Genopathy
Gene-Disorder Association · Article
Gene
TBX4
T-Box Transcription Factor 4
Disorder
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
First reported 2001
Supporting publications 10
Key publication · gene–disorder The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.Journal of medical genetics · 2001
Key publication · disorder Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome.Acta geneticae medicae et gemellologiae · 1970
Manually curated
Association Review

In brief

The association between TBX4 (T-Box Transcription Factor 4) and Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 98
Symptoms 42
Compounds 0
Trials 0
Publications 10
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
TBX4

The gene

1 source summary

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

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04
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

The disorder

13 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

22 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

98 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

10 publications

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

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10
Provenance

References & sources

17 references

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

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