LICS
MCID: LNG105
MIFTS: 29

Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS)

Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases

Aliases & Classifications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

MalaCards integrated aliases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Name: Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 57 75 6
Lics 57 75
Lung Disease, Immunodeficiency, Chromosome Breakage Syndrome 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life
four patients from 2 unrelated families have been reported (last curated december 2016)
death in first years of life


HPO:

32
lung disease, immunodeficiency, and chromosome breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

UniProtKB/Swiss-Prot : 75 Lung disease, immunodeficiency, and chromosome breakage syndrome: An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features.

MalaCards based summary : Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome, also known as lics, is related to beta-thalassemia and thalassemia. An important gene associated with Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome is NSMCE3 (NSE3 Homolog, SMC5-SMC6 Complex Component). Affiliated tissues include lung, b cells and t cells, and related phenotypes are failure to thrive and abnormal facial shape

OMIM : 57 LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016). (617241)

CDC : 3 Lice are parasitic insects that can be found on people’s heads, and bodies, including the pubic area. Human lice survive by feeding on human blood. Lice found on each area of the body are different from each other. The three types of lice that live on humans are:

Related Diseases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.2
2 thalassemia 10.2
3 sickle cell disease 10.2
4 leukemia, acute lymphoblastic 10.0
5 lymphocytic leukemia 10.0
6 newcastle disease 10.0

Graphical network of the top 20 diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:



Diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Symptoms & Phenotypes for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Head:
large anterior fontanel

Immunology:
thymic hypoplasia
decreased numbers of t cells
increased susceptibility to infection
immune dysfunction
decreased t-cell proliferative response
more
Skin Nails Hair Skin:
eczema (family a)

Neurologic Central Nervous System:
psychomotor retardation, mild (family a)

Respiratory Lung:
emphysema
bronchiolitis obliterans
hyperinflation
interstitial pneumonia
pulmonary disease, rapidly progressive
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Muscle Soft Tissue:
axial hypotonia (family a)

Laboratory Abnormalities:
karyotyping of peripheral lymphocytes shows multiple de novo supernumerary marker chromosomes and chromosome rearrangements
lymphocytes and fibroblasts show increased sensitivity to ionizing radiation


Clinical features from OMIM:

617241

Human phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 abnormal facial shape 32 occasional (7.5%) HP:0001999
3 emphysema 32 HP:0002097
4 feeding difficulties 32 HP:0011968
5 eczema 32 HP:0000964
6 wide anterior fontanel 32 HP:0000260
7 mild global developmental delay 32 HP:0011342
8 pneumonia 32 HP:0002090
9 abnormality of the thymus 32 HP:0000777
10 increased sensitivity to ionizing radiation 32 HP:0011133
11 muscular hypotonia of the trunk 32 HP:0008936
12 bronchiolitis obliterans 32 HP:0011946

GenomeRNAi Phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 8.62 FAM189A1 NSMCE3

Drugs & Therapeutics for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Search Clinical Trials , NIH Clinical Center for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genetic Tests for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Anatomical Context for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

MalaCards organs/tissues related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

41
Lung, B Cells, T Cells, Thymus

Publications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Articles related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

# Title Authors Year
1
RIPK3-dependent cell death and inflammasome activation in FLT3-ITD expressing LICs. ( 27517160 )
2016
2
Evidence for informing health policy development in Low-income Countries (LICs): perspectives of policy actors in Uganda. ( 25905479 )
2015
3
Direct coupled-channels deperturbation analysis of the A(1)Σ(+) ∼ b(3)Π complex in LiCs with experimental accuracy. ( 26093560 )
2015
4
SU-E-T-105: The LET Dependence of Liquid Ionization Chambers (LICs) in High-LET Beams. ( 28517155 )
2012
5
Experimental investigation of electronic states of LiCs dissociating to Li(2(2)S) and Cs(5(2)D) atoms. ( 21806130 )
2011
6
Inelastic collisions of ultracold polar LiCs molecules with caesium atoms in an optical dipole trap. ( 21879056 )
2011
7
Theoretical study of the LiCs molecule: adiabatic and diabatic potential energy and dipole moment. ( 20518475 )
2010
8
Photoassociation spectroscopy of the B 1Pi state of LiCs. ( 19673559 )
2009

Variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 NSMCE3 p.Pro209Leu VAR_078021 rs886037827
2 NSMCE3 p.Leu264Phe VAR_078022 rs199905054

ClinVar genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSMCE3 NM_138704.3(NSMCE3): c.790C> T (p.Leu264Phe) single nucleotide variant Pathogenic rs199905054 GRCh38 Chromosome 15, 29268916: 29268916
2 NSMCE3 NM_138704.3(NSMCE3): c.790C> T (p.Leu264Phe) single nucleotide variant Pathogenic rs199905054 GRCh37 Chromosome 15, 29561120: 29561120
3 NSMCE3 NM_138704.3(NSMCE3): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs886037827 GRCh38 Chromosome 15, 29269080: 29269080
4 NSMCE3 NM_138704.3(NSMCE3): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs886037827 GRCh37 Chromosome 15, 29561284: 29561284
5 Uncertain significance 46;XX;inv(2)(p11q13)dn inversion 0 rsRCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623 267797
6 Uncertain significance 46;XX;inv(2)(p11q13)dn inversion 0 rsRCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623 267797
7 Uncertain significance 46;XX;inv(2)(p11q13)dn inversion 0 rsRCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623;RCV000258623 267797
8 Pathogenic 46;XY;t(9;16)(p24;q22)dn Translocation 0 rsRCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725 267798
9 Pathogenic 46;XY;t(9;16)(p24;q22)dn Translocation 0 rsRCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725 267798
10 Pathogenic 46;XY;t(9;16)(p24;q22)dn Translocation 0 rsRCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725 267798
11 Pathogenic 46;XY;t(9;16)(p24;q22)dn Translocation 0 rsRCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725;RCV000258725 267798
12 Likely pathogenic 46;XY;t(3;17)(p14.3;q24.3)dn Translocation 0 rsRCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547 267799
13 Likely pathogenic 46;XY;t(3;17)(p14.3;q24.3)dn Translocation 0 rsRCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547 267799
14 Likely pathogenic 46;XY;t(3;17)(p14.3;q24.3)dn Translocation 0 rsRCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547 267799
15 Likely pathogenic 46;XY;t(3;17)(p14.3;q24.3)dn Translocation 0 rsRCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547 267799
16 Likely pathogenic 46;XY;t(3;17)(p14.3;q24.3)dn Translocation 0 rsRCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547;RCV000258547 267799
17 Pathogenic 46;XY;t(7;8)(p12.3;p11.2)dn Translocation 0 rsRCV000258660;RCV000258660;RCV000258660 267800
18 Uncertain significance 46;X;t(X;8;2)(Xpter> Xq21.2: : 2q14.2> 2qter;8qter> 8p11.1: : Xq21.2> Xqter;2pter> 2q14.2: : 8p11.1> 8pter)dn Translocation 0 rsRCV000258768;RCV000258768;RCV000258768;RCV000258768;RCV000258768;RCV000258768;RCV000258768 267801
19 Pathogenic 46;XY;t(11;19)(p11.2;p13.3)dn Translocation 0 rsRCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553 267802
20 Pathogenic 46;XY;t(11;19)(p11.2;p13.3)dn Translocation 0 rsRCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553 267802
21 Pathogenic 46;XY;t(11;19)(p11.2;p13.3)dn Translocation 0 rsRCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553 267802
22 Pathogenic 46;XY;t(11;19)(p11.2;p13.3)dn Translocation 0 rsRCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553;RCV000258553 267802
23 Uncertain significance 46;X;t(X;10)(p11.2;q24.3) Translocation 0 rsRCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658 267803
24 Uncertain significance 46;X;t(X;10)(p11.2;q24.3) Translocation 0 rsRCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658 267803
25 Uncertain significance 46;X;t(X;10)(p11.2;q24.3) Translocation 0 rsRCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658 267803
26 Uncertain significance 46;X;t(X;10)(p11.2;q24.3) Translocation 0 rsRCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658 267803
