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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
Severe neonatal-onset encephalopathy with microcephaly

CAT MECP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CAT
(0.49)
MECP2



Citations in the biomedical literature:


Acatalasemia
CAT
Severe neonatal-onset encephalopathy with microcephaly
MECP2



Acatalasemia
Severe neonatal-onset encephalopathy with microcephaly

Synonym(s):
- Catalase deficiency

Synonym(s):
- Severe congenital encephalopathy due to MECP2 mutation

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

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: before age 5
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.