DCLRE1C gene related symptoms and diseases

All the information presented here about the DCLRE1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DCLRE1C gene

Symptoms // Phenotype % Cases
Failure to thrive Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Severe combined immunodeficiency Common - Between 50% and 80% cases
Chronic diarrhea Common - Between 50% and 80% cases
Lymphoma Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with DCLRE1C gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pneumonia
  • Combined immunodeficiency
  • Fever
  • Diarrhea
  • Not very common - Between 30% and 50% cases

  • Panhypogammaglobulinemia
  • Abnormal lymphocyte morphology
  • Hashimoto thyroiditis
  • Lymph node hypoplasia

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DCLRE1C gene

Here you will find a list of rare diseases related to the DCLRE1C. 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

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DCLRE1C DEFICIENCY


Alternate names

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DCLRE1C DEFICIENCY Is also known as scid, athabascan type, scid due to artemis deficiency, scid, athabaskan type, severe combined immunodeficiency, athabascan type, severe combined immunodeficiency, athabaskan type, scid due to dclre1c deficiency, severe combined immunodeficiency due to artemis d

Description

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.


More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DCLRE1C DEFICIENCY

SOURCES: ORPHANET

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION


Alternate names

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION Is also known as rs-scid, scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation

Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

  • Failure to thrive
  • Fever
  • Abnormality of the skeletal system
  • Diarrhea
  • Immunodeficiency


More info about SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

SOURCES: OMIM ORPHANET


Potential gene panels for DCLRE1C gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Known Mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the DCLRE1C gene.

More info about this panel

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the DCLRE1C gene.

More info about this panel

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E DCLRE1C ADA IL2RG IL7R JAK3 RAG1 RAG2

More info about this panel

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing) that also includes the following genes: DCLRE1C RAG1 RAG2

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

DCLRE1C (Artemis) 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 DCLRE1C gene.

More info about this panel

DCLRE1C (Artemis) 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 DCLRE1C gene.

More info about this panel

DCLRE1C. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DCLRE1C gene.

More info about this panel

DCLRE1C. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DCLRE1C 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

Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) Panel

Portugal.

By CGC Genetics Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes) that also includes the following genes: STX11 STXBP2 DCLRE1C UNC13D PRF1 RAG1 RAG2

More info about this panel

Omenn syndrome (sequence analysis of DCLRE1C gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DCLRE1C gene.

More info about this panel

Severe Combined Immunodeficiency/Omenn Syndrome via DCLRE1C (ARTEMIS) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DCLRE1C gene.

More info about this panel

Omenn Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Omenn Syndrome Sequencing Panel with CNV Detection that also includes the following genes: DCLRE1C IL7R RAG1 RAG2

More info about this panel

ARTEMIS gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the DCLRE1C gene.

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

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

Omenn syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DCLRE1C gene.

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

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

Severe immunodeficiency with sensitivity to ionizing radiation Panel

Denmark.

By Department of Clinical Immunology Odense University Hospital

This panel specifically test the DCLRE1C gene.

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

Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6

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

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6

More info about this panel

DCLRE1C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DCLRE1C gene.

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

Omenn syndrome Panel

Spain.

By Bioarray

This panel specifically test the DCLRE1C gene.

More info about this panel

Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel that also includes the following genes: CD3D CD3E DCLRE1C ADA IL2RG IL7R JAK3 RAG1 RAG2

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

SEVERE COMBINED IMMUNODEFICIENCY(SCID)- SENSITIVITY TO IONIZING RADIATION (T- B- NK+) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the DCLRE1C gene.

More info about this panel

Omenn Syndrome, Sequencing DCLRE1C Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DCLRE1C gene.

More info about this panel

Omenn Syndrome , Deletions-Duplications (MLPA) DCLRE1C Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DCLRE1C gene.

More info about this panel

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA

More info about this panel

Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1

More info about this panel


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