Genopathy
Gene-Disorder Association · Article
Gene
ITPR3
Inositol 1,4,5-Trisphosphate Receptor Type 3
Disorder
Charcot-Marie-Tooth Disease
First reported 1950
Key publication · disorder Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study.The Journal of bone and joint surgery. American volume · 1950
Manually curated
Association Review

In brief

The association between ITPR3 (Inositol 1,4,5-Trisphosphate Receptor Type 3) and Charcot-Marie-Tooth Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 10
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
ITPR3

The gene

2 source summaries

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

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04
Charcot-Marie-Tooth Disease

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Provenance

References & sources

4 references

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

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