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Autosomal dominant Charcot-Marie-Tooth…

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Autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:64746Clinical group

Also called Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2 · Hereditary motor and sensory neuropathy type 2

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Prevalence
1-5 / 10 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

AARS1ATP1A1DGAT2DHTKD1DNM2DYNC1H1GARS1GDAP1HSPB1HSPB8KIF1BKIF5AMARS1MFN2MPZNEFLRAB7ATFGTRPV4

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Autosomal dominant Charcot-Marie-Tooth disease type 2A1Autosomal dominant Charcot-Marie-Tooth disease type 2A2Autosomal dominant Charcot-Marie-Tooth disease type 2BAutosomal dominant Charcot-Marie-Tooth disease type 2CAutosomal dominant Charcot-Marie-Tooth disease type 2DAutosomal dominant Charcot-Marie-Tooth disease type 2DDAutosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutationAutosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutationAutosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutationAutosomal dominant Charcot-Marie-Tooth disease type 2EAutosomal dominant Charcot-Marie-Tooth disease type 2FAutosomal dominant Charcot-Marie-Tooth disease type 2IAutosomal dominant Charcot-Marie-Tooth disease type 2JAutosomal dominant Charcot-Marie-Tooth disease type 2KAutosomal dominant Charcot-Marie-Tooth disease type 2LAutosomal dominant Charcot-Marie-Tooth disease type 2MAutosomal dominant Charcot-Marie-Tooth disease type 2NAutosomal dominant Charcot-Marie-Tooth disease type 2OAutosomal dominant Charcot-Marie-Tooth disease type 2QAutosomal dominant Charcot-Marie-Tooth disease type 2U

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 12431MONDO 0018993MONDO 18993UMLS C5548211

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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