Genopathy
Gene-Disorder Association · Article
Gene
ACVR2A
Activin A Receptor Type 2A
Disorder
2q23.1 Microduplication Syndrome
First reported 1967
Supporting publications 1
Key publication · disorder [Individual splints in the treatment of mand- ibular fractures)].Acta chirurgica Italica · 1967
Association Review

In brief

The association between ACVR2A (Activin A Receptor Type 2A) and 2q23.1 Microduplication Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

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.

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02
Provenance

Evidence and sources

1 source

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

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03
ACVR2A

The gene

1 source summary

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

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04
2q23.1 Microduplication Syndrome

The disorder

4 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

37 clinical features

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

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

6 references

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

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