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LIG4S
MCID: LG4001
MIFTS: 53

Lig4 Syndrome (LIG4S)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Lig4 Syndrome

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MalaCards integrated aliases for Lig4 Syndrome:

Name: Lig4 Syndrome 58 12 60 76 38 30 13 56 6 74
Dna Ligase Iv Deficiency 12 60 15
Ligase 4 Syndrome 60
Syndrome, Lig4 41
Lig4s 76

Characteristics:

Orphanet epidemiological data:

60
lig4 syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;

OMIM:

58
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: 35
Orphanet: 60  
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 combined t cell and b cell immunodeficiency. 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 global developmental delay and microcephaly

UniProtKB/Swiss-Prot : 76 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 : 77 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 35)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 32.1 ATM LIG4 NBN
2 combined t cell and b cell immunodeficiency 29.5 DCLRE1C LIG4 PRKDC RAG1 RAG2
3 severe combined immunodeficiency 29.4 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2
4 dubowitz syndrome 11.1
5 lung cancer 10.3
6 glioma 10.1
7 recombinase activating gene 1 deficiency 10.1 RAG1 RAG2
8 hereditary breast ovarian cancer syndrome 10.0 ATM NBN XRCC2
9 urofacial syndrome 1 10.0
10 seckel syndrome 10.0
11 lymphoma 10.0
12 diffuse large b-cell lymphoma 10.0
13 malignant histiocytosis 10.0 DCLRE1C RAG1 RAG2
14 breast cancer 10.0
15 systemic lupus erythematosus 10.0
16 small cell cancer of the lung 10.0
17 suppressor of tumorigenicity 3 10.0
18 isolated growth hormone deficiency, type ia 10.0
19 ascaris lumbricoides infection 10.0
20 male infertility 10.0
21 thyroid cancer 10.0
22 infertility 10.0
23 lupus erythematosus 10.0
24 dwarfism 10.0
25 glioblastoma 10.0
26 alpha-thalassemia/mental retardation syndrome, x-linked 9.9 NBN PRKDC XRCC5 XRCC6
27 fanconi anemia, complementation group a 9.9 ATM LIG4 NBN XRCC2
28 combined cellular and humoral immune defects with granulomas 9.9 RAG1 RAG2
29 omenn syndrome 9.9 DCLRE1C LIG4 RAG1 RAG2
30 ataxia-telangiectasia 9.9 ATM ATR DCLRE1C NBN PRKDC
31 severe combined immunodeficiency with sensitivity to ionizing radiation 9.8 DCLRE1C LIG4 NHEJ1 PRKDC RAG1
32 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8 ATM RAG1 RAG2
33 microcephaly 9.8 ATR LIG4 NBN NHEJ1 XRCC4
34 postencephalitic parkinson disease 9.8 LRRK2 XRCC6
35 psoriatic juvenile idiopathic arthritis 9.8 NLRP3 NOD2

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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Human phenotypes related to Lig4 Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
3 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
4 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
5 bird-like facies 60 33 hallmark (90%) Very frequent (99-80%) HP:0000320
6 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
7 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
8 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
9 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
10 pancytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001876
11 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
12 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
13 telecanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000506
14 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
15 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
16 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
17 acute leukemia 60 33 frequent (33%) Frequent (79-30%) HP:0002488
18 lymphoma 60 33 frequent (33%) Frequent (79-30%) HP:0002665
19 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
20 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
21 large beaked nose 60 33 frequent (33%) Frequent (79-30%) HP:0003683
22 severe combined immunodeficiency 60 33 frequent (33%) Frequent (79-30%) HP:0004430
23 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
24 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
25 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
26 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
27 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
28 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
29 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
30 leukocytosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001974
31 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
32 lymphadenopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002716
33 telangiectasia 33 very rare (1%) HP:0001009
34 delayed speech and language development 33 HP:0000750
35 immunodeficiency 60 Very frequent (99-80%)
36 myelodysplasia 33 HP:0002863
37 abnormality of the skeletal system 60 Occasional (29-5%)
38 thrombocytopenia 33 HP:0001873
39 abnormality of bone marrow cell morphology 60 Frequent (79-30%)
40 psoriasiform dermatitis 33 HP:0003765

Symptoms via clinical synopsis from OMIM:

58
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

Genitourinary Internal Genitalia Male:
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

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

27 (show all 45)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.65 ATM PRKDC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.65 DCLRE1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.65 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.65 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.65 ATR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.65 DCLRE1C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.65 ATM DCLRE1C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.65 LIG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.65 LIG1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.65 DCLRE1C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.65 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.65 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.65 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.65 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.65 ATR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.65 LIG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.65 LIG1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.65 LRRK2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.65 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.65 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.65 ATM LRRK2 PRKDC
22 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.65 ATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.65 LRRK2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.65 ATM PRKDC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.65 LRRK2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.65 LIG1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.65 PRKDC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.65 LIG1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.65 ATM
30 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.65 LIG1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.65 ATR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.65 PRKDC
33 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.65 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.65 ATM LIG1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.65 LIG1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.65 ATM ATR DCLRE1C LIG1 LRRK2 PRKDC
37 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.65 LRRK2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.65 DCLRE1C
39 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.93 ATM ATR DCLRE1C LIG1 LIG4 NBN
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.88 ATM ATR LIG1 LIG4 NBN NLRP3
41 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 ATM ATR LIG1 LIG4 NBN NLRP3
42 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.71 ATM ATR LRRK2 PRKDC
43 Decreased viability after gemcitabine stimulation GR00107-A-2 9.54 ATM ATR PRKDC
44 Reduced mammosphere formation GR00396-S 9.5 ATM ATR DCLRE1C PRKDC XRCC2 XRCC5
45 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.32 ATM ATR

MGI Mouse Phenotypes related to Lig4 Syndrome:

47 (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 10.44 ATM ATR DCLRE1C LIG1 LIG4 LRIG2
3 hematopoietic system MP:0005397 10.4 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
4 immune system MP:0005387 10.39 ATM ATR DCLRE1C LIG1 LIG4 LRIG2
5 endocrine/exocrine gland MP:0005379 10.37 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
6 homeostasis/metabolism MP:0005376 10.35 ATM ATR LIG1 LIG4 LRRK2 NBN
7 behavior/neurological MP:0005386 10.3 ATM ATR LIG4 LRIG2 LRRK2 NBN
8 mortality/aging MP:0010768 10.27 ATM ATR LIG1 LIG4 LRIG2 LRRK2
9 integument MP:0010771 10.17 ATM ATR LIG1 LRIG2 LRRK2 NLRP3
10 neoplasm MP:0002006 10.17 ATM ATR LIG1 LIG4 LRIG2 NBN
11 digestive/alimentary MP:0005381 10.14 ATR LIG4 NLRP3 NOD2 PRKDC RAG1
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

About this section

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 30 LIG4
Sources

Anatomical Context for Lig4 Syndrome

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MalaCards organs/tissues related to Lig4 Syndrome:

42
B Cells, Skin, T Cells, Bone, Bone Marrow, Lung, Breast
Sources

Publications for Lig4 Syndrome

About this section

Articles related to Lig4 Syndrome:

(show all 19)
# Title Authors Year
1
LIG4 Syndrome Associated with Hypocellular Myeloid Dysplasia. ( 29491294 )
2018
2
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature. ( 30719430 )
2018
3
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype. ( 28039949 )
2017
4
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
5
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
6
Molecular and immunological characterization of DNA ligase IV deficiency. ( 26762768 )
2016
7
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. ( 20133615 )
2010
8
A novel mutation in a family with DNA ligase IV deficiency syndrome. ( 19418549 )
2009
9
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. ( 17345618 )
2007
10
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. ( 17224058 )
2007
11
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. ( 16357942 )
2006
12
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. ( 16088910 )
2005
13
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. ( 15279811 )
2004
14
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. ( 15333585 )
2004
15
Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity. ( 11349135 )
2001
16
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. ( 11779494 )
2001
17
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. ( 10911993 )
2000
18
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. ( 11040211 )
2000
19
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. ( 10395545 )
1999
Sources

