Genopathy
Gene-Disorder Association · Article
Gene
ZRS
ZPA Regulatory Sequence
Disorder
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
First reported 2010
Supporting publications 8
Key publication · gene–disorder A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.Human mutation · 2010
Key publication · disorder BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT.The Journal of bone and joint surgery. American volume · 1964
Manually curated
Association Review

In brief

The association between ZRS (ZPA Regulatory Sequence) and Tibia, Hypoplasia Or Aplasia Of, With Polydactyly is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 19
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

2 sources

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

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03
ZRS

The gene

1 source summary

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

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04
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly

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

5 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

4 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

12 references

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

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