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.
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
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
Search interest in DCLRE1C
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 United States.
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 United States.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 Portugal.
Omenn syndrome (sequence analysis of DCLRE1C gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DCLRE1C gene.
More info about this panel Portugal.
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 United States.
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 United States.
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 United States.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
Omenn syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DCLRE1C gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Denmark.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
DCLRE1C Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DCLRE1C gene.
More info about this panel United States.
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 Finland.
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 Finland.
Omenn syndrome Panel
Spain.
By Bioarray
This panel specifically test the DCLRE1C gene.
More info about this panel Spain.
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 United States.
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 Spain.
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 Spain.
Omenn Syndrome, Sequencing DCLRE1C Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the DCLRE1C gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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