Variations for Lig4 Syndrome

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

76
# 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 192)
# 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.26C> T (p.Thr9Ile) single nucleotide variant Benign rs1805388 GRCh37 Chromosome 13, 108863591: 108863591
12 LIG4 NM_002312.3(LIG4): c.26C> T (p.Thr9Ile) single nucleotide variant Benign rs1805388 GRCh38 Chromosome 13, 108211243: 108211243
13 LIG4 NM_002312.3(LIG4): c.1298_1300delAAC (p.Gln433del) deletion Pathogenic rs587776663 GRCh37 Chromosome 13, 108862317: 108862319
14 LIG4 NM_002312.3(LIG4): c.1298_1300delAAC (p.Gln433del) deletion Pathogenic rs587776663 GRCh38 Chromosome 13, 108209969: 108209971
15 LIG4 NM_002312.3(LIG4): c.1704T> C (p.Asp568=) single nucleotide variant Benign/Likely benign rs1805386 GRCh37 Chromosome 13, 108861913: 108861913
16 LIG4 NM_002312.3(LIG4): c.1704T> C (p.Asp568=) single nucleotide variant Benign/Likely benign rs1805386 GRCh38 Chromosome 13, 108209565: 108209565
17 LIG4 NM_002312.3(LIG4): c.1798G> A (p.Glu600Lys) single nucleotide variant Benign rs61731910 GRCh38 Chromosome 13, 108209471: 108209471
18 LIG4 NM_002312.3(LIG4): c.1798G> A (p.Glu600Lys) single nucleotide variant Benign rs61731910 GRCh37 Chromosome 13, 108861819: 108861819
19 LIG4 NM_002312.3(LIG4): c.513T> C (p.Leu171=) single nucleotide variant Conflicting interpretations of pathogenicity rs3093764 GRCh37 Chromosome 13, 108863104: 108863104
20 LIG4 NM_002312.3(LIG4): c.513T> C (p.Leu171=) single nucleotide variant Conflicting interpretations of pathogenicity rs3093764 GRCh38 Chromosome 13, 108210756: 108210756
21 LIG4 NM_002312.3(LIG4): c.1312T> C (p.Tyr438His) single nucleotide variant Likely pathogenic rs886037777 GRCh38 Chromosome 13, 108209957: 108209957
22 LIG4 NM_002312.3(LIG4): c.1312T> C (p.Tyr438His) single nucleotide variant Likely pathogenic rs886037777 GRCh37 Chromosome 13, 108862305: 108862305
23 LIG4 NM_002312.3(LIG4): c.1271_1275delAAAGA (p.Lys424Argfs) deletion Pathogenic rs772226399 GRCh37 Chromosome 13, 108862342: 108862346
24 LIG4 NM_002312.3(LIG4): c.1271_1275delAAAGA (p.Lys424Argfs) deletion Pathogenic rs772226399 GRCh38 Chromosome 13, 108209994: 108209998
25 LIG4 NM_002312.3(LIG4): c.*1035G> A single nucleotide variant Likely benign rs10131 GRCh38 Chromosome 13, 108207498: 108207498
26 LIG4 NM_002312.3(LIG4): c.*1035G> A single nucleotide variant Likely benign rs10131 GRCh37 Chromosome 13, 108859846: 108859846
27 LIG4 NM_002312.3(LIG4): c.*855_*856insTTTT insertion Likely benign rs146506306 GRCh38 Chromosome 13, 108207677: 108207678
28 LIG4 NM_002312.3(LIG4): c.*855_*856insTTTT insertion Likely benign rs146506306 GRCh37 Chromosome 13, 108860025: 108860026
29 LIG4 NM_002312.3(LIG4): c.*599_*602delCTTA deletion Likely benign rs3093770 GRCh38 Chromosome 13, 108207931: 108207934
30 LIG4 NM_002312.3(LIG4): c.*599_*602delCTTA deletion Likely benign rs3093770 GRCh37 Chromosome 13, 108860279: 108860282
