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

COL7A1 COL4A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Acral dystrophic epidermolysis bullosa
COL7A1
Familial vascular leukoencephalopathy
COL4A1



Acral dystrophic epidermolysis bullosa
Familial vascular leukoencephalopathy

Synonym(s):
- DEB, acral
- DEB-ac

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

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

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

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

Acral dystrophic epidermolysis bullosa

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Familial vascular leukoencephalopathy

(no data available)