Genopathy
Gene-Disorder Association · Article
Gene
TGFB1
Transforming Growth Factor Beta 1
Disorder
Camurati-Engelmann Disease 1
First reported 2000
Supporting publications 11
Key publication · gene–disorder Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.Nature genetics · 2000
Key publication · disorder Progressive diaphyseal dysplasia (Engelmann's disease).The Journal of pediatrics · 1951
Manually curated
Association Review

In brief

The association between TGFB1 (Transforming Growth Factor Beta 1) and Camurati-Engelmann Disease 1 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 16
Symptoms 43
Compounds 0
Trials 0
Publications 11
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

3 sources

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

Request access
03
TGFB1

The gene

1 source summary

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

Request access
04
Camurati-Engelmann Disease 1

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

28 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

16 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

11 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access