27 Uncertain significance 46;X;t(X;10)(p11.2;q24.3) Translocation 0 rsRCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658;RCV000258658 267803
28 Likely pathogenic 46;XX;ins(3;1)(q23;p22p32)dn Translocation 0 rsRCV000258775;RCV000258775;RCV000258775;RCV000258775;RCV000258775;RCV000258775;RCV000258775 267804
29 Likely pathogenic 46;XX;ins(3;1)(q23;p22p32)dn Translocation 0 rsRCV000258775;RCV000258775;RCV000258775;RCV000258775;RCV000258775;RCV000258775;RCV000258775 267804
30 Uncertain significance 46;XY;t(7;12)(q21.13;q24)dn Translocation 0 rsRCV000258601;RCV000258601;RCV000258601;RCV000258601 267805
31 Uncertain significance 46;XY;t(7;12)(q21.13;q24)dn Translocation 0 rsRCV000258601;RCV000258601;RCV000258601;RCV000258601 267805
32 Uncertain significance 46;XY;t(7;12)(q21.13;q24)dn Translocation 0 rsRCV000258601;RCV000258601;RCV000258601;RCV000258601 267805
33 Uncertain significance 46;XY;t(7;12)(q21.13;q24)dn Translocation 0 rsRCV000258601;RCV000258601;RCV000258601;RCV000258601 267805
34 Uncertain significance 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation 0 rsRCV000258706;RCV000258706;RCV000258706;RCV000258706;RCV000258706;RCV000258706 267806
35 Uncertain significance 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation 0 rsRCV000258706;RCV000258706;RCV000258706;RCV000258706;RCV000258706;RCV000258706 267806
36 Uncertain significance 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation 0 rsRCV000258706;RCV000258706;RCV000258706;RCV000258706;RCV000258706;RCV000258706 267806
37 Likely pathogenic 46;XY;t(7;9)(q21;p23)dn Translocation 0 rsRCV000258774;RCV000258774;RCV000258774;RCV000258774;RCV000258774;RCV000258774 267807
38 Likely pathogenic 46;XY;t(7;9)(q21;p23)dn Translocation 0 rsRCV000258774;RCV000258774;RCV000258774;RCV000258774;RCV000258774;RCV000258774 267807
39 Uncertain significance 46;XY;t(4;14)(p15.32;q32.1)dn Translocation 0 rsRCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611 267808
40 Uncertain significance 46;XY;t(4;14)(p15.32;q32.1)dn Translocation 0 rsRCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611 267808
41 Uncertain significance 46;XY;t(4;14)(p15.32;q32.1)dn Translocation 0 rsRCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611 267808
42 Uncertain significance 46;XY;t(4;14)(p15.32;q32.1)dn Translocation 0 rsRCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611 267808
43 Uncertain significance 46;XY;t(4;14)(p15.32;q32.1)dn Translocation 0 rsRCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611 267808
44 Uncertain significance 46;XY;t(4;14)(p15.32;q32.1)dn Translocation 0 rsRCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611;RCV000258611 267808
45 Pathogenic 46;XY;t(8;9)(q13;p22)dn Translocation 0 rsRCV000258722;RCV000258722;RCV000258722;RCV000258722;RCV000258722 267809
46 Pathogenic 46;XY;t(8;9)(q13;p22)dn Translocation 0 rsRCV000258722;RCV000258722;RCV000258722;RCV000258722;RCV000258722 267809
47 Pathogenic 46;XY;t(8;9)(q13;p22)dn Translocation 0 rsRCV000258722;RCV000258722;RCV000258722;RCV000258722;RCV000258722 267809
48 Uncertain significance 46;XX;t(4;15)(q31.3;q15) Translocation 0 rsRCV000258535;RCV000258535;RCV000258535;RCV000258535;RCV000258535;RCV000258535 267810
49 Uncertain significance 46;XX;t(4;15)(q31.3;q15) Translocation 0 rsRCV000258535;RCV000258535;RCV000258535;RCV000258535;RCV000258535;RCV000258535 267810
50 Pathogenic 46;X;t(X;19)(p22.1;p13.3)dn Translocation 0 rsRCV000258645;RCV000258645;RCV000258645;RCV000258645 267811

Expression for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Search GEO for disease gene expression data for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome.

Pathways for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

GO Terms for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Sources for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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