Genopathy
Gene-Disorder Association · Article
Gene
CFAP57
Cilia And Flagella Associated Protein 57
Disorder
Van Der Woude Syndrome 1
First reported 1954
Key publication · disorder Fistula labii inferioris congenita and its association with cleft lip and palate.American journal of human genetics · 1954
Manually curated
Association Review

In brief

The association between CFAP57 (Cilia And Flagella Associated Protein 57) and Van Der Woude Syndrome 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 8
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
CFAP57

The gene

1 source summary

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

Request access
04
Van Der Woude Syndrome 1

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

5 clinical features

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

Request access
06
Provenance

References & sources

4 references

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

Request access