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Progressive retinal dystrophy due to retinol transport defect
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Familial amyloid polyneuropathy
Transthyretin-related familial amyloid cardiomyopathy
Choroideremia
Congenital analbuminemia
Leber congenital amaurosis
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Synonym(s):
- Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
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 recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RBP4 P02753180250
No signs/symptoms info available.