ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Acatalasemia

Combined immunodeficiency due to STIM1 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAT	(0.49)	STIM1

Citations in the biomedical literature:

Acatalasemia		Combined immunodeficiency due to STIM1 deficiency
	Synonym(s): - Catalase deficiency		Synonym(s): - CID due to STIM1 deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.