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.
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
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
Search interest in CAT
Potential gene panels for CAT gene
MitoMet®Plus aCGH Analysis Panel
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 panelAcatalasemia Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the CAT gene.
More info about this panelPeroxisomal Disorders Comprehensive NGS Panel Panel
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 panelPeroxisomal Disorders Sequencing Panel Panel
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 panelCAT Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CAT gene.
More info about this panelPeroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
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
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