Genopathy
Gene-Disorder Association · Article
Gene
PDP1
Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1
Disorder
Mitochondrial Disease
First reported 2007
Key publication · gene–disorder Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.Clinical chemistry · 2007
Key publication · disorder Male sterility due to centriolar-mitochondrial disease of the spermatozoa.The Journal of urology · 1950
Manually curated
Association Review

In brief

The association between PDP1 (Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1) and Mitochondrial Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
PDP1

The gene

1 source summary

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

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04
Mitochondrial Disease

The disorder

4 database identifiers

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

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05
Provenance

References & sources

2 references

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

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