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Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Early-onset autosomal dominant Alzheimer disease
16 OMIM references -
4 associated genes
No signs/symptoms info
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Early-onset autosomal dominant Alzheimer disease

MCEE
(UniProt - OMIM)
 APP
(UniProt - OMIM)
PSEN1
(UniProt - OMIM)
PSEN2
(UniProt - OMIM)
SORL1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MCEE
(0.56)
APP


Citations in the biomedical literature:


Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MCEE
Early-onset autosomal dominant Alzheimer disease
APP PSEN1 PSEN2 SORL1



Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Early-onset autosomal dominant Alzheimer disease

Synonym(s):
- MCEE deficiency
- Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
- Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
- Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease
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):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
16 OMIM references -
No MeSH references
No signs/symptoms info available.