Genopathy
Gene-Disorder Association · Article
Gene
MIA3
MIA SH3 Domain ER Export Factor 3
Disorder
Amelogenesis Imperfecta, Type Ik
First reported 2020
Key publication · disorder A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.Human molecular genetics · 2020
Manually curated
Association Review

In brief

The association between MIA3 (MIA SH3 Domain ER Export Factor 3) and Amelogenesis Imperfecta, Type Ik is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 7
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
MIA3

The gene

1 source summary

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

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04
Amelogenesis Imperfecta, Type Ik

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

2 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

4 references

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

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