CD40 gene related symptoms and diseases
All the information presented here about the CD40 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CD40 gene
Symptoms // Phenotype | % Cases |
---|---|
Failure to thrive | Uncommon - Between 30% and 50% cases |
Abnormal heart valve morphology | Uncommon - Between 30% and 50% cases |
Abnormal myocardium morphology | Uncommon - Between 30% and 50% cases |
Allergy | Uncommon - Between 30% and 50% cases |
Myocarditis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CD40 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Tubulointerstitial nephritis
- Aortic root aneurysm
- Acute kidney injury
- Pericarditis
- Elevated erythrocyte sedimentation rate
- Inflammatory abnormality of the eye
- Interstitial pulmonary abnormality
- Coronary artery atherosclerosis
And 73 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CD40 gene
Here you will find a list of rare diseases related to the CD40. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPER-IGM SYNDROME TYPE 3
Alternate names
HYPER-IGM SYNDROME TYPE 3 Is also known as hyper-igm syndrome due to cd40 deficiency, higm3
More info about HYPER-IGM SYNDROME TYPE 3
SOURCES: ORPHANET
IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3
Alternate names
IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3
Description
HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).
Most common symptoms of IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3
- Failure to thrive
- Hepatomegaly
- Respiratory distress
- Immunodeficiency
- Pneumonia
More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3
SOURCES: OMIM
KAWASAKI DISEASE
Alternate names
KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome
Description
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
Most common symptoms of KAWASAKI DISEASE
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
More info about KAWASAKI DISEASE
Search interest in CD40
Potential gene panels for CD40 gene
Hyper IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the CD40 gene.
More info about this panelHyper IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Known mutation) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the CD40 gene.
More info about this panelHyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta Hyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing) that also includes the following genes: CD40 CD40LG UNG AICDA
More info about this panelHyper IgM Syndrome (HIGM): Three-gene Profile (AICDA, UNG, CD40) (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta Hyper IgM Syndrome (HIGM): Three-gene Profile (AICDA, UNG, CD40) (Full Gene Sequencing) that also includes the following genes: CD40 UNG AICDA
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panelImmunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene) Panel
By CGC Genetics
This panel specifically test the CD40 gene.
More info about this panelImmunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene) Panel
By CGC Genetics
This panel specifically test the CD40 gene.
More info about this panelImmunodeficiency with hyper-IgM, type 3 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CD40 gene.
More info about this panelHyper IgM Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hyper IgM Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG AICDA MRE11 NBN NFKBIA ATM
More info about this panelCD40 gene Panel
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the CD40 gene.
More info about this panelB cell pathology panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht B cell pathology panel that also includes the following genes: BTK CD40 CD40LG UNG AICDA BLNK CD19 CD79A CD79B CD81
More info about this panelSevere combined immunodeficiency (SCID) panel Panel
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 panelImmunodeficiency type 3, with hyper-IgM Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CD40 gene.
More info about this panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelAntibody deficiencies Panel Panel
By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1
More info about this panelCombined immunodeficiencies Panel Panel
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 panelCD40 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CD40 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelSevere Combined Immunodeficiency Panel Panel
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 panelImmune Report Card Panel
By OmniSeq, Inc. Immune Report Card that also includes the following genes: CXCL10 STAT1 TBX21 TGFB1 TNF TNFRSF14 TNFRSF18 CD40 CD27 TNFRSF9
More info about this panelHYPER-IgM SYNDROME TYPE 3 (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the CD40 gene.
More info about this panelHyper IgM Syndrome Type 3 , Sequencing CD40 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CD40 gene.
More info about this panelCommon Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
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 panelHyper IgM Syndrome ,Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Hyper IgM Syndrome ,Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: CD40 CD40LG UNG AICDA
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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