Charcot-Marie-Tooth disease type 4B3

General Information (adopted from Orphanet):

Synonyms, Signs: CMT4B3
Charcot-Marie-Tooth disease with focally folded myelin
Number of Symptoms 24
OrphanetNr: 363981
OMIM Id: 615284
ICD-10: G60.0
UMLs:
MeSH:
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:0000020) Urinary incontinence rare [HPO:skoehler] 75 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000602) Ophthalmoplegia rare [HPO:skoehler] 56 / 7739
4
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
5
(HPO:0003383) Onion bulb formation 30 / 7739
6
(HPO:0001284) Areflexia 198 / 7739
7
(HPO:0002936) Distal sensory impairment 96 / 7739
8
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
9
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
10
(HPO:0001288) Gait disturbance 318 / 7739
11
(HPO:0002650) Scoliosis 705 / 7739
12
(HPO:0001763) Pes planus 176 / 7739
13
(HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
14
(OMIM) Sural nerve biopsy showed loss of large myelinated fibers 3 / 7739
15
(OMIM) Distal limb muscle weakness, lower more than upper 1 / 7739
16
(OMIM) Peripheral neuropathy causing distal leg weakness 1 / 7739
17
(OMIM) Distal limb muscle atrophy, lower more than upper 1 / 7739
18
(HPO:0012444) Brain atrophy rare [HPO:skoehler] 24 / 7739
19
(HPO:0003676) Progressive disorder 148 / 7739
20
(OMIM) Focally folded myelin 2 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Regenerating clusters of axons 1 / 7739
23
(OMIM) Position and vibratory senses more impaired than pain and temperature senses 1 / 7739
24
(OMIM) Proximal muscles may be mildly affected 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nakhro et al. (2013) reported 3 Korean sisters, born of unrelated parents, with onset of progressive demyelinating CMT in or near the first decade of life (5 to 11 years). All presented with distal leg weakness, 2 with ...
Molecular genetics OMIM In 3 Korean sisters with Charcot-Marie-Tooth disease, Nakhro et al. (2013) identified compound heterozygous missense mutations in the SBF1 gene (603560.0001 and 603560.0002). The mutations were found by whole-exome sequencing and segregated with the disorder in the family. ...