Genopathy
Gene-Disorder Association · Article
Gene
ATP6V0A2
ATPase H+ Transporting V0 Subunit A2
Disorder
Cutis Laxa, Autosomal Recessive, Type Iia
First reported 2012
Supporting publications 3
Key publication · gene–disorder Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.Human genetics · 2012
Key publication · disorder Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip.Acta paediatrica Scandinavica · 1971
Manually curated
Association Review

In brief

The association between ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2) and Cutis Laxa, Autosomal Recessive, Type Iia is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 197
Symptoms 63
Compounds 0
Trials 0
Publications 3
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

2 sources

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

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03
ATP6V0A2

The gene

2 source summaries

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

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04
Cutis Laxa, Autosomal Recessive, Type Iia

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

40 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

197 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

3 publications

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

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09
Provenance

References & sources

8 references

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

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