CMT2H and Charcot-Marie-Tooth Disease, Axonal, Type 2h: Association Evidence

Gene-Disorder Association · Article

Gene

CMT2H

Charcot-Marie-Tooth Disease, Axonal, Type 2H

Disorder

Charcot-Marie-Tooth Disease, Axonal, Type 2h

First reported 2000

Key publication · disorder Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.Human genetics · 2000

Manually curated

Association Review

In brief

The association between CMT2H (Charcot-Marie-Tooth Disease, Axonal, Type 2H) and Charcot-Marie-Tooth Disease, Axonal, Type 2h is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1

Clinical variants 0

Symptoms 24

Compounds 0

Trials 0

Publications 0

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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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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Charcot-Marie-Tooth Disease, Axonal, Type 2h

The disorder

10 database identifiers

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

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Phenotype

Clinical features

11 clinical features

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

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Provenance

References & sources

3 references

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

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