Charcot-Marie-Tooth disease type 4B2

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED
CMT4B2
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED
Number of Symptoms 39
OrphanetNr: 99956
OMIM Id: 604563
ICD-10: G60.0
UMLs: C1858278
MeSH: C535421
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Charcot-Marie-Tooth disease type 4
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000501) Glaucoma 180 / 7739
2
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
 (HPO:0002355) Difficulty walking 61 / 7739
6
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
7
 (HPO:0003383) Onion bulb formation 30 / 7739
8
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
9
 (HPO:0001284) Areflexia 198 / 7739
10
 (HPO:0001265) Hyporeflexia 208 / 7739
11
 (HPO:0001288) Gait disturbance 318 / 7739
12
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
13
 (HPO:0002936) Distal sensory impairment 96 / 7739
14
 (HPO:0003376) Steppage gait 41 / 7739
15
 (HPO:0001171) Split hand 72 / 7739
16
 (HPO:0002751) Kyphoscoliosis 131 / 7739
17
 (HPO:0001840) Metatarsus adductus 49 / 7739
18
 (HPO:0004684) Talipes valgus 28 / 7739
19
 (HPO:0001765) Hammertoe 63 / 7739
20
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
21
 (HPO:0001760) Abnormality of the foot 96 / 7739
22
 (HPO:0001762) Talipes equinovarus 309 / 7739
23
 (HPO:0001178) Ulnar claw 8 / 7739
24
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
25
 (HPO:0001761) Pes cavus 225 / 7739
26
 (HPO:0003693) Distal amyotrophy 118 / 7739
27
 (HPO:0002460) Distal muscle weakness 122 / 7739
28
 (OMIM) Glaucoma may precede development of neuropathy 1 / 7739
29
 (OMIM) Early onset open-angle glaucoma 2 / 7739
30
 (HPO:0003621) Juvenile onset 105 / 7739
31
 (OMIM) Thin myelin sheaths 4 / 7739
32
 (OMIM) Segmental demyelination/remyelination on nerve biopsy 9 / 7739
33
 (OMIM) Severe distal sensory impairment 1 / 7739
34
 (OMIM) Abnormal myelin folding consisting of globular masses of irregular myelin thickening 1 / 7739
35
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
36
 (OMIM) 'Onion bulb' formation on nerve biopsy 6 / 7739
37
 (OMIM) Kyphoscoliosis may be present 3 / 7739
38
 (OMIM) CSF protein content increased or at upper limit of normal 1 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive Charcot-Marie-Tooth disease type 4B is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. ...
Clinical Description OMIM Gambardella et al. (1998) reported 2 sibs in a family from a small village in southern Italy who had early-onset CMT with focally folded myelin sheaths. The patients developed symptoms at 2 and 10 years of age, respectively. ...
Molecular genetics OMIM In all 4 affected individuals of a Turkish family with CMT4B2, Senderek et al. (2003) identified a homozygous in-frame deletion of exons 11 and 12 of the SBF2 gene (607697.0001).

In 2 Italian sibs with CMT4B2 ...