Phenotypes associated with the disease acatalasia (OMIM:614097):
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: TAS. (OMIM:614097)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11001624)
- Reduced circulating catalase activity (HP:0012517): Activity or concentration of catalase in the blood circulation below the lower limit of normal. Evidence: PCS. (PMID:11001624)