Genopathy
Gene-Disorder Association · Article
Gene
CELSR3
Cadherin EGF LAG Seven-Pass G-Type Receptor 3
Disorder
Hirschsprung Disease 1
First reported 1950
Key publication · disorder Congenital megacolon of a man 54 years of age: report of case.Proceedings of the staff meetings. Mayo Clinic · 1950
Manually curated
Association Review

In brief

The association between CELSR3 (Cadherin EGF LAG Seven-Pass G-Type Receptor 3) and Hirschsprung Disease 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 25
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
CELSR3

The gene

1 source summary

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

Request access
04
Hirschsprung Disease 1

The disorder

18 database identifiers

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

Request access
05
Phenotype

Clinical features

21 clinical features

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

Request access
06
Provenance

References & sources

6 references

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

Request access