Charcot-Marie-Tooth disease type 1C

General Information (adopted from Orphanet):

Synonyms, Signs: CMT, SLOW NERVE CONDUCTION TYPE C
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
HMSN IC
HMSN1C
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C
CMT1C
Number of Symptoms 14
OrphanetNr: 101083
OMIM Id: 601098
ICD-10: G60.0
UMLs: C0270913
MeSH: C537984
MedDRA:
Snomed: 4183003

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Charcot-Marie-Tooth disease type 1
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0003383) Onion bulb formation 30 / 7739
3
 (HPO:0002936) Distal sensory impairment 96 / 7739
4
 (HPO:0003382) Hypertrophic nerve changes 6 / 7739
5
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
6
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
7
 (HPO:0001761) Pes cavus 225 / 7739
8
 (HPO:0002460) Distal muscle weakness 122 / 7739
9
 (HPO:0003693) Distal amyotrophy 118 / 7739
10
 (HPO:0003621) Juvenile onset 105 / 7739
11
 (OMIM) 'Onion bulb' formation on nerve biopsy 6 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
14
 (OMIM) Segmental demyelination/remyelination on nerve biopsy 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
Clinical Description OMIM Chance et al. (1992) reported 2 unrelated kindreds (K1550 and K1551) with autosomal dominant demyelinating CMT affecting multiple generations. All affected individuals had distal muscle weakness and atrophy and depressed deep tendon reflexes. Variable pes cavus and sensory ...
Molecular genetics OMIM Using a combination of standard positional cloning and candidate gene approaches, Street et al. (2003) identified LITAF as the causal gene for CMT1C. They identified 3 missense mutations in this gene (603795.0001-603795.0003), each in a different CMT1C pedigree. ...