Genopathy
Gene-Disorder Association · Article
Gene
PRSS56
Serine Protease 56
Disorder
Microphthalmia, Isolated 6
First reported 2011
Supporting publications 13
Key publication · gene–disorder Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.American journal of human genetics · 2011
Key publication · disorder [ULTRASONICS DIAGNOSIS OF MICROPHTHALMIA WITHOUT MICROCORNEA, WITH MACROPHAKIA, HIGH HYPERMETROPIA ASSOCIATED WITH TAPETO-RETINAL DEGENERATION, A GLAUCOMATOUS PREDISPOSITION AND DENTAL ANOMALIES (NEW FAMILIAL SYNDROME)].Archives d'ophtalmologie et revue generale d'ophtalmologie · 1965
Manually curated
Association Review

In brief

The association between PRSS56 (Serine Protease 56) and Microphthalmia, Isolated 6 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 96
Symptoms 24
Compounds 0
Trials 0
Publications 13
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

4 sources

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

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03
PRSS56

The gene

1 source summary

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

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04
Microphthalmia, Isolated 6

The disorder

8 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

7 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

96 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

13 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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