Genopathy
Gene-Disorder Association · Article
Gene
MPZ
Myelin Protein Zero
Disorder
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b
First reported 1993
Supporting publications 59
Key publication · gene–disorder Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.Nature genetics · 1993
Key publication · disorder Severe sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type).A.M.A. archives of neurology and psychiatry · 1952
Manually curated
Association Review

In brief

The association between MPZ (Myelin Protein Zero) and Charcot-Marie-Tooth Disease, Demyelinating, Type 1b is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 108
Symptoms 47
Compounds 0
Trials 0
Publications 59
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
MPZ

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

22 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

108 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

59 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

14 references

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

Request access