Acatalasia

Synonyms: ACATALASEMIA, HUNGARIAN TYPE; Acatalasemia; Catalase deficiency

Summary

Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia (Ogata, 1991). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

CAT
24 tests
Also known as: , CAT
Summary: catalase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of head or neck
- Oral ulcer
  Oral ulcer
  - MedGen UID: 57699
  - Concept ID: C0149745
  - Finding: Disease or Syndrome
  Abnormality of head or neck
  See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
- Reduced circulating catalase activity
  Reduced circulating catalase activity
  - MedGen UID: 868475
  - Concept ID: C4022869
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature

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