LIG4 gene related symptoms and diseases

All the information presented here about the LIG4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LIG4 gene

Symptoms // Phenotype % Cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Lymphoma Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LIG4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Low anterior hairline
  • Severe combined immunodeficiency
  • Cutaneous photosensitivity
  • Epicanthus
  • Chronic diarrhea
  • Malabsorption
  • Nephrotic syndrome
  • Dry skin

And 174 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIG4 gene

Here you will find a list of rare diseases related to the LIG4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OMENN SYNDROME


Alternate names

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia, reticuloendotheliosis, familial, with eosinophilia, severe combined immunodeficiency with hypereosinophilia

Description

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

Most common symptoms of OMENN SYNDROME

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


More info about OMENN SYNDROME

SOURCES: ORPHANET OMIM

LIG4 SYNDROME


Alternate names

LIG4 SYNDROME Is also known as dna ligase iv deficiency, ligase 4 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).

Most common symptoms of LIG4 SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


More info about LIG4 SYNDROME

SOURCES: OMIM MESH ORPHANET

DUBOWITZ SYNDROME


Description

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Most common symptoms of DUBOWITZ SYNDROME

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about DUBOWITZ SYNDROME

SOURCES: ORPHANET

MULTIPLE MYELOMA


Alternate names

MULTIPLE MYELOMA Is also known as plasma cell myeloma, myelomatosis, kahler's disease, medullary plasmacytoma

Description

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

Most common symptoms of MULTIPLE MYELOMA

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


More info about MULTIPLE MYELOMA

SOURCES: ORPHANET OMIM


Potential gene panels for LIG4 gene

Chromosome Breakage Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Chromosome Breakage Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: BLM NHEJ1 LIG4 NBN ATM

More info about this panel

Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA

More info about this panel

LIG4 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the LIG4 gene.

More info about this panel

Chromosome Breakage Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Chromosome Breakage Disorders Deletion/Duplication Panel that also includes the following genes: BLM NHEJ1 LIG4 NBN ATM

More info about this panel

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1

More info about this panel

LIG4 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the LIG4 gene.

More info about this panel

Seckel Syndrome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Seckel Syndrome Panel that also includes the following genes: NIN PCNT CENPJ CEP63 CEP152 DNA2 TRAIP LIG4 ATR RBBP8

More info about this panel

Comprehensive Primordial Dwarfism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2

More info about this panel

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

LIG4 Syndrome Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children

This panel specifically test the LIG4 gene.

More info about this panel

Severe combined immunodeficiency Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficency Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficiency Del/dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

LIG4 syndrome (sequence analysis of LIG4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIG4 gene.

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

LIG4 Syndrome via LIG4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LIG4 gene.

More info about this panel

Microcephalic primordial dwarfism Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63

More info about this panel

Microcephalic primordial dwarfism Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63

More info about this panel

Microcephalic primordial dwarfism NGS panel Panel

United States.

By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63

More info about this panel

Lig4-Syndrome and LIG4-Syndrome-like Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Lig4-Syndrome and LIG4-Syndrome-like that also includes the following genes: XRCC4 LIG4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Severe combined immunodeficiency (SCID) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A

More info about this panel

Comprehensive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C

More info about this panel

LIG4 syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LIG4 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

B-negative SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company B-negative SCID panel that also includes the following genes: DCLRE1C ADA NHEJ1 AK2 LIG4 RAC2 RAG1 RAG2

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Bone marrow failure syndromes Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2

More info about this panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ZAP70 CD3D CD3E CD247 DCLRE1C ADA CORO1A NHEJ1 AK2 IL2RG

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: DCLRE1C NHEJ1 LIG4 PRKDC RAG1 RAG2

More info about this panel

Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: DCLRE1C NHEJ1 LIG4 PRKDC

More info about this panel

Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel that also includes the following genes: ZAP70 DCLRE1C ADA NHEJ1 LIG4 PNP PTPRC RAC2 RAG1 RAG2

More info about this panel

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

LIG4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LIG4 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel

DYSKERATOSIS CONGENITA Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 GRHL2

More info about this panel

DUBOWITZ SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL DUBOWITZ SYNDROME that also includes the following genes: NSUN2 LIG4

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


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