Genopathy
Gene-Disorder Association · Article
Gene
TRPV4
Transient Receptor Potential Cation Channel Subfamily V Member 4
Disorder
Charcot-Marie-Tooth Disease
First reported 2010
Supporting publications 1
Key publication · gene–disorder Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.Nature genetics · 2010
Key publication · disorder Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study.The Journal of bone and joint surgery. American volume · 1950
Manually curated
Association Review

In brief

The association between TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) and Charcot-Marie-Tooth Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 122
Symptoms 10
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

2 sources

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

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03
TRPV4

The gene

2 source summaries

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

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04
Charcot-Marie-Tooth Disease

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
ClinVar and variant evidence

Genetic basis

122 clinical variants

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

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06
Literature

Reading

1 publication

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

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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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