Genopathy
Gene-Disorder Association · Article
Gene
STT3B
STT3 Oligosaccharyltransferase Complex Catalytic Subunit B
Disorder
Congenital Disorder Of Glycosylation, Type Ix
First reported 2000
Supporting publications 2
Key publication · disorder Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.The Journal of pediatrics · 2000
Manually curated
Association Review

In brief

The association between STT3B (STT3 Oligosaccharyltransferase Complex Catalytic Subunit B) and Congenital Disorder Of Glycosylation, Type Ix is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 91
Symptoms 34
Compounds 0
Trials 0
Publications 2
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

4 sources

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

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03
STT3B

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 Ix

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

18 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

91 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

2 publications

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

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09
Provenance

References & sources

9 references

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

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