acatalasia
Findings
No curated finding names acatalasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
Definition from the Mondo Disease Ontology (MONDO:0013571), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced circulating catalase activityHPOHP:0012517
- Very frequent (80% to 99% of cases)
- Oral ulcerHPOHP:0000155
- Frequent (30% to 79% of cases)
- GangreneHPOHP:0100758
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- Occasional (5% to 29% of cases)
- GingivitisHPOHP:0000230
- Occasional (5% to 29% of cases)
- Microcytic anemiaHPOHP:0001935
- Occasional (5% to 29% of cases)
- Old-aged sensorineural hearing impairment
Show the remaining 5
- ParkinsonismHPOHP:0001300
- Very rare (1% to 4% of cases)
- Premature loss of permanent teethHPOHP:0006357
- Very rare (1% to 4% of cases)
- SchizophreniaHPOHP:0100753
- Very rare (1% to 4% of cases)
- Type I diabetes mellitusHPOHP:0100651
- Very rare (1% to 4% of cases)
- VitiligoHPOHP:0001045
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CATHGNC:1516
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: acatalasia
- Also called
- acatalasemiacatalase deficiency