Genopathy
Gene-Disorder Association · Article
Gene
OPA1
OPA1 Mitochondrial Dynamin Like GTPase
Disorder
Leber Hereditary Optic Neuropathy, Modifier Of
First reported 2009
Supporting publications 3
Key publication · gene–disorder Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.Molecular vision · 2009
Key publication · disorder Molybdenum deficiency in Dunkirk silty clay loam.Science (New York, N.Y.) · 1950
Manually curated
Association Review

In brief

The association between OPA1 (OPA1 Mitochondrial Dynamin Like GTPase) and Leber Hereditary Optic Neuropathy, Modifier Of is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 28
Compounds 0
Trials 0
Publications 3
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
OPA1

The gene

1 source summary

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

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04
Leber Hereditary Optic Neuropathy, Modifier Of

The disorder

14 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

26 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
Literature

Reading

3 publications

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

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08
Provenance

References & sources

10 references

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

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