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LICS
MCID: LNG105
MIFTS: 36
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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:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
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:31
lung disease, immunodeficiency, and chromosome breakage syndrome:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Infectious diseases Anatomical: Respiratory diseases Immune diseases |
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UniProtKB/Swiss-Prot :
72
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 lung disease and triiodothyronine receptor auxiliary protein. An important gene associated with Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome is NSMCE3 (NSE3 Homolog, SMC5-SMC6 Complex Component). The drugs Acetaminophen and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and liver, and related phenotypes are cerebral calcification and depressed nasal bridge 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 05-Apr-2021) |
Diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:31 (show all 20)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:617241 (Updated 05-Apr-2021) |
Drugs for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 17)
Interventional clinical trials:
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MalaCards organs/tissues related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:40
Lung,
Myeloid,
Liver,
T Cells,
Thymus,
Kidney,
Breast
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Articles related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:(show top 50) (show all 446)
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Genes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:72
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Search
GEO
for disease gene expression data for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome.
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