Autosomal dominant Charcot-Marie-Tooth disease type 2A1

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1
CMT2A1
HMSN IIA1
HMSN2A1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1
Number of Symptoms 29
OrphanetNr: 99946
OMIM Id: 118210
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:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
2
 (HPO:0003384) Peripheral axonal atrophy 5 / 7739
3
 (HPO:0003376) Steppage gait 41 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
9
 (HPO:0001288) Gait disturbance 318 / 7739
10
 (HPO:0003383) Onion bulb formation 30 / 7739
11
 (HPO:0001763) Pes planus 176 / 7739
12
 (HPO:0001822) Hallux valgus 70 / 7739
13
 (HPO:0001760) Abnormality of the foot 96 / 7739
14
 (HPO:0001765) Hammertoe 63 / 7739
15
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
16
 (HPO:0001761) Pes cavus 225 / 7739
17
 (HPO:0001838) Rocker bottom foot 85 / 7739
18
 (HPO:0003693) Distal amyotrophy 118 / 7739
19
 (HPO:0002460) Distal muscle weakness 122 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
22
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
23
 (OMIM) Decreased number of myelinated fibers may be found 5 / 7739
24
 (HPO:0003674) Onset 32 / 7739
25
 (OMIM) Axonal atrophy on nerve biopsy 5 / 7739
26
 (HPO:0001425) Heterogeneous 132 / 7739
27
 (HPO:0003677) Slow progression 134 / 7739
28
 (OMIM) Small 'onion bulbs' may be present 4 / 7739
29
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor ...
Clinical Description OMIM Saito et al. (1997) reported a Japanese family (family 694) in which 4 members spanning 3 generations were affected with CMT2A1 inherited in an autosomal dominant pattern. The proband was an 11-year-old boy who developed difficulty running at ...
Molecular genetics OMIM In all affected members of the CMT2A1 pedigree (family 694) reported by Saito et al. (1997), Zhao et al. (2001) identified a loss-of-function mutation in the KIF1B gene (605995.0001)