CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R
CMT2R
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615490
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001284) Areflexia 198 / 7739
2
(HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
3
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
4
(HPO:0002136) Broad-based gait 30 / 7739
5
(HPO:0001761) Pes cavus 225 / 7739
6
(HPO:0001762) Talipes equinovarus 309 / 7739
7
(HPO:0001290) Generalized hypotonia 51 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0003199) Decreased muscle mass 27 / 7739
10
(OMIM) Inability to walk on heels 1 / 7739
11
(OMIM) Atrophy of the small muscles in the hands and feet 1 / 7739
12
(OMIM) Muscle weakness and atrophy, upper and lower limbs 1 / 7739
13
(OMIM) Sural nerve biopsy shows nonspecific axonal degeneration 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Slow motor nerve conduction velocities 2 / 7739
16
(OMIM) Swollen myelinated fibers 1 / 7739
17
(OMIM) Decreased sensory and motor nerve amplitudes 1 / 7739
18
(OMIM) Delayed walking 13 / 7739
19
(OMIM) Accumulation of neurofilaments within axons 1 / 7739
20
(OMIM) Slight build 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ylikallio et al. (2013) reported an 18-year-old Finnish girl with early-onset axonal peripheral neuropathy. She had mildly delayed motor development with independent walking at age 1 year. Examination at age 4 years showed generalized hypotonia, thin build with ...
Molecular genetics OMIM In a Finnish girl with autosomal recessive early-onset Charcot-Marie-Tooth disease type 2R, Ylikallio et al. (2013) identified compound heterozygous mutations in the TRIM2 gene (614141.0001 and 614141.0002). The mutations were found by whole-exome sequencing and segregated with the ...