Genopathy
Gene-Disorder Association · Article
Gene
RBP4
Retinol Binding Protein 4
Disorder
Progressive Retinal Dystrophy Due To Retinol Transport Defect
First reported 1999
Supporting publications 3
Key publication · disorder Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.Investigative ophthalmology & visual science · 1999
Manually curated
Association Review

In brief

The association between RBP4 (Retinol Binding Protein 4) and Progressive Retinal Dystrophy Due To Retinol Transport Defect is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 8
Symptoms 0
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
RBP4

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Progressive Retinal Dystrophy Due To Retinol Transport Defect

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

8 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

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