CD3E gene related symptoms and diseases
All the information presented here about the CD3E gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CD3E gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Neoplasm of the gastrointestinal tract | Uncommon - Between 30% and 50% cases |
| Gastrointestinal stroma tumor | Uncommon - Between 30% and 50% cases |
| Leiomyosarcoma | Uncommon - Between 30% and 50% cases |
| Soft tissue sarcoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CD3E gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Mastocytosis
- Neoplasm of the small intestine
- Neoplasm of the rectum
- Esophageal neoplasm
- Neoplasm of the colon
- Neoplasm of the stomach
- Gastrointestinal obstruction
- Giant hypertrophic gastritis
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CD3E gene
Here you will find a list of rare diseases related to the CD3E. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
IMMUNODEFICIENCY 18; IMD18
Alternate names
IMMUNODEFICIENCY 18; IMD18 Is also known as cd3-epsilon deficiency
Description
Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).
Most common symptoms of IMMUNODEFICIENCY 18; IMD18
- Immunodeficiency
- Recurrent infections
- Pneumonia
- Recurrent respiratory infections
- Otitis media
More info about IMMUNODEFICIENCY 18; IMD18
SOURCES: OMIM
T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD3DELTA/CD3EPSILON/CD3ZETA
Alternate names
T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD3DELTA/CD3EPSILON/CD3ZETA Is also known as t-b+ scid due to cd3delta/cd3epsilon/cd3zeta
More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD3DELTA/CD3EPSILON/CD3ZETA
SOURCES: ORPHANET
Search interest in CD3E
Potential gene panels for CD3E gene
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E ADA IL2RG IL7R JAK3 RAG1 RAG2
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): CD3E (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the CD3E gene.
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID): CD3E (Known Mutation) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the CD3E gene.
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID): Three-gene Profile (IL7R, CD3D, CD3E) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID): Three-gene Profile (IL7R, CD3D, CD3E) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E IL7R
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.
CD3E 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 CD3E gene.
More info about this panel United States.
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 United States.
CD3E 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 CD3E gene.
More info about this panel United States.
CD3E Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CD3E gene.
More info about this panel Netherlands.
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.
B-positive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company B-positive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1
More info about this panel Germany.
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.
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.
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 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: CD3D CD3E CD247 CORO1A IL7R PTPRC
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: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1 IL2RG
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.
CD3E Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CD3E 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.
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.
CD3E Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CD3E gene.
More info about this panel United States.
SEVERE COMBINED IMMUNODEFICIENCY (SCID) T- B+ NK+, (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID) T- B+ NK+, (AUTOSOMAL RECESSIVE) that also includes the following genes: CD3D CD3E IL7R PTPRC
More info about this panel Spain.
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 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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