Genopathy
Gene-Disorder Association · Article
Gene
GATA3
GATA Binding Protein 3
Disorder
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
First reported 2000
Supporting publications 19
Key publication · gene–disorder GATA3 haplo-insufficiency causes human HDR syndrome.Nature · 2000
Key publication · disorder Familial nephrosis, nerve deafness, and hypoparathyroidism.The Journal of pediatrics · 1977
Manually curated
Association Review

In brief

The association between GATA3 (GATA Binding Protein 3) and Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 206
Symptoms 33
Compounds 0
Trials 0
Publications 19
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

3 sources

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

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03
GATA3

The gene

1 source summary

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

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04
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome

The disorder

6 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

206 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

19 publications

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

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09
Provenance

References & sources

13 references

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

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