Lig4 Syndrome

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Lig4 Syndrome

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cryptorchidism
  • Delayed speech and language development
  • Epicanthus
  • Hepatomegaly
  • Wide nasal bridge

And another 34 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Lig4 Syndrome Is also known as dna ligase iv deficiency, ligase 4 syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lig4 Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chromosome Breakage Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BLM, NHEJ1, LIG4, NBN, ATM
Specificity
20 %
Genes
50 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, DCLRE1C, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
5 %
Genes
50 %
LIG4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

LIG4
Specificity
100 %
Genes
50 %
Chromosome Breakage Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BLM, NHEJ1, LIG4, NBN, ATM
Specificity
20 %
Genes
50 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
6 %
Genes
50 %
LIG4 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

LIG4
Specificity
100 %
Genes
50 %
Seckel Syndrome Panel.

By Genetic Services Laboratory University of Chicago (United States).

NIN, PCNT, CENPJ, CEP63, CEP152, DNA2, TRAIP, LIG4, ATR, RBBP8
Specificity
10 %
Genes
50 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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