Genopathy
Gene-Disorder Association · Article
Gene
LTBP2
Latent Transforming Growth Factor Beta Binding Protein 2
Disorder
Glaucoma 3, Primary Congenital, D
First reported 1989
Supporting publications 4
Key publication · disorder Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance.Developments in ophthalmology · 1989
Manually curated
Association Review

In brief

The association between LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2) and Glaucoma 3, Primary Congenital, D is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 237
Symptoms 4
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.

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
LTBP2

The gene

1 source summary

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

Request access
04
Glaucoma 3, Primary Congenital, D

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

4 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

237 clinical variants

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

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

4 publications

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

Request access
10
Provenance

References & sources

10 references

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

Request access