Genopathy
Gene-Disorder Association · Article
Gene
TGFB3
Transforming Growth Factor Beta 3
Disorder
Loeys-Dietz Syndrome 5
First reported 2015
Supporting publications 17
Key publication · gene–disorder Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.Molecular and cellular probes · 2015
Key publication · disorder [Comparison of results between the Robinson method of drainage and marsupialization].Acta chirurgica Iugoslavica · 1989
Manually curated
Association Review

In brief

The association between TGFB3 (Transforming Growth Factor Beta 3) and Loeys-Dietz Syndrome 5 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 459
Symptoms 110
Compounds 0
Trials 0
Publications 17
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
TGFB3

The gene

1 source summary

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

Request access
04
Loeys-Dietz Syndrome 5

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

57 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

459 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

17 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access