Genopathy
Gene-Disorder Association · Article
Gene
IRF6
Interferon Regulatory Factor 6
Disorder
Popliteal Pterygium Syndrome
First reported 2002
Supporting publications 45
Key publication · gene–disorder Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.Nature genetics · 2002
Key publication · disorder [An observed case: a curious hereditary syndrome cheilopalatoschisis with fistulas of the lower lip so associated with syndactyly, a peculiar onychoplasia, unilateral popliteal pterygium and pes varus equinus].Journal de genetique humaine · 1962
Manually curated
Association Review

In brief

The association between IRF6 (Interferon Regulatory Factor 6) and Popliteal Pterygium Syndrome is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 159
Symptoms 30
Compounds 0
Trials 0
Publications 45
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

4 sources

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

Request access
03
IRF6

The gene

1 source summary

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

Request access
04
Popliteal Pterygium Syndrome

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

19 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

159 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

45 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access