Genopathy
Gene-Disorder Association · Article
Gene
CMTD1A
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Disorder
Charcot-Marie-Tooth Disease, Dominant Intermediate A
First reported 1978
Key publication · disorder The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification.Journal de genetique humaine · 1978
Manually curated
Association Review

In brief

The association between CMTD1A (Charcot-Marie-Tooth Disease, Dominant Intermediate A) and Charcot-Marie-Tooth Disease, Dominant Intermediate A is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 23
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
Charcot-Marie-Tooth Disease, Dominant Intermediate A

The disorder

9 database identifiers

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

Request access
04
Phenotype

Clinical features

10 clinical features

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

Request access
05
Provenance

References & sources

4 references

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

Request access