Genopathy
Gene-Disorder Association · Article
Gene
HPS1
HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1
Disorder
Hermansky-Pudlak Syndrome Due To Bloc-3 Deficiency
First reported 1992
Key publication · disorder [Hermansky-Pudlak syndrome with pulmonary fibrosis in two brothers].Der Pathologe · 1992
Manually curated
Association Review

In brief

The association between HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1) and Hermansky-Pudlak Syndrome Due To Bloc-3 Deficiency is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 1
Symptoms 0
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

2 sources

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

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03
HPS1

The gene

1 source summary

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

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04
Hermansky-Pudlak Syndrome Due To Bloc-3 Deficiency

The disorder

5 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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06
Provenance

References & sources

4 references

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

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