DISEASE: LIG4 syndrome


Entry
H02015                      Disease                                
Name
LIG4 syndrome
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]
Description
LIG4 syndrome is an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene which encodes DNA ligase IV. The clinical phenotype closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H02015  LIG4 syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02015  LIG4 syndrome
Related
pathway
hsa03450  Non-homologous end-joining
Network
nt06506  Double-strand break repair
Gene
LIG4 [HSA:3981] [KO:K10777]
Comment
Disorder of DNA repair system
Other DBs
ICD-11: 4A01.1Y
ICD-10: D81.1
OMIM: 606593
Reference
PMID:16088910
  Authors
Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM
  Title
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
  Journal
Am J Med Genet A 137A:283-7 (2005)
DOI:10.1002/ajmg.a.30869

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (6)   

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