Categories: Genetic diseases, Rare diseases, Metabolic diseases
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 11Disease Ontology, 13DISEASES, 25GTR, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Acatalasemia:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
OMIM:50 Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase... (614097) more...
MalaCards based summary: Acatalasemia, also known as acatalasia, is related to peroxisome biogenesis disorder 1a and hepatitis, and has symptoms including oral ulcer and reduced catalase activity. An important gene associated with Acatalasemia is CAT (Catalase).
Genetics Home Reference:24 Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
UniProtKB/Swiss-Prot:68 Acatalasemia: A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions.
Wikipedia:69 Acatalasia (also called acatalasemia, or Takahara\'s disease) is an autosomal recessive peroxisomal... more...
Diseases related to Acatalasemia via text searches within MalaCards or GeneCards Suite gene sharing:(show all 18)
Graphical network of diseases related to Acatalasemia:
Articles related to Acatalasemia:(show all 24)
Search GEO for disease gene expression data for Acatalasemia.
Biological processes related to Acatalasemia according to GeneCards Suite gene sharing:
Molecular functions related to Acatalasemia according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet