A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.

Synonyms: Deficiencies, Catalase, Hypocatalasia, Disease, Takahara, Acatalasemia Swiss Type, Disease, Takahara's, Takahara Disease, Hypocatalasemia, Acatalasemia, Acatalasia, Acatalasemia Japanese Type, Takaharas Disease, Takahara's Disease, Japanese Type, Acatalasemia, Catalase Deficiency, Deficiency, Catalase, Catalase Deficiencies, Swiss Type, Acatalasemia

Instance information

comment

2000

identifier

D020642

Instance relations