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MCID: LG4001
MIFTS: 52

Lig4 Syndrome

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Lig4 Syndrome

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MalaCards integrated aliases for Lig4 Syndrome:

Name: Lig4 Syndrome 57 12 59 75 37 29 13 55 6 73
Dna Ligase Iv Deficiency 12 59 15
Ligase 4 Syndrome 59
Syndrome, Lig4 40
Lig4s 75

Characteristics:

Orphanet epidemiological data:

59
lig4 syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
closely resembles nijmegen breakage syndrome


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


Sources

Summaries for Lig4 Syndrome

About this section
Disease Ontology : 12 A combined T cell and B cell immunodeficiency that has material basis in a mutation 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 : Lig4 Syndrome, also known as dna ligase iv deficiency, is related to nijmegen breakage syndrome and severe combined immunodeficiency with sensitivity to ionizing radiation. An important gene associated with Lig4 Syndrome is LIG4 (DNA Ligase 4), and among its related pathways/superpathways are Non-homologous end-joining and DNA Double-Strand Break Repair. Affiliated tissues include b cells, skin and t cells, and related phenotypes are hypothyroidism and intellectual disability

UniProtKB/Swiss-Prot : 75 LIG4 syndrome: Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.

Wikipedia : 76 LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in... more...

Description from OMIM: 606593
Sources

Related Diseases for Lig4 Syndrome

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Diseases related to Lig4 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 32.1 ATM LIG4 NBN
2 severe combined immunodeficiency with sensitivity to ionizing radiation 10.5 DCLRE1C LIG4 NHEJ1
3 swayback 10.3 ATM COX5A
4 recombinase activating gene 1 deficiency 10.2 RAG1 RAG2
5 artemis deficiency 10.0 DCLRE1C LIG4 PRKDC RAG1
6 alpha-thalassemia/mental retardation syndrome, x-linked 10.0 NBN PRKDC XRCC5 XRCC6
7 malignant histiocytosis 10.0 DCLRE1C RAG1 RAG2
8 combined cellular and humoral immune defects with granulomas 9.9 RAG1 RAG2
9 hereditary breast ovarian cancer syndrome 9.8 ATM NBN XRCC2
10 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 9.8 RAG1 RAG2
11 urofacial syndrome 1 9.8
12 b-cell lymphomas 9.8
13 seckel syndrome 9.8
14 lymphoma 9.8
15 ataxia-telangiectasia 9.8 ATM ATR DCLRE1C NBN PRKDC
16 omenn syndrome 9.8 DCLRE1C LIG4 RAG1 RAG2
17 microcephaly 9.7 ATR LIG4 NBN NHEJ1 XRCC4
18 fanconi anemia, complementation group a 9.6 ATM LIG4 NBN XRCC2
19 immune deficiency disease 9.6 ATM DCLRE1C RAG1 RAG2
20 postencephalitic parkinson disease 9.5 LRRK2 XRCC6
21 psoriatic juvenile idiopathic arthritis 9.5 NLRP3 NOD2
22 severe combined immunodeficiency 9.3 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2
23 combined immunodeficiency, x-linked 9.0 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2

Graphical network of the top 20 diseases related to Lig4 Syndrome:



Diseases related to Lig4 Syndrome
Sources

Symptoms & Phenotypes for Lig4 Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism

Hematology:
pancytopenia
myelodysplasia
thrombocytopenia

Head And Neck Eyes:
hypotelorism

Head And Neck Nose:
prominent nose

Head And Neck Face:
narrow forehead

Neurologic Central Nervous System:
delayed speech
developmental delay, global

Neoplasia:
t-cell acute lymphoblastic leukemia (in 1 patient)

Head And Neck Head:
microcephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis

Genitourinary Internal Genitalia Female:
amenorrhea

Skin Nails Hair Skin:
psoriasis
photosensitivity
telangiectasia (1 patient)

Growth Other:
failure to thrive growth retardation

Laboratory Abnormalities:
radiosensitivity, severe


Clinical features from OMIM:

