Genopathy
Gene-Disorder Association · Article
Gene
DLD
Dihydrolipoamide Dehydrogenase
Disorder
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
First reported 1993
Supporting publications 41
Key publication · gene–disorder Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.Proceedings of the National Academy of Sciences of the United States of America · 1993
Key publication · disorder Glucose-6-phosphatase of the liver in glycogen storage disease.The Journal of biological chemistry · 1952
Manually curated
Association Review

In brief

The association between DLD (Dihydrolipoamide Dehydrogenase) and Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 579
Symptoms 31
Compounds 0
Trials 0
Publications 41
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
DLD

The gene

1 source summary

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

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04
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase

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

15 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

579 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

41 publications

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

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09
Provenance

References & sources

13 references

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

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