Genopathy
Gene-Disorder Association · Article
Gene
RPGR
Retinitis Pigmentosa GTPase Regulator
Disorder
Macular Degeneration, Atrophic, X-Linked
First reported 2002
Supporting publications 1
Key publication · gene–disorder X-linked recessive atrophic macular degeneration from RPGR mutation.Genomics · 2002
Key publication · disorder Charcot-Marie-Tooth disease associated with retinal pigment dystrophy and protanopia. Neurological, ophthalmological and genetic study of a family.Journal of neurology · 1979
Manually curated
Association Review

In brief

The association between RPGR (Retinitis Pigmentosa GTPase Regulator) and Macular Degeneration, Atrophic, X-Linked is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 30
Symptoms 6
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
RPGR

The gene

1 source summary

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

Request access
04
Macular Degeneration, Atrophic, X-Linked

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

2 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

30 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

1 publication

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

Request access
09
Provenance

References & sources

6 references

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

Request access