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Reis-Bücklers corneal dystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
Reis-Bücklers corneal dystrophy
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

TGFBI
(UniProt - OMIM)
 COL4A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TGFBI
(0.52)
COL4A1


Citations in the biomedical literature:


Reis-Bücklers corneal dystrophy
TGFBI
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
COL4A1



Reis-Bücklers corneal dystrophy
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Synonym(s):
- Anterior limiting membrane dystrophy type I
- Atypical granular corneal dystrophy
- Corneal dystrophy of Bowman layer type I
- Geographic corneal dystrophy
- Granular corneal dystrophy type III
- RBCD
- Superficial granular corneal dystrophy
Synonym(s):
- HANAC syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.