Categories: Genetic diseases, Rare diseases, Metabolic diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Acatalasemia:
Orphanet epidemiological data:53
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:51 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).
UniProtKB/Swiss-Prot:69 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.
Genetics Home Reference:25 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.
Wikipedia:70 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 17)
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:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet