid slanting palpebral fissures and chromosome breakage. 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 b cells, t cells and skin, and related mouse phenotype tumorigenesis.

Description from OMIM:48 606593

Aliases & Classifications for Dna Ligase Iv Deficiency

About this section
Sources:
9Disease Ontology, 10diseasecard, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
lig4 syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

dna ligase iv deficiency 9 11 50
lig4 syndrome 9 10 21 23 48 46 50 63
ligase 4 syndrome 50


External Ids:

Disease Ontology9 DOID:0060021
OMIM48 606593
ICD10 via Orphanet27 D81.1

Related Diseases for Dna Ligase Iv Deficiency

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1nijmegen breakage syndrome30.0LIG4, NHEJ1
2seckel syndrome10.1
3b-cell lymphomas10.1
4severe combined immunodeficiency10.0LIG4

Symptoms for Dna Ligase Iv Deficiency

About this section
Sources:
48OMIM, 50Orphanet
See all sources


Clinical features from OMIM:

606593

Symptoms:

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

Drugs & Therapeutics for Dna Ligase Iv Deficiency

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Dna Ligase Iv Deficiency:

id Genetic test Affiliating Genes
1 Lig4 Syndrome21 23 LIG4

Anatomical Context for Dna Ligase Iv Deficiency

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Dna Ligase Iv Deficiency:

34
B cells, T cells, Skin, Bone, Testes, Bone marrow, Liver

Animal Models for Dna Ligase Iv Deficiency or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Dna Ligase Iv Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1LIG4, NHEJ1

Publications for Dna Ligase Iv Deficiency

About this section
Sources:
53PubMed
See all sources

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
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Dna Ligase Iv Deficiency:

65
id Symbol AA change Variation ID SNP ID
1LIG4p.Arg278HisVAR_012774
2LIG4p.Gly469GluVAR_012775

Clinvar genetic disease variations for Dna Ligase Iv Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1LIG4NM_002312.3(LIG4): c.1738C> T (p.Arg580Ter)single nucleotide variantPathogenicrs104894418GRCh37Chr 13, 108861879: 108861879
2LIG4NM_002312.3(LIG4): c.2440C> T (p.Arg814Ter)single nucleotide variantPathogenicrs104894419GRCh37Chr 13, 108861177: 108861177
3LIG4NM_002312.3(LIG4): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs104894420GRCh37Chr 13, 108862211: 108862211
4LIG4NM_002312.3(LIG4): c.833G> A (p.Arg278His)single nucleotide variantPathogenicrs104894421GRCh37Chr 13, 108862784: 108862784
5LIG4NM_002312.3(LIG4): c.1298_1300delAAC (p.Gln433del)deletionPathogenicGRCh37Chr 13, 108862317: 108862319

Expression for genes affiliated with Dna Ligase Iv Deficiency

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters
See all sources

Pathways related to Dna Ligase Iv Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Non-homologous end joining39
DNA damage NHEJ mechanisms of DSBs repair61
9.1LIG4, NHEJ1

Compounds for genes affiliated with Dna Ligase Iv Deficiency

About this section

GO Terms for genes affiliated with Dna Ligase Iv Deficiency

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Dna Ligase Iv Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:0704199.1LIG4, NHEJ1

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

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:0074179.1LIG4, NHEJ1
2double-strand break repair via nonhomologous end joiningGO:0063038.8LIG4, NHEJ1

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

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036779.1LIG4, NHEJ1

Products for genes affiliated with Dna Ligase Iv Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dna Ligase Iv Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet