Charcot-Marie-Tooth disease type 4B1

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1
CMT4B1
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B
CMT4B
Number of Symptoms 16
OrphanetNr: 99955
OMIM Id: 601382
ICD-10: G60.0
UMLs: C1832399
MeSH: C535420
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0010628) Facial palsy 146 / 7739
2
 (HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0002936) Distal sensory impairment 96 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0007208) Irregular myelin loops 1 / 7739
7
 (HPO:0001760) Abnormality of the foot 96 / 7739
8
 (HPO:0002650) Scoliosis 705 / 7739
9
 (HPO:0001762) Talipes equinovarus 309 / 7739
10
 (HPO:0003701) Proximal muscle weakness 105 / 7739
11
 (HPO:0002460) Distal muscle weakness 122 / 7739
12
 (HPO:0003693) Distal amyotrophy 118 / 7739
13
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Scoliosis may be present 2 / 7739
16
 (OMIM) Severely decreased motor nerve conduction velocity (NCV) (15 m/s) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Quattrone et al. (1996) and Bolino et al. (1996) reported a large consanguineous southern Italian family in which 10 members were affected with a distinct form of autosomal recessive demyelinating neuropathy, which they designated Charcot-Marie-Tooth disease type 4B. ...
Molecular genetics OMIM Bolino et al. (1998) excluded the SCN2B gene (601327) as a candidate for the disorder.

In unrelated CMT4B patients, Bolino et al. (2000) identified 5 different mutations in the MTMR2 gene (603557.0001-603557.0005). The mutations, found in ...