LAT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LAT gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Recurrent urinary tract infections Very Common - Between 80% and 100% cases
Chronic lung disease Very Common - Between 80% and 100% cases
Severe combined immunodeficiency Very Common - Between 80% and 100% cases
Autoimmune hemolytic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Increased antibody level in blood
  • Combined immunodeficiency
  • Cerebral palsy
  • Leukoencephalopathy
  • Recurrent pneumonia
  • Lymphopenia
  • Bronchiectasis
  • Abnormal lung morphology

And 12 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 LAT gene

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


SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


Alternate names

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Description

IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for LAT gene

LAT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LAT 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

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

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 PRDM5 IL12B TRAPPC9 CNGA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more