Genopathy
Gene-Disorder Association · Article
Gene
FGFR3
Fibroblast Growth Factor Receptor 3
Disorder
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
First reported 2006
Supporting publications 3
Key publication · gene–disorder A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.American journal of human genetics · 2006
Key publication · disorder Fibroblast growth factor receptor 3 is a negative regulator of bone growth.Cell · 1996
Manually curated
Association Review

In brief

The association between FGFR3 (Fibroblast Growth Factor Receptor 3) and Camptodactyly, Tall Stature, And Hearing Loss 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 44
Symptoms 24
Compounds 0
Trials 0
Publications 3
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
FGFR3

The gene

3 source summaries

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

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04
Camptodactyly, Tall Stature, And Hearing Loss Syndrome

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

15 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

44 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

3 publications

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

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09
Provenance

References & sources

10 references

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

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