Genopathy
Gene-Disorder Association · Article
Gene
DBT
Dihydrolipoamide Branched Chain Transacylase E2
Disorder
Maple Syrup Urine Disease, Type Ii
First reported 1981
Supporting publications 10
Key publication · disorder [Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde · 1981
Manually curated
Association Review

In brief

The association between DBT (Dihydrolipoamide Branched Chain Transacylase E2) and Maple Syrup Urine Disease, Type Ii 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 causative variation.

Sources 4
Clinical variants 48
Symptoms 11
Compounds 0
Trials 0
Publications 10
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

4 sources

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

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03
DBT

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, Type Ii

The disorder

7 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

3 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

48 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

10 publications

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

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09
Provenance

References & sources

14 references

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

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