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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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


Potential gene panels for NOD2 gene

Blau Syndrome (NOD2/CARD15 Complete Gene) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the NOD2 gene.

More info about this panel
United States.

Crohn's Disease - NOD2/CARD15 Complete Gene Analysis Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the NOD2 gene.

More info about this panel
United States.

NOD2 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 NOD2 gene.

More info about this panel
United States.

NOD2 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 NOD2 gene.

More info about this panel
United States.

NOD2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

NOD2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

NOD2. Sequencing of the exons 5, 8 and 11 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Sarcoidosis, early-onset (sequence analysis of NOD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NOD2 gene.

More info about this panel
Portugal.

Blau syndrome (sequence analysis of NOD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NOD2 gene.

More info about this panel
Portugal.

Crohn disease (sequence analysis of NOD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NOD2 gene.

More info about this panel
Portugal.

Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Pediatric Granulomatous Arthritis via NOD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NOD2 gene.

More info about this panel
United States.

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

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 panel
Germany.

Crohn Disease Panel

Germany.

By Bioscientia GmbH Center for Human Genetics Crohn Disease that also includes the following genes: NOD2 IL6

More info about this panel
Germany.

Autoinflammatory panel Panel

Netherlands.

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 panel
Netherlands.

Sarcoidosis, early-onset Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

Blau syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

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 panel
Germany.

Crohn disease Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

Single gene testing NOD2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

Autoinflammatory diseases Panel Panel

Germany.

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 panel
Germany.

Syndromes with immunodeficiency Panel Panel

Germany.

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 panel
Germany.

Crohn Disease (NOD2) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

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 Autoinflammatory Syndromes Panel Panel

United States.

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 panel
United States.

Blau syndrome: NOD2 (CARD15) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Blau syndrome: NOD2 (CARD15) gene sequence analysis (exon 4) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Crohn disease: NOD2 (CARD15) gene mutation analysis (p.R702W, p.G908R,1007fs) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Crohn disease: NOD2 (CARD15) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

NOD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NOD2 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.

Autoinflammatory Syndrome Panel Panel

Finland.

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 panel
Finland.

Chronic Granulomatous Disease Panel Panel

Finland.

By Blueprint Genetics Chronic Granulomatous Disease Panel that also includes the following genes: CYBA CYBB G6PD NOD2 NCF1 NCF2 NCF4

More info about this panel
Finland.

Inflammatory bowel disease 1 Panel

Spain.

By Bioarray

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

BLAU SYNDROME Panel

Spain.

By Bioarray

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

NOD2 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 NOD2 gene.

More info about this panel
United States.

Periodic Fever NGS and Deletion/Duplication Panel Panel

United States.

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 panel
United States.

CROHN´S DISEASE (SUSCEPTIBILITY) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

PERIODIC FEVER Panel

Spain.

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 panel
Spain.

BLAU SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Crohn Disease, Sequencing NOD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Blau Syndrome , Sequencing NOD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Crohn Disease, Mutations (p.R702W, p.G908R, 1007fs) NOD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NOD2 gene.

More info about this panel
Spain.

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

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 panel
Spain.

Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

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 panel
Spain.

Crohn Disease Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the NOD2 gene.

More info about this panel
Germany.

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
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MMACHC ASPA KLHL40 RLIM HIKESHI ADK PTAFR