Genopathy
Gene-Disorder Association · Article
Gene
DLAT
Dihydrolipoamide S-Acetyltransferase
Disorder
Pyruvate Dehydrogenase E2 Deficiency
First reported 2005
Supporting publications 6
Key publication · gene–disorder Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.Annals of neurology · 2005
Key publication · disorder Genetics of the alpha-ketoglutarate dehydrogenase complex of Bacillus subtilis.Journal of bacteriology · 1978
Manually curated
Association Review

In brief

The association between DLAT (Dihydrolipoamide S-Acetyltransferase) and Pyruvate Dehydrogenase E2 Deficiency is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 212
Symptoms 72
Compounds 0
Trials 0
Publications 6
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

4 sources

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

Request access
03
DLAT

The gene

1 source summary

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

Request access
04
Pyruvate Dehydrogenase E2 Deficiency

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

54 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

212 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

6 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access