606593

Human phenotypes related to Lig4 Syndrome:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
5 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
10 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
11 pancytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001876
12 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
13 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
14 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
15 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
16 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
17 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
18 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
19 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
20 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
21 leukocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001974
22 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
23 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
24 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
25 acute leukemia 59 32 frequent (33%) Frequent (79-30%) HP:0002488
26 lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0002665
27 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
28 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
29 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
30 bird-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000320
31 large beaked nose 59 32 frequent (33%) Frequent (79-30%) HP:0003683
32 severe combined immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0004430
33 immunodeficiency 59 Very frequent (99-80%)
34 abnormality of the skeletal system 59 Occasional (29-5%)
35 abnormality of bone marrow cell morphology 59 Frequent (79-30%)

GenomeRNAi Phenotypes related to Lig4 Syndrome according to GeneCards Suite gene sharing:

26 (show all 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.64 PRKDC ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.64 DCLRE1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.64 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.64 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.64 ATR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.64 DCLRE1C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.64 DCLRE1C ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.64 LIG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.64 LIG1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.64 DCLRE1C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.64 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.64 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.64 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.64 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.64 ATR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.64 LIG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.64 LIG1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.64 LRRK2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.64 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.64 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.64 ATM LRRK2 PRKDC
22 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.64 ATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.64 LRRK2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.64 ATM PRKDC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.64 LRRK2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.64 LIG1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.64 PRKDC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.64 LIG1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.64 LIG1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.64 ATR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.64 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.64 ATM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.64 LIG1 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.64 LIG1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.64 ATM DCLRE1C LIG1 LRRK2 PRKDC ATR
36 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.64 LRRK2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.64 DCLRE1C
38 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.93 XRCC5 XRCC6 ATM ATR DCLRE1C LIG1
39 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.88 NLRP3 ATM NOD2 ATR PRKDC LIG1
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 NBN NLRP3 ATM NOD2 ATR PRKDC
41 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.71 ATM ATR LRRK2 PRKDC
42 Decreased viability after gemcitabine stimulation GR00107-A-2 9.54 ATM ATR PRKDC
43 Reduced mammosphere formation GR00396-S 9.5 ATM ATR DCLRE1C PRKDC XRCC2 XRCC5
44 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.32 ATM ATR

MGI Mouse Phenotypes related to Lig4 Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.5 ATM ATR DCLRE1C LIG1 LIG4 LRIG2
2 growth/size/body region MP:0005378 10.41 ATM ATR LIG1 LIG4 LRIG2 NBN
3 hematopoietic system MP:0005397 10.4 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
4 immune system MP:0005387 10.39 NBN NHEJ1 NLRP3 NOD2 PRKDC RAG1
5 endocrine/exocrine gland MP:0005379 10.37 DCLRE1C LIG1 LIG4 LRRK2 NBN NHEJ1
6 homeostasis/metabolism MP:0005376 10.35 ATM ATR LIG1 LIG4 LRRK2 NBN
7 behavior/neurological MP:0005386 10.3 XRCC6 ATM ATR LIG4 LRIG2 LRRK2
8 mortality/aging MP:0010768 10.27 ATM ATR XRCC4 XRCC5 LIG1 LIG4
9 integument MP:0010771 10.17 ATM ATR LIG1 LRIG2 LRRK2 NLRP3
10 neoplasm MP:0002006 10.17 XRCC2 XRCC4 XRCC5 XRCC6 ATM ATR
11 digestive/alimentary MP:0005381 10.14 RAG2 XRCC5 ATR LIG4 NLRP3 NOD2
12 nervous system MP:0003631 10.13 ATM ATR LIG4 LRIG2 LRRK2 NBN
13 liver/biliary system MP:0005370 9.95 ATR LIG1 LIG4 NLRP3 PRKDC RAG1
14 reproductive system MP:0005389 9.85 ATM ATR LIG4 NBN NLRP3 PRKDC
15 respiratory system MP:0005388 9.5 ATR LRRK2 PRKDC RAG1 RAG2 XRCC2
16 skeleton MP:0005390 9.23 ATR LRRK2 NLRP3 NOD2 PRKDC RAG1
Sources

