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.

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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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for CD40 gene

Hyper IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CD40 gene.

More info about this panel

Hyper IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Known mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CD40 gene.

More info about this panel

Hyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing) Panel

Canada.

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 panel

Hyper IgM Syndrome (HIGM): Three-gene Profile (AICDA, UNG, CD40) (Full Gene Sequencing) Panel

Canada.

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 panel

Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Immunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CD40 gene.

More info about this panel

Immunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CD40 gene.

More info about this panel

Immunodeficiency with hyper-IgM, type 3 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CD40 gene.

More info about this panel

Hyper IgM Syndrome Sequencing Panel with CNV Detection Panel

United States.

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 panel

CD40 gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the CD40 gene.

More info about this panel

B cell pathology panel Panel

Netherlands.

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 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

Immunodeficiency type 3, with hyper-IgM Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CD40 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

Antibody deficiencies Panel Panel

Germany.

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 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

CD40 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CD40 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

Immune Report Card Panel

United States.

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 panel

HYPER-IgM SYNDROME TYPE 3 (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CD40 gene.

More info about this panel

Hyper IgM Syndrome Type 3 , Sequencing CD40 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CD40 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

Hyper IgM Syndrome ,Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

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 panel

Tempus xT assay Panel

United States.

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 panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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