Genopathy
Gene-Disorder Association · Article
Gene
PDHA1
Pyruvate Dehydrogenase E1 Subunit Alpha 1
Disorder
Pyruvate Dehydrogenase E1-Alpha Deficiency
First reported 1987
Supporting publications 80
Key publication · gene–disorder The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.The Journal of biological chemistry · 1987
Key publication · disorder Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria.Pediatrics · 1969
Manually curated
Association Review

In brief

The association between PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1) and Pyruvate Dehydrogenase E1-Alpha Deficiency is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 498
Symptoms 131
Compounds 0
Trials 0
Publications 80
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

5 sources

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

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03
PDHA1

The gene

1 source summary

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

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04
Pyruvate Dehydrogenase E1-Alpha Deficiency

The disorder

18 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

96 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

498 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

80 publications

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

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09
Provenance

References & sources

17 references

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

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