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11 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial cerebral saccular aneurysm
Combined oxidative phosphorylation defect type 4

COL3A1 TUFM
ENG
TGFBR3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENG
(0.49)
TUFM



Citations in the biomedical literature:


Familial cerebral saccular aneurysm
COL3A1 ENG TGFBR3
Combined oxidative phosphorylation defect type 4
TUFM



Familial cerebral saccular aneurysm
Combined oxidative phosphorylation defect type 4

Synonym(s):
- Familial berry aneurysm
- Familial intracranial saccular aneurysm

Synonym(s):
- COXPD4

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.