Genopathy
Gene-Disorder Association · Article
Gene
ACTA1
Actin Alpha 1, Skeletal Muscle
Disorder
Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction
First reported 1996
Key publication · disorder Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.The Journal of clinical investigation · 1996
Manually curated
Association Review

In brief

The association between ACTA1 (Actin Alpha 1, Skeletal Muscle) and Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 18
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.

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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
ACTA1

The gene

2 source summaries

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

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04
Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction

The disorder

14 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

9 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

5 references

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

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