Genopathy
Gene-Disorder Association · Article
Gene
TRPV4
Transient Receptor Potential Cation Channel Subfamily V Member 4
Disorder
Schwartz-Jampel Syndrome, Type 1
First reported 1962
Key publication · disorder Congenital blepharophimosis associated with a unique generalized myopathy.Archives of ophthalmology (Chicago, Ill. : 1960) · 1962
Manually curated
Association Review

In brief

The association between TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) and Schwartz-Jampel Syndrome, Type 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 159
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
TRPV4

The gene

2 source summaries

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

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04
Schwartz-Jampel Syndrome, Type 1

The disorder

12 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

132 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

8 references

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

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