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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 associated genes
No signs/symptoms info
Progressive retinal dystrophy due to retinol transport defect
Severe early-childhood-onset retinal dystrophy

RBP4 LCA5
LRAT
RPE65
SPATA7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RBP4
(0.52)
RPE65



Citations in the biomedical literature:


Progressive retinal dystrophy due to retinol transport defect
RBP4
Severe early-childhood-onset retinal dystrophy
LCA5 LRAT RPE65 SPATA7



Progressive retinal dystrophy due to retinol transport defect
Severe early-childhood-onset retinal dystrophy

Synonym(s):
- Retinol dystrophy-iris coloboma-comedogenic acne syndrome

Synonym(s):
- EOSRD
- Early-onset severe retinal dystrophy
- SECORD

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic 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 recessive
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.