Genopathy
Gene-Disorder Association · Article
Gene
POC1A
POC1 Centriolar Protein A
Disorder
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
First reported 2012
Supporting publications 8
Key publication · gene–disorder Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.American journal of human genetics · 2012
Key publication · disorder Alveolar soft-part sarcomas; structurally characteristic tumors of uncertain histogenesis.Cancer · 1952
Manually curated
Association Review

In brief

The association between POC1A (POC1 Centriolar Protein A) and Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 30
Symptoms 83
Compounds 0
Trials 0
Publications 8
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

5 sources

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

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03
POC1A

The gene

1 source summary

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

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04
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis

The disorder

11 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

47 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

30 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

8 publications

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

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09
Provenance

References & sources

17 references

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

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