IL1B gene related symptoms and diseases

All the information presented here about the IL1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IL1B gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Ophthalmoplegia Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with IL1B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Myoclonus
  • Hypogonadism
  • Abnormality of mitochondrial metabolism
  • Acidosis
  • Dyspnea
  • Lactic acidosis
  • Depressivity
  • Stroke-like episode

And 379 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IL1B gene

Here you will find a list of rare diseases related to the IL1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KEARNS-SAYRE SYNDROME


Alternate names

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, cpeo with myopathy, oculocraniosomatic syndrome, ophthalmoplegia, progressive external, with ragged-red fibers, cpeo with ragged-red fibers, chronic progressive external ophthalmoplegia wi

Description

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Most common symptoms of KEARNS-SAYRE SYNDROME

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about KEARNS-SAYRE SYNDROME

SOURCES: OMIM MESH ORPHANET

MERRF


Alternate names

MERRF Is also known as fukuhara syndrome, myoclonus epilepsy associated with ragged-red fibres, merrf syndrome

Description

MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

Most common symptoms of MERRF

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about MERRF

SOURCES: MESH ORPHANET OMIM

MELAS


Alternate names

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Description

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

Most common symptoms of MELAS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about MELAS

SOURCES: ORPHANET OMIM MESH

BRONCHOPULMONARY DYSPLASIA


Alternate names

BRONCHOPULMONARY DYSPLASIA Is also known as bpd

Description

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.

Most common symptoms of BRONCHOPULMONARY DYSPLASIA

  • Respiratory distress
  • Dyspnea
  • Cough
  • Small for gestational age
  • Sleep disturbance


More info about BRONCHOPULMONARY DYSPLASIA

SOURCES: MESH ORPHANET

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


Potential gene panels for IL1B gene

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 Periodontal disease susceptibility test (3 polymorphisms) that also includes the following genes: IL1A IL1B

More info about this panel

IL1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IL1B gene.

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


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