Drugs & Therapeutics for Lig4 Syndrome

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Search Clinical Trials , NIH Clinical Center for Lig4 Syndrome

Sources

Genetic Tests for Lig4 Syndrome

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Genetic tests related to Lig4 Syndrome:

# Genetic test Affiliating Genes
1 Lig4 Syndrome 29 LIG4
Sources

Anatomical Context for Lig4 Syndrome

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MalaCards organs/tissues related to Lig4 Syndrome:

41
B Cells, Skin, T Cells, Bone, Bone Marrow, Myeloid
Sources

Publications for Lig4 Syndrome

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Articles related to Lig4 Syndrome:

# Title Authors Year
1
LIG4 Syndrome Associated with Hypocellular Myeloid Dysplasia. ( 29491294 )
2018
2
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. ( 27855655 )
2016
3
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. ( 20133615 )
2010
4
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. ( 17345618 )
2007
5
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. ( 15333585 )
2004
6
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. ( 15279811 )
2004
Sources

Variations for Lig4 Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Lig4 Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 LIG4 p.Arg278His VAR_012774 rs104894421
2 LIG4 p.Gly469Glu VAR_012775 rs104894420

ClinVar genetic disease variations for Lig4 Syndrome:

6
(show top 50) (show all 156)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIG4 NM_002312.3(LIG4): c.1738C> T (p.Arg580Ter) single nucleotide variant Pathogenic rs104894418 GRCh37 Chromosome 13, 108861879: 108861879
2 LIG4 NM_002312.3(LIG4): c.1738C> T (p.Arg580Ter) single nucleotide variant Pathogenic rs104894418 GRCh38 Chromosome 13, 108209531: 108209531
3 LIG4 NM_002312.3(LIG4): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894419 GRCh37 Chromosome 13, 108861177: 108861177
4 LIG4 NM_002312.3(LIG4): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894419 GRCh38 Chromosome 13, 108208829: 108208829
5 LIG4 NM_002312.3(LIG4): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs104894420 GRCh37 Chromosome 13, 108862211: 108862211
6 LIG4 NM_002312.3(LIG4): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs104894420 GRCh38 Chromosome 13, 108209863: 108209863
7 LIG4 NM_002312.3(LIG4): c.833G> A (p.Arg278His) single nucleotide variant Pathogenic rs104894421 GRCh37 Chromosome 13, 108862784: 108862784
8 LIG4 NM_002312.3(LIG4): c.833G> A (p.Arg278His) single nucleotide variant Pathogenic rs104894421 GRCh38 Chromosome 13, 108210436: 108210436
9 LIG4 NM_002312.3(LIG4): c.8C> T (p.Ala3Val) single nucleotide variant protective rs1805389 GRCh37 Chromosome 13, 108863609: 108863609
10 LIG4 NM_002312.3(LIG4): c.8C> T (p.Ala3Val) single nucleotide variant protective rs1805389 GRCh38 Chromosome 13, 108211261: 108211261
11 LIG4 NM_002312.3(LIG4): c.1298_1300delAAC (p.Gln433del) deletion Pathogenic rs587776663 GRCh37 Chromosome 13, 108862317: 108862319
12 LIG4 NM_002312.3(LIG4): c.1298_1300delAAC (p.Gln433del) deletion Pathogenic rs587776663 GRCh38 Chromosome 13, 108209969: 108209971
13 LIG4 NM_002312.3(LIG4): c.1798G> A (p.Glu600Lys) single nucleotide variant Benign rs61731910 GRCh38 Chromosome 13, 108209471: 108209471
14 LIG4 NM_002312.3(LIG4): c.1798G> A (p.Glu600Lys) single nucleotide variant Benign rs61731910 GRCh37 Chromosome 13, 108861819: 108861819
15 LIG4 NM_002312.3(LIG4): c.513T> C (p.Leu171=) single nucleotide variant Conflicting interpretations of pathogenicity rs3093764 GRCh37 Chromosome 13, 108863104: 108863104
16 LIG4 NM_002312.3(LIG4): c.513T> C (p.Leu171=) single nucleotide variant Conflicting interpretations of pathogenicity rs3093764 GRCh38 Chromosome 13, 108210756: 108210756
17 LIG4 NM_002312.3(LIG4): c.1312T> C (p.Tyr438His) single nucleotide variant Likely pathogenic rs886037777 GRCh37 Chromosome 13, 108862305: 108862305
18 LIG4 NM_002312.3(LIG4): c.1312T> C (p.Tyr438His) single nucleotide variant Likely pathogenic rs886037777 GRCh38 Chromosome 13, 108209957: 108209957
19 LIG4 NM_002312.3(LIG4): c.1751_1755delTAAGA (p.Ile584Argfs) deletion Pathogenic rs770128720 GRCh37 Chromosome 13, 108861862: 108861866
20 LIG4 NM_002312.3(LIG4): c.1751_1755delTAAGA (p.Ile584Argfs) deletion Pathogenic rs770128720 GRCh38 Chromosome 13, 108209514: 108209518
