Autosomal dominant Charcot-Marie-Tooth disease type 2D

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2D
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2D
CMT2D
Number of Symptoms 22
OrphanetNr: 99938
OMIM Id: 601472
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: 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:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0002936) Distal sensory impairment 96 / 7739
3
 (HPO:0003393) Thenar muscle atrophy 10 / 7739
4
 (HPO:0001761) Pes cavus 225 / 7739
5
 (HPO:0009129) Upper limb amyotrophy 3 / 7739
6
 (HPO:0001765) Hammertoe 63 / 7739
7
 (HPO:0002650) Scoliosis 705 / 7739
8
 (HPO:0003427) Thenar muscle weakness 5 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (HPO:0003426) First dorsal interossei muscle atrophy 5 / 7739
11
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
12
 (HPO:0003435) Cold-induced hand cramps 3 / 7739
13
 (HPO:0003392) First dorsal interossei muscle weakness 5 / 7739
14
 (HPO:0003693) Distal amyotrophy 118 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
17
 (OMIM) Normal motor nerve conduction velocities 6 / 7739
18
 (HPO:0003677) Slow progression 134 / 7739
19
 (OMIM) Balance impairment 1 / 7739
20
 (OMIM) Upper limb weakness and atrophy predominates 2 / 7739
21
 (HPO:0003674) Onset 32 / 7739
22
 (OMIM) Scoliosis may be present 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ionasescu et al. (1996) reported results of clinical, electrophysiologic, and genetic linkage studies on a large pedigree with autosomal dominant Charcot-Marie-Tooth axonal neuropathy type 2, which they designated CMT2D. The pedigree consisted of 38 members, 14 of which ...
Molecular genetics OMIM In families with CMT2 reported by Ionasescu et al. (1996) and Pericak-Vance et al. (1997), Antonellis et al. (2003) identified a mutation in the GARS gene (600287.0001).

Irobi et al. (2004) reviewed the molecular genetics of ...