Genopathy
Gene-Disorder Association · Article
Gene
STT3A
STT3 Oligosaccharyltransferase Complex Catalytic Subunit A
Disorder
Congenital Disorder Of Glycosylation Iw
First reported 2021
Supporting publications 4
Key publication · gene–disorder Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.American journal of human genetics · 2021
Key publication · disorder Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.Human molecular genetics · 2013
Manually curated
Association Review

In brief

The association between STT3A (STT3 Oligosaccharyltransferase Complex Catalytic Subunit A) and Congenital Disorder Of Glycosylation Iw is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 9
Symptoms 13
Compounds 0
Trials 0
Publications 4
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
STT3A

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 Iw

The disorder

6 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

13 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

9 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

4 publications

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

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09
Provenance

References & sources

10 references

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

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