Genopathy
Gene-Disorder Association · Article
Gene
LTBP1
Latent Transforming Growth Factor Beta Binding Protein 1
Disorder
Cutis Laxa, Autosomal Recessive, Type Iie
First reported 2009
Supporting publications 1
Key publication · disorder Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.Human molecular genetics · 2009
Manually curated
Association Review

In brief

The association between LTBP1 (Latent Transforming Growth Factor Beta Binding Protein 1) and Cutis Laxa, Autosomal Recessive, Type Iie is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 7
Symptoms 82
Compounds 0
Trials 0
Publications 1
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

3 sources

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

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03
LTBP1

The gene

1 source summary

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

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04
Cutis Laxa, Autosomal Recessive, Type Iie

The disorder

8 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
ClinVar and variant evidence

Genetic basis

7 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

1 publication

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

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09
Provenance

References & sources

7 references

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

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