Genopathy
Gene-Disorder Association · Article
Gene
FH
Fumarate Hydratase
Disorder
Fumarate Hydratase Deficiency
First reported 1994
Supporting publications 29
Key publication · gene–disorder Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.The Journal of clinical investigation · 1994
Key publication · disorder Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).Annals of neurology · 1979
Manually curated
Association Review

In brief

The association between FH (Fumarate Hydratase) and Fumarate Hydratase Deficiency is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 329
Symptoms 1
Compounds 0
Trials 0
Publications 29
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
FH

The gene

1 source summary

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

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04
Fumarate Hydratase Deficiency

The disorder

2 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

329 clinical variants

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

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06
Literature

Reading

29 publications

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

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07
Provenance

References & sources

11 references

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

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