31 LIG4 NM_002312.3(LIG4): c.*562_*563insAAT insertion Likely benign rs112171260 GRCh38 Chromosome 13, 108207970: 108207971
32 LIG4 NM_002312.3(LIG4): c.*562_*563insAAT insertion Likely benign rs112171260 GRCh37 Chromosome 13, 108860318: 108860319
33 LIG4 NM_002312.3(LIG4): c.*486A> G single nucleotide variant Uncertain significance rs543340651 GRCh38 Chromosome 13, 108208047: 108208047
34 LIG4 NM_002312.3(LIG4): c.*486A> G single nucleotide variant Uncertain significance rs543340651 GRCh37 Chromosome 13, 108860395: 108860395
35 LIG4 NM_002312.3(LIG4): c.*352A> C single nucleotide variant Uncertain significance rs886049944 GRCh38 Chromosome 13, 108208181: 108208181
36 LIG4 NM_002312.3(LIG4): c.*352A> C single nucleotide variant Uncertain significance rs886049944 GRCh37 Chromosome 13, 108860529: 108860529
37 LIG4 NM_002312.3(LIG4): c.*306A> G single nucleotide variant Uncertain significance rs886049945 GRCh38 Chromosome 13, 108208227: 108208227
38 LIG4 NM_002312.3(LIG4): c.*306A> G single nucleotide variant Uncertain significance rs886049945 GRCh37 Chromosome 13, 108860575: 108860575
39 LIG4 NM_002312.3(LIG4): c.*242A> G single nucleotide variant Uncertain significance rs886049946 GRCh38 Chromosome 13, 108208291: 108208291
40 LIG4 NM_002312.3(LIG4): c.*242A> G single nucleotide variant Uncertain significance rs886049946 GRCh37 Chromosome 13, 108860639: 108860639
41 LIG4 NM_002312.3(LIG4): c.*166G> C single nucleotide variant Uncertain significance rs538355612 GRCh38 Chromosome 13, 108208367: 108208367
42 LIG4 NM_002312.3(LIG4): c.*166G> C single nucleotide variant Uncertain significance rs538355612 GRCh37 Chromosome 13, 108860715: 108860715
43 LIG4 NM_002312.3(LIG4): c.*56G> C single nucleotide variant Uncertain significance rs886049947 GRCh38 Chromosome 13, 108208477: 108208477
44 LIG4 NM_002312.3(LIG4): c.*56G> C single nucleotide variant Uncertain significance rs886049947 GRCh37 Chromosome 13, 108860825: 108860825
45 LIG4 NM_002312.3(LIG4): c.2518A> G (p.Ile840Val) single nucleotide variant Uncertain significance rs200369995 GRCh38 Chromosome 13, 108208751: 108208751
46 LIG4 NM_002312.3(LIG4): c.2518A> G (p.Ile840Val) single nucleotide variant Uncertain significance rs200369995 GRCh37 Chromosome 13, 108861099: 108861099
47 LIG4 NM_002312.3(LIG4): c.2274T> C (p.Tyr758=) single nucleotide variant Uncertain significance rs529756815 GRCh37 Chromosome 13, 108861343: 108861343
48 LIG4 NM_002312.3(LIG4): c.2274T> C (p.Tyr758=) single nucleotide variant Uncertain significance rs529756815 GRCh38 Chromosome 13, 108208995: 108208995
49 LIG4 NM_002312.3(LIG4): c.1198A> C (p.Ile400Leu) single nucleotide variant Uncertain significance rs886049949 GRCh38 Chromosome 13, 108210071: 108210071
50 LIG4 NM_002312.3(LIG4): c.1198A> C (p.Ile400Leu) single nucleotide variant Uncertain significance rs886049949 GRCh37 Chromosome 13, 108862419: 108862419
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:

