Charcot-Marie-Tooth disease type 1E

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E
CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT
CMT1E
Charcot-Marie-Tooth disease - deafness
Number of Symptoms 22
OrphanetNr: 90658
OMIM Id: 118300
ICD-10: G60.0
UMLs: C1861669
C2931686
MeSH: C537986
C538078
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Charcot-Marie-Tooth disease type 1
 -Rare genetic disease
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
 (HPO:0003376) Steppage gait 41 / 7739
5
 (HPO:0001265) Hyporeflexia 208 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0002936) Distal sensory impairment 96 / 7739
8
 (HPO:0001288) Gait disturbance 318 / 7739
9
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
10
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
11
 (HPO:0001171) Split hand 72 / 7739
12
 (HPO:0001765) Hammertoe 63 / 7739
13
 (HPO:0001760) Abnormality of the foot 96 / 7739
14
 (HPO:0001761) Pes cavus 225 / 7739
15
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (HPO:0002460) Distal muscle weakness 122 / 7739
18
 (HPO:0011463) Childhood onset 65 / 7739
19
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
20
 (HPO:0003621) Juvenile onset 105 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Poor balance 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pyeritz (1979) examined 3 affected members of 2 generations of a western Maryland kindred, and Gummerson (1981) examined several members of a southern Pennsylvania kindred. In both pedigrees, classic CMT was always associated with sensorineural deafness. No instance ...
Molecular genetics OMIM In the family originally reported by Kousseff et al. (1982), Kovach et al. (1999) identified an ala67-to-pro mutation in the PMP22 gene (601097.0010).

Deafness appears to be a rare association with CMT in those cases in ...