Genopathy
Gene-Disorder Association · Article
Gene
TRPV1
Transient Receptor Potential Cation Channel Subfamily V Member 1
Disorder
Cystinosis, Nephropathic
First reported 1958
Key publication · disorder The de Toni-Fanconi syndrome with cystinosis; clinical and metabolic study of two cases in a family and a critical review on the nature of the syndrome.A.M.A. journal of diseases of children · 1958
Manually curated
Association Review

In brief

The association between TRPV1 (Transient Receptor Potential Cation Channel Subfamily V Member 1) and Cystinosis, Nephropathic is reported, with clinical genetic testing available.

Sources 1
Clinical variants 2
Symptoms 98
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
TRPV1

The gene

2 source summaries

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

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04
Cystinosis, Nephropathic

The disorder

9 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

70 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

2 clinical variants

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

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07
Provenance

References & sources

7 references

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

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