Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

General Information (adopted from Orphanet):

Synonyms, Signs: RI-CMTC
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C
CMTRIC
RI-CMT type C
Number of Symptoms 14
OrphanetNr: 369867
OMIM Id: 615376
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
Adult
All ages
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001284) Areflexia 198 / 7739
2
 (HPO:0002936) Distal sensory impairment 96 / 7739
3
 (HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
4
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
5
 (HPO:0001760) Abnormality of the foot 96 / 7739
6
 (HPO:0001765) Hammertoe 63 / 7739
7
 (HPO:0001761) Pes cavus 225 / 7739
8
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (OMIM) Sural nerve biopsy shows thin myelination 1 / 7739
11
 (OMIM) Neurogenic atrophy see on muscle biopsy 4 / 7739
12
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Lower limbs more severely affected than upper limbs 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and ...
Clinical Description OMIM Azzedine et al. (2013) reported 2 unrelated consanguineous families of Portuguese and Moroccan origin, respectively, with onset of Charcot-Marie-Tooth disease mainly between the second and fifth decades of life, although 1 patient had onset at age 7 years. ...
Molecular genetics OMIM In affected members of 2 unrelated families with CMTRIC, Azzedine et al. (2013) identified 2 different homozygous truncating mutations in the PLEKHG5 gene (611101.0002 and 611101.0003, respectively). The mutations, which were found by homozygosity mapping and candidate gene ...