LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 GeneticVariation disease BEFREE Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein-Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female. 26774591 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 GeneticVariation disease BEFREE This work extends the phenotypic spectrum associated with LIG4 mutations, establishing that extreme growth retardation with microcephaly is a common presentation of bilallelic truncating mutations. 24123394 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 Biomarker disease BEFREE Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). 22373003 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 GeneticVariation disease BEFREE Deficiencies in DNA ligase 4 and the recently described Cernunnos gene result in microcephaly, growth retardation, and typical bird-like facies. 21721379 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 GeneticVariation disease BEFREE Hypomorphic LIG4 mutations in humans are associated with increased cellular radiosensitivity, microcephaly, facial dysmorphisms, growth retardation, developmental delay, and a variable degree of immunodeficiency. 20133615 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 Biomarker disease BEFREE DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining. 19418549 2009
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 GeneticVariation disease BEFREE Mutations of Lig4 are exclusively hypomorphic and have only been described in six patients, four exhibiting mild immunodeficiency associated with microcephaly and developmental delay, while two patient had leukemia. 16358361 2006
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 Biomarker disease GENOMICS_ENGLAND DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 Biomarker disease HPO