Genopathy
Gene-Disorder Association · Article
Gene
D2HGDH
D-2-Hydroxyglutarate Dehydrogenase
Disorder
D-2-Hydroxyglutaric Aciduria 1
First reported 2005
Supporting publications 10
Key publication · gene–disorder Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.American journal of human genetics · 2005
Key publication · disorder D-2-hydroxyglutaric aciduria: case report and biochemical studies.Journal of inherited metabolic disease · 1980
Manually curated
Association Review

In brief

The association between D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) and D-2-Hydroxyglutaric Aciduria 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 333
Symptoms 45
Compounds 0
Trials 0
Publications 10
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

3 sources

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

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03
D2HGDH

The gene

1 source summary

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

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04
D-2-Hydroxyglutaric Aciduria 1

The disorder

10 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

28 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

333 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

10 publications

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

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09
Provenance

References & sources

14 references

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

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