Autosomal dominant Charcot-Marie-Tooth disease type 2B

General Information (adopted from Orphanet):

Synonyms, Signs: HMSN IIB
HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B
HMSN2B
CMT2B
Number of Symptoms 33
OrphanetNr: 99936
OMIM Id: 600882
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: Adolescent
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:0003384) Peripheral axonal atrophy 5 / 7739
2
 (HPO:0001288) Gait disturbance 318 / 7739
3
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
4
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
5
 (HPO:0001284) Areflexia 198 / 7739
6
 (HPO:0001265) Hyporeflexia 208 / 7739
7
 (HPO:0003376) Steppage gait 41 / 7739
8
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
9
 (HPO:0001886) Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) 5 / 7739
10
 (HPO:0001868) Autoamputation of foot 2 / 7739
11
 (HPO:0001763) Pes planus 176 / 7739
12
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
13
 (HPO:0001760) Abnormality of the foot 96 / 7739
14
 (HPO:0001822) Hallux valgus 70 / 7739
15
 (HPO:0001218) Autoamputation 10 / 7739
16
 (HPO:0001838) Rocker bottom foot 85 / 7739
17
 (HPO:0001761) Pes cavus 225 / 7739
18
 (HPO:0001765) Hammertoe 63 / 7739
19
 (HPO:0000962) Hyperkeratosis 216 / 7739
20
 (HPO:0001810) Dystrophic toenail 9 / 7739
21
 (HPO:0005595) Generalized hyperkeratosis 14 / 7739
22
 (HPO:0003693) Distal amyotrophy 118 / 7739
23
 (HPO:0002460) Distal muscle weakness 122 / 7739
24
 (OMIM) Decreased number of myelinated fibers may be found 5 / 7739
25
 (OMIM) Ulcers, distal, due to sensory neuropathy 1 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
28
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
29
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
30
 (OMIM) Small 'onion bulbs' may be present 4 / 7739
31
 (OMIM) Axonal atrophy on nerve biopsy 5 / 7739
32
 (OMIM) Marked distal sensory impairment 1 / 7739
33
 (OMIM) Ulcers often lead to infection and amputation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a single large kindred with an autosomal dominant peripheral sensory neuropathy, Kwon et al. (1995) demonstrated linkage of the disorder to the interval between microsatellite markers D3S1769 and D3S1744. Kwon et al. (1995) considered this to be ...
Molecular genetics OMIM Verhoeven et al. (2003) performed molecular genetic study of 2 families with an ulcero-mutilating phenotype, which were previously linked to the CMT2B locus: an American family of Kwon et al. (1995) and a Scottish family of De Jonghe ...