Genopathy
Gene-Disorder Association · Article
Gene
RHOA
Ras Homolog Family Member A
Disorder
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
First reported 2019
Supporting publications 1
Key publication · gene–disorder Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nature genetics · 2019
Manually curated
Association Review

In brief

The association between RHOA (Ras Homolog Family Member A) and Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 4
Symptoms 63
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.

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02
Provenance

Evidence and sources

3 sources

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

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03
RHOA

The gene

1 source summary

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

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04
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies

The disorder

5 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

30 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

4 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

1 publication

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

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09
Provenance

References & sources

6 references

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

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