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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Familial vascular leukoencephalopathy
Dystrophic epidermolysis bullosa pruriginosa

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
Dystrophic epidermolysis bullosa pruriginosa
COL7A1



Familial vascular leukoencephalopathy
Dystrophic epidermolysis bullosa pruriginosa

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

Synonym(s):
- DEB, pruriginosa
- DEB-Pr
- Pruriginous dystrophic epidermolysis bullosa

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Dystrophic epidermolysis bullosa pruriginosa

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Pruritus / itching
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Follicular / erythematous / edematous papules / milium
- Lichen
- Nails anomalies



Familial vascular leukoencephalopathy

(no data available)