Genopathy
Gene-Disorder Association · Article
Gene
AP3B1
Adaptor Related Protein Complex 3 Subunit Beta 1
Disorder
Hermansky-Pudlak Syndrome
First reported 1998
Supporting publications 9
Key publication · gene–disorder Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.The Journal of investigative dermatology · 1998
Key publication · disorder Studies of platelets in a variant of the Hermansky-Pudlak syndrome.The American journal of pathology · 1971
Manually curated
Association Review

In brief

The association between AP3B1 (Adaptor Related Protein Complex 3 Subunit Beta 1) and Hermansky-Pudlak Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 22
Symptoms 40
Compounds 0
Trials 0
Publications 9
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

2 sources

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

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03
AP3B1

The gene

1 source summary

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

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04
Hermansky-Pudlak Syndrome

The disorder

11 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

39 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

22 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

9 publications

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

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09
Provenance

References & sources

15 references

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

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