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Neurodegeneration with brain iron accumulation due to C19orf12 mutation
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
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Early-onset autosomal dominant Alzheimer disease

C19ORF12
(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)
C19ORF12
(0.56)
APP


Citations in the biomedical literature:


Neurodegeneration with brain iron accumulation due to C19orf12 mutation
C19ORF12
Early-onset autosomal dominant Alzheimer disease
APP PSEN1 PSEN2 SORL1



Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Early-onset autosomal dominant Alzheimer disease

Synonym(s):
- MPAN
- Mitochondrial membrane protein associated neurodegeneration
- NBIA due to C19orf12 mutation
- NBIA5
- Neurodegeneration with brain iron accumulation type 5
Synonym(s):
- EOFAD
- Early-onset familial autosomal dominant Alzheimer disease
- Familial Alzheimer disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
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.