LARS gene related symptoms and diseases

All the information presented here about the LARS 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 LARS gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hepatic failure Very Common - Between 80% and 100% cases
Acute hepatic failure Very Common - Between 80% and 100% cases
Macrocytic anemia Very Common - Between 80% and 100% cases
Microcytic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Long fingers
  • Abnormality of the coagulation cascade
  • Delayed gross motor development
  • Full cheeks
  • Hepatic steatosis
  • Lactic acidosis
  • Global developmental delay
  • Abnormality of the liver

And 9 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 LARS gene

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


ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME


Description

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Most common symptoms of ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for LARS gene

Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection that also includes the following genes: NBAS LARS

More info about this panel

Infantile Liver Failure Syndrome via LARS Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LARS gene.

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Single gene testing LARS Panel

Germany.

By CeGaT GmbH

This panel specifically test the LARS gene.

More info about this panel

LARS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LARS gene.

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 NDUFB6 CCR4 SDHC LINC00208 MXD1 ZNF41

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more