Genopathy
Gene-Disorder Association · Article
Gene
ATOH7
Atonal BHLH Transcription Factor 7
Disorder
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
First reported 1998
Supporting publications 6
Key publication · gene–disorder High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population.American journal of medical genetics · 1998
Key publication · disorder [Familial inflammatory pseudoglioma with consanguineous parents].Journal de genetique humaine · 1954
Manually curated
Association Review

In brief

The association between ATOH7 (Atonal BHLH Transcription Factor 7) and Persistent Hyperplastic Primary Vitreous, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 5
Symptoms 39
Compounds 0
Trials 0
Publications 6
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
ATOH7

The gene

1 source summary

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

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04
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

The disorder

7 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

20 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

5 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

6 publications

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

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09
Provenance

References & sources

12 references

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

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