Genopathy
Gene-Disorder Association · Article
Gene
RAC3
Rac Family Small GTPase 3
Disorder
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
First reported 1976
Supporting publications 2
Key publication · disorder Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".European journal of pediatrics · 1976
Manually curated
Association Review

In brief

The association between RAC3 (Rac Family Small GTPase 3) and Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 26
Symptoms 50
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

4 sources

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

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03
RAC3

The gene

2 source summaries

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

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04
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

26 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

26 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

2 publications

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

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09
Provenance

References & sources

10 references

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

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