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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

C19ORF12 APP


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
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
- MPAN
- Mitochondrial membrane protein associated neurodegeneration
- NBIA due to C19orf12 mutation
- NBIA5
- Neurodegeneration with brain iron accumulation type 5

Synonym(s):
- HCHWA, Arctic type

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Neurodegeneration with brain iron accumulation due to C19orf12 mutation

(no data available)