Genopathy
Gene-Disorder Association · Article
Gene
BSCL2
BSCL2 Lipid Droplet Biogenesis Associated, Seipin
Disorder
Encephalopathy, Progressive, With Or Without Lipodystrophy
First reported 1982
Supporting publications 2
Key publication · disorder Combined effect of prophylactic lymphadenectomy and long term combination chemotherapy for curatively resected carcinoma of the stomach.The Japanese journal of surgery · 1982
Manually curated
Association Review

In brief

The association between BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) and Encephalopathy, Progressive, With Or Without Lipodystrophy is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 3
Clinical variants 105
Symptoms 61
Compounds 0
Trials 0
Publications 2
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
BSCL2

The gene

1 source summary

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

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04
Encephalopathy, Progressive, With Or Without Lipodystrophy

The disorder

9 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

42 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

105 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

2 publications

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

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09
Provenance

References & sources

9 references

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

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