Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Renal coloboma syndrome.

European journal of human genetics : EJHG - 1 Dec 2011

Schimmenti Lisa A

Abstract excerpt

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve coloboma or morning glory anomaly. Associated findings may...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to PAX2 Transcription Factor
Share to Renal Insufficiency
Share to Vesico-Ureteral Reflux

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Coloboma

Share to Disease Models, Animal

Share to Genetic Counseling

Share to Genetic Testing

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 21654726
DOI: 10.1038/ejhg.2011.102
PMCID: PMC3230355

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Renal coloboma syndrome.PMID 21654726Read ↗

Renal coloboma syndrome.Semantic proximity Read ↗

A clinico-genetic study of renal coloboma syndrome in children.Semantic proximity Read ↗

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.Semantic proximity Read ↗

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by aPAX2mutationSemantic proximity Read ↗

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseSemantic proximity Read ↗

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.Semantic proximity Read ↗

Ocular manifestations of renal ciliopathiesSemantic proximity Read ↗

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.Semantic proximity Read ↗

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)Semantic proximity Read ↗

[Renal-coloboma syndrome].Semantic proximity Read ↗

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.Semantic proximity Read ↗

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.