Autosomal dominant Charcot-Marie-Tooth disease type 2O

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O
CMT2O
Number of Symptoms 20
OrphanetNr: 284232
OMIM Id: 614228
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant Charcot-Marie-Tooth disease type 2
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002359) Frequent falls 24 / 7739
2
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0002936) Distal sensory impairment 96 / 7739
5
 (HPO:0001328) Specific learning disability 114 / 7739
6
 (HPO:0001265) Hyporeflexia 208 / 7739
7
 (HPO:0001761) Pes cavus 225 / 7739
8
 (HPO:0009046) Difficulty running 17 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (HPO:0003690) Limb muscle weakness 41 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
13
 (OMIM) Neuropathic pain 2 / 7739
14
 (OMIM) Sural nerve biopsy shows axonal degenerative process 1 / 7739
15
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
16
 (HPO:0003677) Slow progression 134 / 7739
17
 (OMIM) Upper limb involvement may occur 2 / 7739
18
 (OMIM) Distal sensory impairment, variable 1 / 7739
19
 (OMIM) Recurrent falls 1 / 7739
20
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weedon et al. (2011) reported a large 4-generation family with autosomal dominant inheritance of an axonal peripheral neuropathy consistent with CMT. Affected individuals presented in childhood with delayed motor milestones and/or an abnormal gait and difficulty running. Physical ...
Molecular genetics OMIM In affected members of a large 4-generation family with autosomal dominant axonal CMT2O, Weedon et al. (2011) identified a heterozygous mutation in the DYNC1H1 gene (H306R; 600112.0001). The mutation was identified by exome sequencing. Weedon et al. (2011) ...