Genopathy
Gene-Disorder Association · Article
Gene
TSHR
Thyroid Stimulating Hormone Receptor
Disorder
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
First reported 1982
Supporting publications 18
Key publication · disorder Familial hyperthyroidism without evidence of autoimmunity.Acta endocrinologica · 1982
Manually curated
Association Review

In brief

The association between TSHR (Thyroid Stimulating Hormone Receptor) and Familial Hyperthyroidism Due To Mutations In Tsh Receptor is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 127
Symptoms 20
Compounds 0
Trials 0
Publications 18
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
TSHR

The gene

1 source summary

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

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04
Familial Hyperthyroidism Due To Mutations In Tsh Receptor

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

17 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

127 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

18 publications

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

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10
Provenance

References & sources

16 references

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

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