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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

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


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

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

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

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

Periodontal disease susceptibility test (3 polymorphisms) Panel

Portugal.

By CGC Genetics

This panel specifically test the IL1RN gene.

More info about this panel

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

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

IL1RN Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the IL1RN gene.

More info about this panel

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

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

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

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

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

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

IL1RN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IL1RN 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

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PKD1L1 RANBP2 CRYBA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more