Genopathy
Gene-Disorder Association · Article
Gene
BCKDHB
Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta
Disorder
Hereditary Pulmonary Alveolar Proteinosis
First reported 1992
Key publication · disorder Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support.The Journal of pediatrics · 1992
Manually curated
Association Review

In brief

The association between BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) and Hereditary Pulmonary Alveolar Proteinosis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 18
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
BCKDHB

The gene

1 source summary

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

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04
Hereditary Pulmonary Alveolar Proteinosis

The disorder

6 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

15 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

5 references

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

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