Autosomal dominant Charcot-Marie-Tooth disease type 2I

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I
CMT2I
Number of Symptoms 17
OrphanetNr: 99942
OMIM Id: 607677
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: Adult
[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:0003378) Axonal degeneration/regeneration 12 / 7739
2
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0003376) Steppage gait 41 / 7739
5
 (HPO:0001288) Gait disturbance 318 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0001761) Pes cavus 225 / 7739
9
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
10
 (HPO:0003693) Distal amyotrophy 118 / 7739
11
 (HPO:0002460) Distal muscle weakness 122 / 7739
12
 (OMIM) Upper limb involvement may occur later 10 / 7739
13
 (OMIM) Normal to mildly decreased nerve conduction velocities (NCV) (39-40 m/s) 1 / 7739
14
 (OMIM) Loss of myelinated fibers on nerve biopsy 6 / 7739
15
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Marrosu et al. (1998) reported a large Sardinian family with CMT2.

Senderek et al. (2000) reported 2 unrelated families with autosomal dominant CMT2 characterized by late onset (range 47 to 60 years), distal muscle weakness and ...
Molecular genetics OMIM In the Sardinian family with an axonal CMT2 phenotype, Marrosu et al. (1998) identified a mutation in the myelin protein-zero gene (159440.0020). Senderek et al. (2000) identified 2 mutations in the MPZ gene in 2 families with classic ...