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DNA ligase IV deficiency

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
Uniprot Description Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011686:  DNA ligase IV deficiency
MESH:C564694: 
NCIT:C122657: 
Orphanet:99812: 
SCTID:724177005: 
UMLS:C1847827: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)