Genopathy
Gene-Disorder Association · Article
Gene
HPS4
HPS4 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2
Disorder
Albinism
First reported 1950
Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950
Manually curated
Association Review

In brief

The association between HPS4 (HPS4 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2) and Albinism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
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

1 source

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

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03
HPS4

The gene

1 source summary

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

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04
Albinism

The disorder

1 database identifier

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

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05
Provenance

References & sources

2 references

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

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