Genopathy
Gene-Disorder Association · Article
Gene
BCKDHB
Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta
Disorder
Microphthalmia, Syndromic 5
First reported 2003
Key publication · disorder A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.The British journal of ophthalmology · 2003
Manually curated
Association Review

In brief

The association between BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) and Microphthalmia, Syndromic 5 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 32
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
Microphthalmia, Syndromic 5

The disorder

14 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

17 clinical features

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

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

5 references

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

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