38
# Name Kegg Source Accession
1 Non-homologous end-joining hsa03450

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 67
Show member pathways
 13.1 ATM ATR DCLRE1C LIG1 LIG4 NBN
2
Chks in Checkpoint Regulation 65
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 67
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 67
Show member pathways
 12.12 ATM ATR NBN XRCC2
7
DNA Double Strand Break Response 67
Show member pathways
 11.97 ATM DCLRE1C LIG4 NBN NHEJ1 PRKDC
8
Immune response IL-2 activation and signaling pathway 23
Show member pathways
 11.79 NBN XRCC5 XRCC6
9
BRCA1 Pathway 65
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 23
11.31 ATM ATR NBN
14
Primary immunodeficiency 38
11.22 DCLRE1C RAG1 RAG2
15
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 62
11.1 ATM ATR PRKDC XRCC4
16
BARD1 signaling events 1
11.1 ATM ATR NBN PRKDC XRCC5 XRCC6
17
Telomere Extension by Telomerase 65
Show member pathways
 11.07 NBN XRCC5 XRCC6
18
Canonical NF-kappaB pathway 1
10.96 ATM NOD2
19
DNA Damage Induced 14-3-3Sigma Signaling 65
10.86 ATM ATR
20
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 10.78 ATM NBN
21
DNA damage_NHEJ mechanisms of DSBs repair 23
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 replication fork GO:0005657 9.48 NBN XRCC2
5 nuclear telomere cap complex GO:0000783 9.46 XRCC5 XRCC6
6 DNA ligase IV complex GO:0032807 9.43 LIG4 NHEJ1 XRCC4
7 Ku70:Ku80 complex GO:0043564 9.4 XRCC5 XRCC6
8 nonhomologous end joining complex GO:0070419 9.17 DCLRE1C LIG4 NHEJ1 PRKDC XRCC4 XRCC5
9 nucleus GO:0005634 10.27 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
10 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 52)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.97 ATM ATR LIG1 LIG4 NBN
2 peptidyl-serine phosphorylation GO:0018105 9.96 ATM ATR LRRK2 PRKDC
3 double-strand break repair GO:0006302 9.95 DCLRE1C LIG4 NBN NHEJ1 PRKDC XRCC4
4 DNA repair GO:0006281 9.93 ATM ATR DCLRE1C LIG1 LIG4 NBN
5 telomere maintenance GO:0000723 9.91 ATM ATR DCLRE1C NBN PRKDC XRCC5
6 B cell differentiation GO:0030183 9.88 DCLRE1C NHEJ1 RAG1 RAG2
7 DNA duplex unwinding GO:0032508 9.87 NBN XRCC5 XRCC6
8 response to ionizing radiation GO:0010212 9.85 ATM DCLRE1C LIG4 NHEJ1 PRKDC
9 positive regulation of type I interferon production GO:0032481 9.83 PRKDC XRCC5 XRCC6
10 positive regulation of telomere maintenance via telomerase GO:0032212 9.81 ATM ATR XRCC5
11 T cell differentiation in thymus GO:0033077 9.81 LIG4 PRKDC RAG1 RAG2
12 DNA damage checkpoint GO:0000077 9.8 ATM ATR NBN
13 response to gamma radiation GO:0010332 9.8 LIG4 PRKDC XRCC2
14 cellular response to gamma radiation GO:0071480 9.8 ATM ATR XRCC5 XRCC6
15 positive regulation of neurogenesis GO:0050769 9.79 LIG4 XRCC2 XRCC5
16 activation of innate immune response GO:0002218 9.77 PRKDC XRCC5 XRCC6
17 response to X-ray GO:0010165 9.76 LIG4 XRCC2 XRCC4
18 cellular response to X-ray GO:0071481 9.73 ATM XRCC5 XRCC6
19 establishment of integrated proviral latency GO:0075713 9.73 LIG4 XRCC4 XRCC5 XRCC6
20 V(D)J recombination GO:0033151 9.73 DCLRE1C LIG1 LIG4 PRKDC RAG1 RAG2
