Genopathy
Gene-Disorder Association · Article
Gene
FTL
Ferritin Light Chain
Disorder
Hyperferritinemia With Or Without Cataract
First reported 1995
Supporting publications 44
Key publication · gene–disorder Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")Blood · 1995
Key publication · disorder The vasopressin receptor antagonist dPTyr (Me) AVP does not prevent stress-induced ACTH and corticosterone release.Nature · 1983
Manually curated
Association Review

In brief

The association between FTL (Ferritin Light Chain) and Hyperferritinemia With Or Without Cataract is well established and manually curated, with its 6 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 6
Clinical variants 173
Symptoms 18
Compounds 0
Trials 0
Publications 44
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

6 sources

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

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03
FTL

The gene

1 source summary

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

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04
Hyperferritinemia With Or Without Cataract

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

9 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

173 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

19 regulatory elements

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

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08
Mechanism overlap

Shared mechanisms

1 shared pathway

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

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09
Literature

Reading

44 publications

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

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10
Provenance

References & sources

22 references

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

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