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2 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial porencephaly
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

COL4A1 COL4A1
COL4A2


COMMON
GENES
COL4A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A2
(0.88)
COL4A1



Citations in the biomedical literature:


Familial porencephaly
COL4A1 COL4A2
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures



Familial porencephaly
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Synonym(s):
(no synonyms)

Synonym(s):
- HANAC syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C536850
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.