21 LIG4 NM_002312.3(LIG4): c.*1035G> A single nucleotide variant Likely benign rs10131 GRCh38 Chromosome 13, 108207498: 108207498
22 LIG4 NM_002312.3(LIG4): c.*1035G> A single nucleotide variant Likely benign rs10131 GRCh37 Chromosome 13, 108859846: 108859846
23 LIG4 NM_002312.3(LIG4): c.*855_*856insTTTT insertion Likely benign rs146506306 GRCh38 Chromosome 13, 108207677: 108207678
24 LIG4 NM_002312.3(LIG4): c.*855_*856insTTTT insertion Likely benign rs146506306 GRCh37 Chromosome 13, 108860025: 108860026
25 LIG4 NM_002312.3(LIG4): c.*599_*602delCTTA deletion Likely benign rs3093770 GRCh38 Chromosome 13, 108207931: 108207934
26 LIG4 NM_002312.3(LIG4): c.*599_*602delCTTA deletion Likely benign rs3093770 GRCh37 Chromosome 13, 108860279: 108860282
27 LIG4 NM_002312.3(LIG4): c.*562_*563insAAT insertion Likely benign rs112171260 GRCh38 Chromosome 13, 108207970: 108207971
28 LIG4 NM_002312.3(LIG4): c.*562_*563insAAT insertion Likely benign rs112171260 GRCh37 Chromosome 13, 108860318: 108860319
29 LIG4 NM_002312.3(LIG4): c.*486A> G single nucleotide variant Uncertain significance rs543340651 GRCh37 Chromosome 13, 108860395: 108860395
30 LIG4 NM_002312.3(LIG4): c.*486A> G single nucleotide variant Uncertain significance rs543340651 GRCh38 Chromosome 13, 108208047: 108208047
31 LIG4 NM_002312.3(LIG4): c.*352A> C single nucleotide variant Uncertain significance rs886049944 GRCh38 Chromosome 13, 108208181: 108208181
32 LIG4 NM_002312.3(LIG4): c.*352A> C single nucleotide variant Uncertain significance rs886049944 GRCh37 Chromosome 13, 108860529: 108860529
33 LIG4 NM_002312.3(LIG4): c.*306A> G single nucleotide variant Uncertain significance rs886049945 GRCh38 Chromosome 13, 108208227: 108208227
34 LIG4 NM_002312.3(LIG4): c.*306A> G single nucleotide variant Uncertain significance rs886049945 GRCh37 Chromosome 13, 108860575: 108860575
35 LIG4 NM_002312.3(LIG4): c.*242A> G single nucleotide variant Uncertain significance rs886049946 GRCh38 Chromosome 13, 108208291: 108208291
36 LIG4 NM_002312.3(LIG4): c.*242A> G single nucleotide variant Uncertain significance rs886049946 GRCh37 Chromosome 13, 108860639: 108860639
37 LIG4 NM_002312.3(LIG4): c.*166G> C single nucleotide variant Uncertain significance rs538355612 GRCh38 Chromosome 13, 108208367: 108208367
38 LIG4 NM_002312.3(LIG4): c.*166G> C single nucleotide variant Uncertain significance rs538355612 GRCh37 Chromosome 13, 108860715: 108860715
39 LIG4 NM_002312.3(LIG4): c.*56G> C single nucleotide variant Uncertain significance rs886049947 GRCh38 Chromosome 13, 108208477: 108208477
40 LIG4 NM_002312.3(LIG4): c.*56G> C single nucleotide variant Uncertain significance rs886049947 GRCh37 Chromosome 13, 108860825: 108860825
41 LIG4 NM_002312.3(LIG4): c.2518A> G (p.Ile840Val) single nucleotide variant Uncertain significance rs200369995 GRCh38 Chromosome 13, 108208751: 108208751
42 LIG4 NM_002312.3(LIG4): c.2518A> G (p.Ile840Val) single nucleotide variant Uncertain significance rs200369995 GRCh37 Chromosome 13, 108861099: 108861099
43 LIG4 NM_002312.3(LIG4): c.2274T> C (p.Tyr758=) single nucleotide variant Uncertain significance rs529756815 GRCh37 Chromosome 13, 108861343: 108861343
44 LIG4 NM_002312.3(LIG4): c.2274T> C (p.Tyr758=) single nucleotide variant Uncertain significance rs529756815 GRCh38 Chromosome 13, 108208995: 108208995
45 LIG4 NM_002312.3(LIG4): c.1198A> C (p.Ile400Leu) single nucleotide variant Uncertain significance rs886049949 GRCh38 Chromosome 13, 108210071: 108210071
46 LIG4 NM_002312.3(LIG4): c.1198A> C (p.Ile400Leu) single nucleotide variant Uncertain significance rs886049949 GRCh37 Chromosome 13, 108862419: 108862419
47 LIG4 NM_002312.3(LIG4): c.807C> T (p.Tyr269=) single nucleotide variant Benign/Likely benign rs2232638 GRCh38 Chromosome 13, 108210462: 108210462
48 LIG4 NM_002312.3(LIG4): c.807C> T (p.Tyr269=) single nucleotide variant Benign/Likely benign rs2232638 GRCh37 Chromosome 13, 108862810: 108862810
49 LIG4 NM_002312.3(LIG4): c.-32C> T single nucleotide variant Uncertain significance rs536441091 GRCh38 Chromosome 13, 108214541: 108214541
50 LIG4 NM_002312.3(LIG4): c.-32C> T single nucleotide variant Uncertain significance rs536441091 GRCh37 Chromosome 13, 108866889: 108866889
Sources

