Genopathy
Gene-Disorder Association · Article
Gene
BCHE
Butyrylcholinesterase
Disorder
Butyrylcholinesterase Deficiency
First reported 1991
Supporting publications 60
Key publication · gene–disorder Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition.Proceedings of the National Academy of Sciences of the United States of America · 1991
Key publication · disorder Suxamethonium sensitivity in health and disease; a clinical evaluation of pseudo-cholinesterase levels.British medical journal · 1954
Manually curated
Association Review

In brief

The association between BCHE (Butyrylcholinesterase) and Butyrylcholinesterase Deficiency is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, a causative germline mutation, and a susceptibility locus.

Sources 5
Clinical variants 119
Symptoms 14
Compounds 0
Trials 0
Publications 60
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

5 sources

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

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03
BCHE

The gene

2 source summaries

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

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04
Butyrylcholinesterase Deficiency

The disorder

20 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

10 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

119 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

60 publications

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

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09
Provenance

References & sources

17 references

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

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