MCID: LNG105
MIFTS: 24

Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Categories: Genetic diseases, Respiratory diseases, Immune 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 leukemia, acute lymphoblastic and beta-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 wide anterior fontanel and abnormality of the thymus

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 leukemia, acute lymphoblastic 9.8
2 beta-thalassemia 9.8
3 leukemia 9.8
4 thalassemia 9.8
5 lymphoblastic leukemia 9.8
6 newcastle disease 9.8
7 sickle cell disease 9.8

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

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

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
# 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

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

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
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