Genopathy
Gene-Disorder Association · Article
Gene
CTNS
Cystinosin, Lysosomal Cystine Transporter
Disorder
Cystinosis, Nephropathic
First reported 1998
Supporting publications 43
Key publication · gene–disorder A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.Nature genetics · 1998
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 CTNS (Cystinosin, Lysosomal Cystine Transporter) and Cystinosis, Nephropathic is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 5
Clinical variants 379
Symptoms 98
Compounds 0
Trials 0
Publications 43
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

5 sources

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

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03
CTNS

The gene

1 source summary

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

379 clinical variants

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

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07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

43 publications

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

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10
Provenance

References & sources

18 references

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

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