NOD2 gene related symptoms and diseases
All the information presented here about the NOD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NOD2 gene
Symptoms // Phenotype | % Cases |
---|---|
Autoimmunity | Common - Between 50% and 80% cases |
Arthritis | Common - Between 50% and 80% cases |
Fever | Common - Between 50% and 80% cases |
Papule | Common - Between 50% and 80% cases |
Pericarditis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NOD2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Inflammatory abnormality of the skin
- Posterior uveitis
- Iridocyclitis
- Arthralgia
- Weight loss
- Glaucoma
- Abdominal pain
- Diarrhea
And 165 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NOD2 gene
Here you will find a list of rare diseases related to the NOD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BEHÇET DISEASE
Alternate names
BEHÇET DISEASE Is also known as bd, behcet disease
Description
Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
Most common symptoms of BEHÇET DISEASE
- Seizures
- Ataxia
- Neoplasm
- Pain
- Cataract
More info about BEHÇET DISEASE
BLAU SYNDROME
Description
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
Most common symptoms of BLAU SYNDROME
- Cataract
- Anemia
- Hypertension
- Fever
- Splenomegaly
More info about BLAU SYNDROME
SOURCES: ORPHANET
BLAU SYNDROME; BLAUS
Alternate names
BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis, granulomatous inflammatory arthritis, dermatitis, and uveitis, familial, eos, jabs syndrome, granulomatosis, familial juvenile systemic, acug, sarcoidosis, early-onset, granulomatosis, familial, blau type
Description
Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).
Most common symptoms of BLAU SYNDROME; BLAUS
- Hearing impairment
- Failure to thrive
- Cataract
- Flexion contracture
- Visual impairment
More info about BLAU SYNDROME; BLAUS
SOURCES: OMIM
INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1
Most common symptoms of INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1
- Growth delay
- Neoplasm
- Diarrhea
- Abdominal pain
- Weight loss
More info about INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1
PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS
Alternate names
PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia, juvenile psoriatic arthritis
Description
Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.
Most common symptoms of PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS
- Arthritis
- Autoimmunity
- Inflammatory abnormality of the skin
- Psoriasiform dermatitis
- Juvenile rheumatoid arthritis
More info about PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS
YAO SYNDROME; YAOS
Description
Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).
Most common symptoms of YAO SYNDROME; YAOS
- Pain
- Fever
- Diarrhea
- Abdominal pain
- Weight loss
More info about YAO SYNDROME; YAOS
SOURCES: OMIM
Search interest in NOD2
Potential gene panels for NOD2 gene
Blau Syndrome (NOD2/CARD15 Complete Gene) Panel
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the NOD2 gene.
More info about this panelCrohn's Disease - NOD2/CARD15 Complete Gene Analysis Panel
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the NOD2 gene.
More info about this panelNOD2 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NOD2 gene.
More info about this panelNOD2 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NOD2 gene.
More info about this panelNOD2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the NOD2 gene.
More info about this panelNOD2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NOD2 gene.
More info about this panelNOD2. Sequencing of the exons 5, 8 and 11 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NOD2 gene.
More info about this panelSarcoidosis, early-onset (sequence analysis of NOD2 gene) Panel
By CGC Genetics
This panel specifically test the NOD2 gene.
More info about this panelBlau syndrome (sequence analysis of NOD2 gene) Panel
By CGC Genetics
This panel specifically test the NOD2 gene.
More info about this panelCrohn disease (sequence analysis of NOD2 gene) Panel
By CGC Genetics
This panel specifically test the NOD2 gene.
More info about this panelPeriodic Fever Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV
More info about this panelPediatric Granulomatous Arthritis via NOD2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the NOD2 gene.
More info about this panelNephrology Endocrinology and Electrolytes - panels Panel
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panelCrohn Disease Panel
By Bioscientia GmbH Center for Human Genetics Crohn Disease that also includes the following genes: NOD2 IL6
More info about this panelAutoinflammatory panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2
More info about this panelSarcoidosis, early-onset Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NOD2 gene.
More info about this panelBlau syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NOD2 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelCrohn disease Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the NOD2 gene.
More info about this panelSingle gene testing NOD2 Panel
By CeGaT GmbH
This panel specifically test the NOD2 gene.
More info about this panelAutoinflammatory diseases Panel Panel
By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE
More info about this panelSyndromes with immunodeficiency Panel Panel
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panelCrohn Disease (NOD2) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the NOD2 gene.
More info about this panelInvitae Primary Immunodeficiency Panel Panel
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 panelInvitae Autoinflammatory Syndromes Panel Panel
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panelBlau syndrome: NOD2 (CARD15) gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NOD2 gene.
More info about this panelBlau syndrome: NOD2 (CARD15) gene sequence analysis (exon 4) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NOD2 gene.
More info about this panelCrohn disease: NOD2 (CARD15) gene mutation analysis (p.R702W, p.G908R,1007fs) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NOD2 gene.
More info about this panelCrohn disease: NOD2 (CARD15) gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NOD2 gene.
More info about this panelNOD2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NOD2 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 panelAutoinflammatory Syndrome Panel Panel
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panelChronic Granulomatous Disease Panel Panel
By Blueprint Genetics Chronic Granulomatous Disease Panel that also includes the following genes: CYBA CYBB G6PD NOD2 NCF1 NCF2 NCF4
More info about this panelInflammatory bowel disease 1 Panel
By Bioarray
This panel specifically test the NOD2 gene.
More info about this panelBLAU SYNDROME Panel
By Bioarray
This panel specifically test the NOD2 gene.
More info about this panelNOD2 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the NOD2 gene.
More info about this panelPeriodic Fever NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Periodic Fever NGS and Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panelCROHN´S DISEASE (SUSCEPTIBILITY) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the NOD2 gene.
More info about this panelPERIODIC FEVER Panel
By Laboratorio de Genetica Clinica SL PERIODIC FEVER that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panelBLAU SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the NOD2 gene.
More info about this panelCrohn Disease, Sequencing NOD2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the NOD2 gene.
More info about this panelBlau Syndrome , Sequencing NOD2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the NOD2 gene.
More info about this panelCrohn Disease, Mutations (p.R702W, p.G908R, 1007fs) NOD2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the NOD2 gene.
More info about this panelInflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panelHereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TNFRSF1A NLRP3 NOD2 MEFV MVK PSTPIP1
More info about this panelCrohn Disease Panel
By Labor Dr. Wisplinghoff
This panel specifically test the NOD2 gene.
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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