Genopathy
Gene-Disorder Association · Article
Gene
LRIG2
Leucine Rich Repeats And Immunoglobulin Like Domains 2
Disorder
Urofacial Syndrome 1
First reported 1979
Supporting publications 1
Key publication · disorder Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".American journal of medical genetics · 1979
Manually curated
Association Review

In brief

The association between LRIG2 (Leucine Rich Repeats And Immunoglobulin Like Domains 2) and Urofacial Syndrome 1 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 39
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

1 source

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

Request access
03
LRIG2

The gene

1 source summary

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

Request access
04
Urofacial Syndrome 1

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Literature

Reading

1 publication

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

Request access
08
Provenance

References & sources

7 references

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

Request access