Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M, INCLUDED
CMT2M, INCLUDED
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M, INCLUDED
DI-CMTB
CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, INCLUDED
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED
CMTDIB
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B
Number of Symptoms 19
OrphanetNr: 100044
OMIM Id: 606482
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: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0003383) Onion bulb formation 30 / 7739
4
 (HPO:0007107) Segmental peripheral demyelination Rare [HPO:skoehler] 3 / 7739
5
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0002936) Distal sensory impairment 96 / 7739
8
 (HPO:0001761) Pes cavus 225 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (HPO:0003693) Distal amyotrophy 118 / 7739
11
 (OMIM) Loss of myelinated fibers on nerve biopsy 6 / 7739
12
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (HPO:0040078) Axonal degeneration 10 / 7739
15
 (OMIM) Axonal degeneration 7 / 7739
16
 (OMIM) Low to normal range of motor nerve conduction velocities (23 to 45 m/sec) ('intermediate' CMT) 4 / 7739
17
 (HPO:0003621) Juvenile onset 105 / 7739
18
 (OMIM) Rare segmental demyelination/remyelination 2 / 7739
19
 (OMIM) Individuals with normal NCV values have axonal CMT (CMT2M) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.

- Classification ...
Clinical Description OMIM Kennerson et al. (2001) described a form of CMT that they referred to as 'dominant intermediate CMT.' They used the term 'intermediate conduction velocity' to describe CMT families with nerve conduction velocities, in different affected individuals, that overlap ...
Molecular genetics OMIM Zuchner et al. (2005) presented evidence that the form of dominant intermediate CMT that maps to 19p13.2-p12 is caused by mutations in the gene encoding dynamin-2 (DNM2; 602378). They refined the locus associated with DI-CMTB to 4.2 Mb ...