Genopathy
Gene-Disorder Association · Article
Gene
HPS6
HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3
Disorder
Hermansky-Pudlak Syndrome 1
First reported 2016
Supporting publications 12
Key publication · gene–disorder Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.Molecular genetics and metabolism · 2016
Key publication · disorder Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.Blood · 1959
Manually curated
Association Review

In brief

The association between HPS6 (HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3) and Hermansky-Pudlak Syndrome 1 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 20
Symptoms 45
Compounds 0
Trials 0
Publications 12
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
HPS6

The gene

1 source summary

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

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04
Hermansky-Pudlak Syndrome 1

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

24 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

20 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

12 publications

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

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09
Provenance

References & sources

14 references

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

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