Genopathy
Gene-Disorder Association · Article
Gene
HPS6
HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3
Disorder
Hermansky-Pudlak Syndrome 6
First reported 2006
Supporting publications 4
Key publication · gene–disorder A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.Human mutation · 2006
Key publication · disorder Characterization of a thrombopathy (type delta storage pool disease) affecting a pig colony.Nouvelle revue francaise d'hematologie · 1992
Manually curated
Association Review

In brief

The association between HPS6 (HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3) and Hermansky-Pudlak Syndrome 6 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 107
Symptoms 55
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
HPS6

The gene

1 source summary

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

Request access
04
Hermansky-Pudlak Syndrome 6

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

34 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

107 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

4 publications

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

Request access
09
Provenance

References & sources

10 references

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

Request access