Expression for Lig4 Syndrome

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Search GEO for disease gene expression data for Lig4 Syndrome.
Sources

Pathways for Lig4 Syndrome

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Pathways related to Lig4 Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Non-homologous end-joining hsa03450

Pathways related to Lig4 Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 66
Show member pathways
 13.1 ATM ATR DCLRE1C LIG1 LIG4 NBN
2
Chks in Checkpoint Regulation 64
Show member pathways
 12.63 ATM ATR LIG1 LIG4 NBN PRKDC
3
DNA Damage 4
12.38 ATM ATR DCLRE1C LIG4 NBN NHEJ1
4
Cytosolic sensors of pathogen-associated DNA 66
Show member pathways
 12.27 NOD2 PRKDC XRCC5 XRCC6
5
DNA Damage Response 1
Show member pathways
 12.21 ATM ATR NBN PRKDC
6
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.12 ATM ATR NBN XRCC2
7
DNA Double Strand Break Response 66
Show member pathways
 11.97 ATM DCLRE1C LIG4 NBN NHEJ1 PRKDC
8
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.79 NBN XRCC5 XRCC6
9
BRCA1 Pathway 64
Show member pathways
 11.64 ATM ATR NBN
10
Regulation of Telomerase 1
11.58 ATM NBN XRCC5 XRCC6
11
ATM Signaling Network in Development and Disease 1
11.46 ATM ATR DCLRE1C NBN PRKDC
12
Coregulation of Androgen receptor activity 1
11.44 PRKDC XRCC5 XRCC6
13
DNA damage_ATM/ATR regulation of G1/S checkpoint 22
11.31 ATM ATR NBN
14
Primary immunodeficiency 37
11.22 DCLRE1C RAG1 RAG2
15
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 61
11.1 ATM ATR PRKDC XRCC4
16
BARD1 signaling events 1
11.1 ATM ATR NBN PRKDC XRCC5 XRCC6
17
DNA Damage Induced 14-3-3Sigma Signaling 64
10.85 ATM ATR
18
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 10.77 ATM NBN
19
DNA damage_NHEJ mechanisms of DSBs repair 22
10.55 DCLRE1C LIG4 NBN PRKDC XRCC4 XRCC5
Sources

