Clinical Signs and Symptoms
ORPHA:926 Acatalasemia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Reduced catalase activity HP:0012517
Very frequent
- Oral ulcer HP:0000155
Frequent
- Gangrene HP:0100758
- Gingival bleeding HP:0000225
- Gingivitis HP:0000230
- Microcytic anemia HP:0001935
- Old-aged sensorineural hearing impairment HP:0040113
- Severe periodontitis HP:0000166
- Type II diabetes mellitus HP:0005978
Occasional
- Arteriosclerosis HP:0002634
- Neoplasm of the larynx HP:0100605
- Pain HP:0012531
- Parkinsonism HP:0001300
- Premature loss of permanent teeth HP:0006357
- Schizophrenia HP:0100753
- Type I diabetes mellitus HP:0100651
- Vitiligo HP:0001045
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.