Genopathy
Gene-Disorder Association · Article
Gene
PHOX2A
Paired Like Homeobox 2A
Disorder
Congenital Fibrosis Of The Extraocular Muscles
First reported 2002
Supporting publications 3
Key publication · gene–disorder CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.BMC genetics · 2002
Key publication · disorder Hereditary congenital ophthalmoplegia.Transactions of the American Ophthalmological Society · 1955
Manually curated
Association Review

In brief

The association between PHOX2A (Paired Like Homeobox 2A) and Congenital Fibrosis Of The Extraocular Muscles is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 37
Compounds 0
Trials 0
Publications 3
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
PHOX2A

The gene

1 source summary

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

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04
Congenital Fibrosis Of The Extraocular Muscles

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

36 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

8 references

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

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