Charcot-Marie-Tooth disease

General Information (adopted from Orphanet):

Synonyms, Signs: CMT
Charcot-Marie-Tooth hereditary neuropathy
Number of Symptoms 15
OrphanetNr: 166
OMIM Id:
ICD-10: G60.0
UMLs: C0007959
MeSH: D002607
MedDRA: 10034699
Snomed: 50548001

Prevalence, inheritance and age of onset:

Prevalence: 22 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
2
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
3
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
4
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
5
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
6
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
7
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
8
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
9
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
10
 (HPO:0010488) Aplasia/Hypoplasia of the palmar creases Very frequent [Orphanet] 15 / 7739
11
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
12
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
13
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
14
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
15
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: