LICS
MCID: LNG105
MIFTS: 32

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

Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases
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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 73 38
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome; 28 5
Lics 57 73
Lung Disease, Immunodeficiency, Chromosome Breakage Syndrome 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



Summaries for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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) (Updated 08-Dec-2022)

MalaCards based summary: Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome, also known as lung disease, immunodeficiency, and chromosome breakage syndrome;, is related to allergic disease and lung disease. An important gene associated with Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome is NSMCE3 (NSE3 Homolog, SMC5-SMC6 Complex Component). Affiliated tissues include lung, t cells and thymus, and related phenotypes are cerebral calcification and depressed nasal bridge

UniProtKB/Swiss-Prot: 73 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.

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 allergic disease 10.0
2 lung disease 10.0
3 twin-reversed arterial perfusion sequence 10.0

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

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

30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 30 Very rare (1%) HP:0002514
2 depressed nasal bridge 30 Very rare (1%) HP:0005280
3 hypertelorism 30 Very rare (1%) HP:0000316
4 failure to thrive in infancy 30 Very rare (1%) HP:0001531
5 hypoplasia of the thymus 30 Very rare (1%) HP:0000778
6 eczema 30 Very rare (1%) HP:0000964
7 midface retrusion 30 Very rare (1%) HP:0011800
8 wide anterior fontanel 30 Very rare (1%) HP:0000260
9 small for gestational age 30 Very rare (1%) HP:0001518
10 increased circulating igm level 30 Very rare (1%) HP:0003496
11 increased sensitivity to ionizing radiation 30 Very rare (1%) HP:0011133
12 bronchiolitis obliterans 30 Very rare (1%) HP:0011946
13 decreased proportion of cd8-positive t cells 30 Very rare (1%) HP:0005415
14 increased circulating ige level 30 Very rare (1%) HP:0003212
15 decreased proportion of cd4-positive helper t cells 30 Very rare (1%) HP:0005407
16 axial hypotonia 30 Very rare (1%) HP:0008936
17 reduced delayed hypersensitivity 30 Very rare (1%) HP:0002972
18 feeding difficulties 30 HP:0011968
19 mild global developmental delay 30 HP:0011342
20 reduced antigen-specific t cell proliferation 30 HP:0031402

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Head And Neck Head:
large anterior fontanel

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

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

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

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

Muscle Soft Tissue:
axial hypotonia (family a)
subcutaneous emphysema

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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 8.62 ENTREP2 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

Genetic tests related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

# Genetic test Affiliating Genes
1 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome; 28 NSMCE3

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

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

MalaCards : Lung, T Cells, Thymus, Myeloid, Bone Marrow, Liver, Breast

Publications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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

(show top 50) (show all 603)
# Title Authors PMID Year
1
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. 57 5
27427983 2016
2
Bio-nanoconjugates of lithocholic acid/IR 780 for ROS-mediated apoptosis and optoacoustic imaging applications in breast cancer. 62
36403414 2023
3
Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia. 62
36302855 2022
4
LICs in the UK: why do we need our own definition? 62
36469570 2022
5
Applicability of European Society of Cardiology guidelines according to gross national income. 62
36396400 2022
6
Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries. 62
36328042 2022
7
P2X1 enhances leukemogenesis through PBX3-BCAT1 pathways. 62
36418376 2022
8
Characterization of fine particulate matter from indoor cooking with solid biomass fuels. 62
36437670 2022
9
Targeting Leukemia-Initiating Cells and Leukemic Niches: The Next Therapy Station for T-Cell Acute Lymphoblastic Leukemia? 62
36428753 2022
10
Advances of Carbon Materials for Dual-Carbon Lithium-Ion Capacitors: A Review. 62
36432240 2022
11
Epidemiology, Management, and Outcomes of Sepsis in ICUs among Countries of Differing National Wealth across Asia. 62
35763381 2022
12
Hierarchical architecture of two-dimensional Ti3C2 [email protected] framework derivatives as anode for hybrid li-ion capacitors. 62
35576651 2022
13
The impact of COVID-19 on international development aid and health systems strengthening in low-income countries. 62
36164644 2022
14
The relationship between economic growth and environmental degradation: could West African countries benefit from EKC hypothesis? 62
35616844 2022
15
Second Footprint of Reports from Low- and Low- to Middle-Income Countries in the Neurosurgical Data: A Study from 2018-2020 Compared with Data from 2015-2017. 62
36220490 2022
16
The landscape of international oral and maxillofacial surgery collaborations from 1996 to 2020: a scoping review of the published literature. 62
35568657 2022
17
Noncanonical β-catenin interactions promote leukemia-initiating activity in early T-cell acute lymphoblastic leukemia. 62
36315912 2022
18
Burnout Syndrome Among Anesthesia Providers Working in Public Hospitals in Rwanda: A Cross-Sectional Survey. 62
35452008 2022
19
Achieving access to haemophilia care in low-income and lower-middle-income countries: expanded Humanitarian Aid Program of the World Federation of Hemophilia after 5 years. 62
36055333 2022
20
The burden of asthma, hay fever and eczema in children in 25 countries: GAN Phase I study. 62
35144987 2022
21
'It was the worst possible timing': the response of UK Longitudinal Integrated Clerkships to Covid-19. 62
35770614 2022
22
Influence of sociocultural beliefs and practices on contraception: a systematic review. 62
36082451 2022
23
COVID-19 Aftermath: Direction Towards Universal Health Coverage in Low-Income Countries Comment on "Health Coverage and Financial Protection in Uganda: A Political Economy Perspective". 62
36243945 2022
24
Estimating deaths averted and cost per life saved by scaling up mRNA COVID-19 vaccination in low-income and lower-middle-income countries in the COVID-19 Omicron variant era: a modelling study. 62
36100306 2022
25
Inter-hospital Transfer Delays to a Tertiary Referral Center and Postoperative Outcomes in Patients with Abdominal Surgical Emergencies in Malawi. 62
35570239 2022
26
Factors associated with health-related quality of life in heart failure in 23 000 patients from 40 countries: results of the G-CHF research programme. 62
35570198 2022
27
Medical Student Identity Construction Within Longitudinal Integrated Clerkships: An International, Longitudinal Qualitative Study. 62
35507462 2022
28
The socioeconomic gradient of alcohol use: an analysis of nationally representative survey data from 55 low-income and middle-income countries. 62
35961350 2022
29
How to enhance students' learning in a patient-centered longitudinal integrated clerkship: factors associated with students' learning experiences. 62
36070990 2022
30
Impact of COVID-19 on global burn care. 62
34903416 2022
31
Nirmatrelvir combined with ritonavir for preventing and treating COVID-19. 62
36126225 2022
32
A Review of the Nucleic Acid-Based Lateral Flow Assay for Detection of Breast Cancer from Circulating Biomarkers at a Point-of-Care in Low Income Countries. 62
36010323 2022
33
Comparing human exposure to fine particulate matter in low and high-income countries: A systematic review of studies measuring personal PM2.5 exposure. 62
35421472 2022
34
Can the Framing of Climate Mitigation Actions into Government Policies Lead to Delivering Them? - Insights from Nepal's Experience. 62
35460358 2022
35
Lithium Cholesterol Sulfate: A Novel and Potential Drug for Treating Alzheimer's Disease and Autism Spectrum Disorder. 62
36028968 2022
36
More Pain, More Gain! The Delivery of COVID-19 Vaccines and the Pharmaceutical Industry's Role in Widening the Access Gap. 62
36028975 2022
37
Anxiety among Adolescents and Young Adults during COVID-19 Pandemic: A Multi-Country Survey. 62
36078253 2022
38
Suppressing crucial oncogenes of leukemia initiator cells by major royal jelly protein 2 for mediating apoptosis in myeloid and lymphoid leukemia cells. 62
35929786 2022
39
Leukemia-initiating HSCs in chronic lymphocytic leukemia reveal clonal leukemogenesis and differential drug sensitivity. 62
35858552 2022
40
Global road safety 2010-18: An analysis of Global Status Reports. 62
35906119 2022
41
Diagnosing autism in low-income countries: Clinical record-based analysis in Sri Lanka. 62
35707912 2022
42
Rainfall shocks, child mortality, and water infrastructure. 62
35388563 2022
43
Light-induced charged slippery surfaces. 62
35857475 2022
44
Prelithiation Bridges the Gap for Developing Next-Generation Lithium-Ion Batteries/Capacitors. 62
35680608 2022
45
Exploring the learning environment afforded by an Aboriginal Community Controlled Health service in a rural longitudinal integrated clerkship. 62
35343387 2022
46
A Mechanically Flexible Necklace-Like Architecture for Achieving Fast Charging and High Capacity in Advanced Lithium-Ion Capacitors. 62
35661404 2022
47
Who tells the story of burns in low-and-middle income countries? - A bibliometric study. 62
35787966 2022
48
The differential role of the lipid raft-associated protein flotillin 2 for progression of myeloid leukemia. 62
35298613 2022
49
The effects of negative economic shocks at birth on adolescents' cognitive outcomes and educational attainment in Malawi. 62
35493407 2022
50
Authorship representation in global emergency medicine: a bibliometric analysis from 2016 to 2020. 62
35760436 2022

Variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSMCE3, FAM189A1 NM_138704.4(NSMCE3):c.626C>T (p.Pro209Leu) SNV Pathogenic
267796 rs886037827 GRCh37: 15:29561284-29561284
GRCh38: 15:29269080-29269080
2 NSMCE3, ENTREP2 NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe) SNV Pathogenic
267795 rs199905054 GRCh37: 15:29561120-29561120
GRCh38: 15:29268916-29268916
3 NSMCE3, FAM189A1 NM_138704.4(NSMCE3):c.586A>G (p.Thr196Ala) SNV Uncertain Significance
1034263 rs752251822 GRCh37: 15:29561324-29561324
GRCh38: 15:29269120-29269120

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

73
# Symbol AA change Variation ID SNP ID
1 NSMCE3 p.Pro209Leu VAR_078021 rs886037827
2 NSMCE3 p.Leu264Phe VAR_078022 rs199905054

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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