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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial vascular leukoencephalopathy
Centripetalis recessive dystrophic epidermolysis bullosa

COL4A1 COL7A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
(0.75)
COL7A1



Citations in the biomedical literature:


Familial vascular leukoencephalopathy
COL4A1
Centripetalis recessive dystrophic epidermolysis bullosa
COL7A1



Familial vascular leukoencephalopathy
Centripetalis recessive dystrophic epidermolysis bullosa

Synonym(s):
- Brain small vessel disease with hemorrhage
- Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy

Synonym(s):
- Centripetal dystrophic epidermolysis bullosa
- Centripetal recessive dystrophic epidermolysis bullosa
- RDEB, centripetalis
- RDEB-Ce

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C531642
External references:
No OMIM references
No MeSH references

Centripetalis recessive dystrophic epidermolysis bullosa

Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium



Familial vascular leukoencephalopathy

(no data available)