Genopathy
Gene-Disorder Association · Article
Gene
RUNX2
RUNX Family Transcription Factor 2
Disorder
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
First reported 2018
Supporting publications 2
Key publication · gene–disorder A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.European journal of human genetics : EJHG · 2018
Key publication · disorder Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.American journal of medical genetics · 1982
Manually curated
Association Review

In brief

The association between RUNX2 (RUNX Family Transcription Factor 2) and Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 16
Symptoms 24
Compounds 0
Trials 0
Publications 2
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
RUNX2

The gene

1 source summary

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

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04
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly

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

14 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

16 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

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 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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