Genopathy
Gene-Disorder Association · Article
Gene
RSPH1
Radial Spoke Head Component 1
Disorder
Ciliary Dyskinesia, Primary, 24
First reported 2014
Supporting publications 4
Key publication · gene–disorder Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.American journal of respiratory and critical care medicine · 2014
Key publication · disorder Clearance in smaller airways of inhaled 6-microm particles in subjects with immotile-cilia syndrome.Experimental lung research · 1995
Manually curated
Association Review

In brief

The association between RSPH1 (Radial Spoke Head Component 1) and Ciliary Dyskinesia, Primary, 24 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 26
Symptoms 20
Compounds 0
Trials 0
Publications 4
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

4 sources

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

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03
RSPH1

The gene

1 source summary

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

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04
Ciliary Dyskinesia, Primary, 24

The disorder

9 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

11 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

26 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

4 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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