Autosomal dominant Charcot-Marie-Tooth disease type 2G

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2G
CMT2G
Number of Symptoms 24
OrphanetNr: 99941
OMIM Id: 608591
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[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:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
2
 (HPO:0003384) Peripheral axonal atrophy 5 / 7739
3
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
4
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
5
 (HPO:0003376) Steppage gait 41 / 7739
6
 (HPO:0001288) Gait disturbance 318 / 7739
7
 (HPO:0001265) Hyporeflexia 208 / 7739
8
 (HPO:0002936) Distal sensory impairment 96 / 7739
9
 (HPO:0001284) Areflexia 198 / 7739
10
 (HPO:0001760) Abnormality of the foot 96 / 7739
11
 (HPO:0001838) Rocker bottom foot 85 / 7739
12
 (HPO:0001765) Hammertoe 63 / 7739
13
 (HPO:0001822) Hallux valgus 70 / 7739
14
 (HPO:0001763) Pes planus 176 / 7739
15
 (HPO:0001761) Pes cavus 225 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (HPO:0002460) Distal muscle weakness 122 / 7739
18
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
19
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
20
 (OMIM) Axonal atrophy on nerve biopsy 5 / 7739
21
 (HPO:0003677) Slow progression 134 / 7739
22
 (OMIM) Decreased number of myelinated fibers may be found 5 / 7739
23
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berciano et al. (1986) described a large family in which 10 members over 3 generations had a neuronal form of hereditary motor and sensory neuropathy. Peak age at onset was in the second decade. Some members showed slight ...