Acatalasemia

Description

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

Clinical Features

Phenotypes and symptoms related to Acatalasemia

  • Gangrene
  • Oral ulcer
  • Reduced catalase activity

Incidence and onset information

— Based on the latest data available ACATALASEMIA have a estimated prevalence of 3.2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Acatalasemia Is also known as catalase deficiency, acatalasia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Acatalasemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Acatalasemia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

CAT
Specificity
100 %
Genes
100 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, CAT, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, TRIM37, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SCP2, ACOX1, CAT, GDAP1, PEX26, MFF, FAR1, DNM1L, PEX5L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11A, PEX11B , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
CAT.

By Fulgent Genetics Fulgent Genetics (United States).

CAT
Specificity
100 %
Genes
100 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics (Spain).

SCP2, SGSH, SLC17A5, SMPD1, ACOX1, MCOLN1, AGXT2, NPC2, CAT, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, PEX26, GNPTG, LMBRD1, CTNS , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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