Genopathy
Gene-Disorder Association · Article
Gene
LTBP4
Latent Transforming Growth Factor Beta Binding Protein 4
Disorder
Primary Ciliary Dyskinesia
First reported 1950
Key publication · disorder The Kartagener syndrome.The Journal of the Medical Society of New Jersey · 1950
Manually curated
Association Review

In brief

The association between LTBP4 (Latent Transforming Growth Factor Beta Binding Protein 4) and Primary Ciliary Dyskinesia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 48
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
LTBP4

The gene

1 source summary

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

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04
Primary Ciliary Dyskinesia

The disorder

10 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

46 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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