Genopathy
Gene-Disorder Association · Article
Gene
LTBP2
Latent Transforming Growth Factor Beta Binding Protein 2
Disorder
Acromesomelic Dysplasia 2a
First reported 1964
Key publication · disorder A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.Acta genetica et statistica medica · 1964
Manually curated
Association Review

In brief

The association between LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2) and Acromesomelic Dysplasia 2a is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 55
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
LTBP2

The gene

1 source summary

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

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04
Acromesomelic Dysplasia 2a

The disorder

11 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

33 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

6 references

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

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