Genopathy
Gene-Disorder Association · Article
Gene
RBP4
Retinol Binding Protein 4
Disorder
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
First reported 2012
Supporting publications 3
Key publication · gene–disorder Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.PloS one · 2012
Key publication · disorder Familial retinol-binding-protein deficiency.Lancet (London, England) · 1987
Manually curated
Association Review

In brief

The association between RBP4 (Retinol Binding Protein 4) and Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 8
Symptoms 32
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
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome

The disorder

10 database identifiers

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

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05
Phenotype

Clinical features

13 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
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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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

3 publications

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

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09
Provenance

References & sources

9 references

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

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