X-linked Charcot-Marie-Tooth disease type 6

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
CMT6X
CMTX6
Number of Symptoms 15
OrphanetNr: 352675
OMIM Id: 300905
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked Charcot-Marie-Tooth disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
2
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
4
 (HPO:0002378) Hand tremor 9 / 7739
5
 (HPO:0003376) Steppage gait 41 / 7739
6
 (HPO:0001761) Pes cavus 225 / 7739
7
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
8
 (HPO:0003677) Slow progression 134 / 7739
9
 (OMIM) Axonal sensorimotor polyneuropathy 1 / 7739
10
 (OMIM) Ankle hyporeflexia 1 / 7739
11
 (OMIM) Distal sensory impairment, predominantly lower limbs 1 / 7739
12
 (OMIM) Decreased auditory brainstem responses 1 / 7739
13
 (OMIM) Distal muscle weakness and atrophy, predominantly lower limbs, due to peripheral neuropathy 1 / 7739
14
 (OMIM) Hand muscle weakness 2 / 7739
15
 (HPO:0030237) Hand muscle weakness 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kennerson et al. (2013) reported a large 3-generation kindred with Charcot-Marie-Tooth disease in which males were more severely affected than females. Affected males had symptom onset in the first 13 years of life. Symptoms included foot deformities, abnormal ...
Molecular genetics OMIM In affected members of a family with CMTX6, Kennerson et al. (2013) identified a missense mutation in the PDK3 gene (R158H; 300906.0001). The mutation, which was found by linkage analysis combined with whole-exome sequencing and confirmed by Sanger ...