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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 2
3 OMIM references -
4 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Isolated ATP synthase deficiency

APP ATP5A1
ATP5E
ATPAF1
ATPAF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
APP
(0.56)
(0.56)
ATP5A1
ATPAF2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Isolated ATP synthase deficiency
ATP5A1 ATP5E ATPAF1 ATPAF2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Isolated ATP synthase deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Isolated mitochondrial respiratory chain complex V deficiency

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

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



Isolated ATP synthase deficiency

(no data available)