Genopathy
Gene-Disorder Association · Article
Gene
PPM1K
Protein Phosphatase, Mg2+/Mn2+ Dependent 1K
Disorder
Maple Syrup Urine Disease, Mild Variant
First reported 2013
Supporting publications 1
Key publication · gene–disorder A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.Human mutation · 2013
Key publication · disorder Mild variant of maple syrup urine disease.European journal of pediatrics · 1976
Manually curated
Association Review

In brief

The association between PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K) and Maple Syrup Urine Disease, Mild Variant is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 99
Symptoms 4
Compounds 0
Trials 0
Publications 1
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
PPM1K

The gene

1 source summary

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

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04
Maple Syrup Urine Disease, Mild Variant

The disorder

8 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

2 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

99 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

1 publication

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

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09
Provenance

References & sources

6 references

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

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