Details of Disease | DrugMAP

General Information of Disease (ID: DIS69O87)

Disease Name	DNA ligase IV deficiency
Synonyms	LIG4 syndrome; ligase 4 syndrome; DNA ligase IV deficiency
Definition	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).
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DIS6SVEE: Syndromic disease DIS225UQ: T-B- severe combined immunodeficiency DIS69O87: DNA ligase IV deficiency
Disease Identifiers	MONDO ID MONDO_0011686 MESH ID C564694 UMLS CUI C1847827 OMIM ID 606593 MedGen ID 339855 Orphanet ID 99812 SNOMED CT ID 724177005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIG4	OT40DNXU	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.