Genopathy
Gene-Disorder Association · Article
Gene
RMRP
RNA Component Of Mitochondrial RNA Processing Endoribonuclease
Disorder
Cartilage-Hair Hypoplasia
First reported 1993
Supporting publications 45
Key publication · gene–disorder Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.European journal of pediatrics · 1993
Key publication · disorder DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.Bulletin of the Johns Hopkins Hospital · 1965
Manually curated
Association Review

In brief

The association between RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease) and Cartilage-Hair Hypoplasia is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 336
Symptoms 137
Compounds 0
Trials 0
Publications 45
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
RMRP

The gene

1 source summary

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

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04
Cartilage-Hair Hypoplasia

The disorder

11 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

107 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

336 clinical variants

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

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07
Genomic context

Regulatory context

3 regulatory elements

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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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

45 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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