Genopathy
Gene-Disorder Association · Article
Gene
BLOC1S3
Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3
Disorder
Sitosterolemia
First reported 1974
Key publication · disorder Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters.The Journal of clinical investigation · 1974
Manually curated
Association Review

In brief

The association between BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3) and Sitosterolemia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 14
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
BLOC1S3

The gene

1 source summary

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

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04
Sitosterolemia

The disorder

10 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

13 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

6 references

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

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