GO Terms for Lig4 Syndrome

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Cellular components related to Lig4 Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 9.61 PRKDC XRCC5 XRCC6
2 nuclear chromosome, telomeric region GO:0000784 9.56 ATM ATR DCLRE1C LIG4 NBN PRKDC
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.5 LIG4 PRKDC XRCC4
4 nuclear telomere cap complex GO:0000783 9.46 XRCC5 XRCC6
5 DNA ligase IV complex GO:0032807 9.43 LIG4 NHEJ1 XRCC4
6 Ku70:Ku80 complex GO:0043564 9.4 XRCC5 XRCC6
7 nonhomologous end joining complex GO:0070419 9.17 DCLRE1C LIG4 NHEJ1 PRKDC XRCC4 XRCC5
8 nucleus GO:0005634 10.27 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
9 nucleoplasm GO:0005654 10 ATM ATR DCLRE1C LIG1 LIG4 NBN

Biological processes related to Lig4 Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.98 ATM ATR LRRK2 PRKDC
2 DNA replication GO:0006260 9.97 ATM ATR LIG1 LIG4 NBN
3 response to ionizing radiation GO:0010212 9.91 ATM DCLRE1C LIG4 NHEJ1 PRKDC XRCC2
4 double-strand break repair GO:0006302 9.91 DCLRE1C LIG4 NBN NHEJ1 PRKDC XRCC4
5 DNA recombination GO:0006310 9.9 DCLRE1C LIG1 LIG4 NHEJ1 PRKDC RAG1
6 double-strand break repair via homologous recombination GO:0000724 9.88 ATM NBN XRCC2
7 B cell differentiation GO:0030183 9.88 DCLRE1C NHEJ1 RAG1 RAG2
8 telomere maintenance GO:0000723 9.88 ATM DCLRE1C NBN PRKDC XRCC5 XRCC6
9 DNA duplex unwinding GO:0032508 9.87 NBN XRCC5 XRCC6
10 positive regulation of type I interferon production GO:0032481 9.87 PRKDC XRCC5 XRCC6
11 somitogenesis GO:0001756 9.86 ATM PRKDC XRCC2
12 thymus development GO:0048538 9.85 ATM PRKDC RAG1
13 DNA synthesis involved in DNA repair GO:0000731 9.83 ATM NBN XRCC2
14 positive regulation of telomere maintenance via telomerase GO:0032212 9.81 ATM ATR XRCC5
15 response to gamma radiation GO:0010332 9.81 LIG4 PRKDC XRCC2
16 T cell differentiation in thymus GO:0033077 9.81 LIG4 PRKDC RAG1 RAG2
17 cellular response to gamma radiation GO:0071480 9.8 ATM ATR XRCC5 XRCC6
18 strand displacement GO:0000732 9.79 ATM NBN XRCC2
19 positive regulation of neurogenesis GO:0050769 9.78 LIG4 XRCC2 XRCC5
20 response to X-ray GO:0010165 9.77 LIG4 XRCC2 XRCC4
21 activation of innate immune response GO:0002218 9.77 PRKDC XRCC5 XRCC6
22 establishment of integrated proviral latency GO:0075713 9.76 LIG4 XRCC4 XRCC5 XRCC6
23 DNA double-strand break processing GO:0000729 9.73 ATM NBN
24 DNA ligation GO:0006266 9.73 LIG1 LIG4 XRCC6
25 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.72 LRRK2 NOD2
26 isotype switching GO:0045190 9.72 LIG4 NBN
27 replicative senescence GO:0090399 9.72 ATM ATR
