Genopathy
Gene-Disorder Association · Article
Gene
PLEKHM1
Pleckstrin Homology And RUN Domain Containing M1
Disorder
Osteopathia Striata With Cranial Sclerosis
First reported 1959
Key publication · disorder Hyperostosis generalisata with striations of bones.The British journal of radiology · 1959
Manually curated
Association Review

In brief

The association between PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1) and Osteopathia Striata With Cranial Sclerosis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 158
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
PLEKHM1

The gene

1 source summary

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

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04
Osteopathia Striata With Cranial Sclerosis

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

99 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

7 references

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

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