Genopathy
Gene-Disorder Association · Article
Gene
FTH1
Ferritin Heavy Chain 1
Disorder
Macular Dystrophy, Vitelliform, 2
First reported 1951
Key publication · disorder Peculiar macular lesions with unaccountably good vision.A.M.A. archives of ophthalmology · 1951
Manually curated
Association Review

In brief

The association between FTH1 (Ferritin Heavy Chain 1) and Macular Dystrophy, Vitelliform, 2 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 25
Symptoms 18
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
FTH1

The gene

1 source summary

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

Request access
04
Macular Dystrophy, Vitelliform, 2

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

10 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

25 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access