Details of Disease

General Information of Disease (ID: DISBFZO9)

Disease Name Progressive retinal dystrophy due to retinol transport defect
Synonyms retinal dystrophy, iris coloboma, and comedogenic acne syndrome; RDCCAS; retinol dystrophy-iris coloboma-comedogenic acne syndrome
Definition
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DISBFZO9: Progressive retinal dystrophy due to retinol transport defect
Disease Identifiers
MONDO ID
MONDO_0014060
UMLS CUI
C3554593
OMIM ID
615147
MedGen ID
767507
Orphanet ID
352718

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RBP4 TT0C8BY Strong Biomarker [1]
RBP4 TT0C8BY Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RBP4 OTL9RBH5 Definitive Autosomal recessive [2]
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References

1 Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.Ophthalmic Genet. 2017 Sep-Oct;38(5):465-466. doi: 10.1080/13816810.2016.1227453. Epub 2016 Nov 28.
2 Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest Ophthalmol Vis Sci. 1999 Jan;40(1):3-11.