Genopathy
Gene-Disorder Association · Article
Gene
VMA22
Vacuolar ATPase Assembly Factor VMA22
Disorder
Congenital Disorder Of Glycosylation, Type Iio
First reported 2018
Supporting publications 3
Key publication · gene–disorder CCDC115-CDG: A new rare and misleading inherited cause of liver disease.Molecular genetics and metabolism · 2018
Key publication · disorder Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.Biochimica et biophysica acta · 2011
Manually curated
Association Review

In brief

The association between VMA22 (Vacuolar ATPase Assembly Factor VMA22) and Congenital Disorder Of Glycosylation, Type Iio is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 7
Symptoms 48
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

5 sources

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

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03
VMA22

The gene

1 source summary

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

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04
Congenital Disorder Of Glycosylation, Type Iio

The disorder

10 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

23 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

7 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

11 references

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

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