21 regulation of smooth muscle cell proliferation GO:0048660 9.72 PRKDC XRCC5 XRCC6
22 isotype switching GO:0045190 9.71 LIG4 NBN
23 DNA double-strand break processing GO:0000729 9.71 ATM NBN
24 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.71 LRRK2 NOD2
25 cellular response to lithium ion GO:0071285 9.71 LIG4 XRCC4
26 DNA ligation GO:0006266 9.71 LIG1 LIG4 XRCC6
27 replicative senescence GO:0090399 9.7 ATM ATR
28 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.7 ATM ATR
29 protein localization to chromosome, telomeric region GO:0070198 9.7 ATR XRCC5
30 DNA ligation involved in DNA repair GO:0051103 9.7 LIG1 LIG4 XRCC4
31 cellular response to peptidoglycan GO:0071224 9.69 NLRP3 NOD2
32 positive regulation of type 2 immune response GO:0002830 9.69 NLRP3 NOD2
33 negative regulation of telomere capping GO:1904354 9.68 ATM NBN
34 T cell lineage commitment GO:0002360 9.68 PRKDC RAG2
35 T cell receptor V(D)J recombination GO:0033153 9.68 LIG4 PRKDC
36 B cell lineage commitment GO:0002326 9.68 PRKDC RAG2
37 double-strand break repair via classical nonhomologous end joining GO:0097680 9.67 LIG4 XRCC6
38 immunoglobulin V(D)J recombination GO:0033152 9.67 LIG4 PRKDC
39 positive regulation of ligase activity GO:0051351 9.67 NHEJ1 XRCC4
40 pro-B cell differentiation GO:0002328 9.66 LIG4 PRKDC
41 cellular hyperosmotic salinity response GO:0071475 9.65 XRCC5 XRCC6
42 pre-B cell allelic exclusion GO:0002331 9.65 ATM RAG1 RAG2
43 DNA recombination GO:0006310 9.65 DCLRE1C LIG1 LIG4 PRKDC RAG1 RAG2
44 cytokine secretion involved in immune response GO:0002374 9.64 NLRP3 NOD2
45 detection of biotic stimulus GO:0009595 9.64 NLRP3 NOD2
46 establishment of protein-containing complex localization to telomere GO:0097695 9.61 ATM ATR
47 establishment of RNA localization to telomere GO:0097694 9.61 ATM ATR
48 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.6 ATM ATR
49 double-strand break repair via nonhomologous end joining GO:0006303 9.28 ATM DCLRE1C LIG4 NBN NHEJ1 PRKDC
50 immune system process GO:0002376 10.13 DCLRE1C NLRP3 NOD2 PRKDC XRCC5 XRCC6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.81 ATM NOD2 XRCC5 XRCC6
2 protein C-terminus binding GO:0008022 9.76 LIG4 XRCC4 XRCC5 XRCC6
3 DNA binding GO:0003677 9.73 ATM ATR LIG1 LIG4 NHEJ1 PRKDC
4 double-stranded DNA binding GO:0003690 9.71 PRKDC XRCC5 XRCC6
5 peptidoglycan binding GO:0042834 9.52 NLRP3 NOD2
6 double-stranded telomeric DNA binding GO:0003691 9.48 XRCC5 XRCC6
7 damaged DNA binding GO:0003684 9.46 DCLRE1C NBN XRCC5 XRCC6
8 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.43 XRCC5 XRCC6
9 ATP-dependent DNA helicase activity GO:0004003 9.43 NBN XRCC5 XRCC6
10 DNA ligase activity GO:0003909 9.4 LIG1 LIG4
11 DNA-dependent protein kinase activity GO:0004677 9.37 ATM PRKDC
12 ATP binding GO:0005524 9.36 ATM ATR LIG1 LIG4 LRRK2 NLRP3
13 DNA ligase (ATP) activity GO:0003910 9.32 LIG1 LIG4
14 protein binding GO:0005515 10.4 ATM ATR COX5A DCLRE1C LIG4 LRRK2
Sources

Sources for Lig4 Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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