IL1RN gene related symptoms and diseases
All the information presented here about the IL1RN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IL1RN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Uncommon - Between 30% and 50% cases |
| Onychomadesis | Uncommon - Between 30% and 50% cases |
| Pustule | Uncommon - Between 30% and 50% cases |
| Thrombocytosis | Uncommon - Between 30% and 50% cases |
| Stomatitis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IL1RN gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Fused cervical vertebrae
- Fetal distress
- Low-grade fever
- Cerebral vasculitis
- Periostitis
- Chronic recurrent multifocal osteomyelitis
- Neoplasm
- Fragile skin
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IL1RN gene
Here you will find a list of rare diseases related to the IL1RN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS
Alternate names
STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency, interleukin 1 receptor antagonist deficiency, autoinflammatory disease due to interleukin-1 receptor antagonist deficiency, dira, ompp
Description
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.
Most common symptoms of STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS
- Pain
- Feeding difficulties
- Hepatomegaly
- Fever
- Respiratory insufficiency
More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS
HEREDITARY DIFFUSE GASTRIC CANCER
Alternate names
HEREDITARY DIFFUSE GASTRIC CANCER Is also known as hereditary diffuse cancer of stomach, hereditary diffuse gastric adenocarcinoma, familial diffuse cancer of stomach, familial diffuse gastric cancer, gastric cancer, familial diffuse, fdgc, hdgc, gastric cancer, hereditary diffuse
Description
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.
Most common symptoms of HEREDITARY DIFFUSE GASTRIC CANCER
- Neoplasm
- Cleft palate
- Carcinoma
- Cleft lip
- Cleft upper lip
More info about HEREDITARY DIFFUSE GASTRIC CANCER
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4
Alternate names
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4 Is also known as nephropathy, diabetic, susceptibility to
More info about MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4
SOURCES: OMIM
Search interest in IL1RN
Potential gene panels for IL1RN gene
IL1RN Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the IL1RN gene.
More info about this panel Germany.
IL1RN. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IL1RN gene.
More info about this panel Spain.
IL1RN. Detection of the polymorphism of the intron 2 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IL1RN gene.
More info about this panel Spain.
Periodontitis susceptibility test (3 polymorphisms) and detection of periodontal pathogens agents (panel of 4 main bacteria) Panel
Portugal.
By CGC Genetics Periodontitis susceptibility test (3 polymorphisms) and detection of periodontal pathogens agents (panel of 4 main bacteria) that also includes the following genes: IL1A IL1B IL1RN
More info about this panel Portugal.
Periodontal disease susceptibility test (3 polymorphisms) Panel
Portugal.
By CGC Genetics
This panel specifically test the IL1RN gene.
More info about this panel Portugal.
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency (sequence analysis of IL1RN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IL1RN gene.
More info about this panel Portugal.
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency (sequence analysis of IL1RN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IL1RN gene.
More info about this panel Portugal.
IL1RN Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the IL1RN gene.
More info about this panel Netherlands.
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.
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.
Osteomyelitis, sterile multifocal, with periostitis and pustulosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IL1RN 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.
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.
IL1RN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IL1RN 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.
IL1RN 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 IL1RN gene.
More info about this panel United States.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
INTERLEUKIN-1 RECEPTOR ANTAGONIST DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the IL1RN gene.
More info about this panel Spain.
Interleukin 1 Receptor Antagonist Deficiency , Sequencing IL1RN Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IL1RN gene.
More info about this panel Spain.
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: CCN6 LPIN2 TRPV4 ACAN HPGD IL1RN
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NTF3 HSPG2 ZNF430 NBAS ATXN2 TNXB AGMO