Genopathy
Gene-Disorder Association · Article
Gene
MYLK3
Myosin Light Chain Kinase 3
Disorder
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
First reported 2006
Key publication · disorder Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.The Journal of investigative dermatology · 2006
Manually curated
Association Review

In brief

The association between MYLK3 (Myosin Light Chain Kinase 3) and Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 43
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
MYLK3

The gene

2 source summaries

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

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04
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis

The disorder

13 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
Provenance

References & sources

6 references

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

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