1. Mendelian
  2. Rare Disease Genes
  3. IL1A

IL1A gene related symptoms and diseases

All the information presented here about the IL1A 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.

Table of contents:

Top 5 symptoms and clinical features associated to IL1A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Lactic acidosis Very Common - Between 80% and 100% cases
Arrhythmia Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Dementia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IL1A gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Myoclonus
  • Abnormality of mitochondrial metabolism
  • Acidosis
  • Ophthalmoplegia
  • Stroke-like episode
  • Myopathy
  • Gait imbalance
  • Mitochondrial myopathy

And 349 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IL1A gene

Here you will find a list of rare diseases related to the IL1A. 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


Potential gene panels for IL1A 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
Portugal.

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
Portugal.

IL1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IL1A gene.

More info about this panel
United States.

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