28 determination of adult lifespan GO:0008340 9.72 ATM LRRK2
29 cellular response to X-ray GO:0071481 9.72 ATM XRCC5 XRCC6
30 cellular response to lithium ion GO:0071285 9.71 LIG4 XRCC4
31 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.71 ATM ATR
32 protein localization to chromosome, telomeric region GO:0070198 9.71 ATR XRCC5
33 regulation of smooth muscle cell proliferation GO:0048660 9.71 PRKDC XRCC5 XRCC6
34 lagging strand elongation GO:0006273 9.7 LIG1 LIG4
35 positive regulation of type 2 immune response GO:0002830 9.7 NLRP3 NOD2
36 cellular response to peptidoglycan GO:0071224 9.7 NLRP3 NOD2
37 T cell lineage commitment GO:0002360 9.7 PRKDC RAG2
38 DNA ligation involved in DNA repair GO:0051103 9.7 LIG1 LIG4 XRCC4
39 T cell receptor V(D)J recombination GO:0033153 9.68 LIG4 PRKDC
40 negative regulation of telomere capping GO:1904354 9.68 ATM NBN
41 cellular hyperosmotic salinity response GO:0071475 9.67 XRCC5 XRCC6
42 B cell lineage commitment GO:0002326 9.67 PRKDC RAG2
43 positive regulation of ligase activity GO:0051351 9.67 NHEJ1 XRCC4
44 pro-B cell differentiation GO:0002328 9.66 LIG4 PRKDC
45 double-strand break repair via classical nonhomologous end joining GO:0097680 9.65 LIG4 XRCC6
46 detection of biotic stimulus GO:0009595 9.65 NLRP3 NOD2
47 cytokine secretion involved in immune response GO:0002374 9.65 NLRP3 NOD2
48 pre-B cell allelic exclusion GO:0002331 9.65 ATM RAG1 RAG2
49 immunoglobulin V(D)J recombination GO:0033152 9.64 LIG4 PRKDC
50 establishment of protein-containing complex localization to telomere GO:0097695 9.63 ATM ATR

Molecular functions related to Lig4 Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 binding GO:0005488 9.83 ATM ATR LRRK2 PRKDC
2 protein C-terminus binding GO:0008022 9.8 LIG4 XRCC4 XRCC5 XRCC6
3 DNA binding GO:0003677 9.73 ATM ATR LIG1 LIG4 NHEJ1 PRKDC
4 double-stranded DNA binding GO:0003690 9.62 PRKDC XRCC2 XRCC5 XRCC6
5 peptidoglycan binding GO:0042834 9.54 NLRP3 NOD2
6 ATP-dependent DNA helicase activity GO:0004003 9.54 NBN XRCC5 XRCC6
7 double-stranded telomeric DNA binding GO:0003691 9.51 XRCC5 XRCC6
8 DNA ligase (ATP) activity GO:0003910 9.48 LIG1 LIG4
9 5-deoxyribose-5-phosphate lyase activity GO:0051575 9.46 XRCC5 XRCC6
10 damaged DNA binding GO:0003684 9.46 DCLRE1C NBN XRCC5 XRCC6
11 DNA-dependent protein kinase activity GO:0004677 9.43 ATM PRKDC
12 DNA ligase activity GO:0003909 9.4 LIG1 LIG4
13 ATP binding GO:0005524 9.36 ATM ATR LIG1 LIG4 LRRK2 NLRP3
14 protein binding GO:0005515 10.21 ATM ATR COX5A DCLRE1C LIG4 LRIG2
Sources

Sources for Lig4 Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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