CAT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CAT gene

Symptoms // Phenotype % Cases
Gangrene Very Common - Between 80% and 100% cases
Oral ulcer Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Keratoconjunctivitis sicca Uncommon - Between 30% and 50% cases
Raynaud phenomenon Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CAT gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pulmonary infiltrates
  • Pustule
  • Uveitis
  • Aseptic necrosis
  • Pulmonary embolism
  • Hemoptysis
  • Pericarditis
  • Glomerulopathy

And 95 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CAT gene

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


BEHÇET DISEASE


Alternate names

BEHÇET DISEASE Is also known as bd, behcet disease

Description

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

Most common symptoms of BEHÇET DISEASE

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


More info about BEHÇET DISEASE

SOURCES: OMIM ORPHANET MESH

ACATALASEMIA


Alternate names

ACATALASEMIA Is also known as catalase deficiency, acatalasia

Description

Acatalasemia is a congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.

Most common symptoms of ACATALASEMIA

  • Gangrene
  • Oral ulcer
  • Reduced catalase activity


More info about ACATALASEMIA

SOURCES: ORPHANET OMIM


Potential gene panels for CAT gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Acatalasemia Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital

This panel specifically test the CAT gene.

More info about this panel

Peroxisomal Disorders Comprehensive NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Peroxisomal Disorders Comprehensive NGS Panel that also includes the following genes: SCP2 ACOX1 CAT PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4

More info about this panel

Peroxisomal Disorders Sequencing Panel Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS

More info about this panel

CAT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CAT gene.

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel


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