Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

General Information (adopted from Orphanet):

Synonyms, Signs: DI-CMTC
CMTDIC
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Number of Symptoms 14
OrphanetNr: 100045
OMIM Id: 608323
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0002936) Distal sensory impairment 96 / 7739
2
(HPO:0003450) Axonal regeneration 4 / 7739
3
(HPO:0001760) Abnormality of the foot 96 / 7739
4
(HPO:0002460) Distal muscle weakness 122 / 7739
5
(HPO:0003484) Upper limb muscle weakness 19 / 7739
6
(HPO:0003693) Distal amyotrophy 118 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
9
(OMIM) Low to normal range of nerve conduction velocity (NCV) (24-41 m/s) 2 / 7739
10
(OMIM) Decreased nerve fiber density and thickness 1 / 7739
11
(OMIM) Axonal regeneration on nerve biopsy 2 / 7739
12
(OMIM) No onion bulb formations 1 / 7739
13
(OMIM) Upper limb involvement may occur later 10 / 7739
14
(OMIM) Foot deformities may occur 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jordanova et al. (2003) reported 2 unrelated families with autosomal dominant intermediate Charcot-Marie-Tooth disease. One family, American with German and Polish roots, contained 15 affected individuals over 4 generations. Age at onset was in the first and second ...
Molecular genetics OMIM In the American family described by Jordanova et al. (2003), Jordanova et al. (2006) found a missense mutation in the YARS gene (G41R; 603623.0001). In the Bulgarian family they found a different missense mutation (E196K; 603623.0002), and in ...