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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
5 signs/symptoms
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Dystrophic epidermolysis bullosa, nails only

COL4A1 COL7A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
COL4A1
Dystrophic epidermolysis bullosa, nails only
COL7A1



Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Dystrophic epidermolysis bullosa, nails only

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

Synonym(s):
- DEB-na
- Nails-only DEB

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

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

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

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

Dystrophic epidermolysis bullosa, nails only

Very frequent
- Abnormal toenails
- Autosomal dominant inheritance
- Nails anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Autosomal recessive inheritance


Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

(no data available)