Charcot-Marie-Tooth disease type 1F

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F
CMT1F
Number of Symptoms 20
OrphanetNr: 101085
OMIM Id: 607734
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: 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:0001270) Motor delay 322 / 7739
2
 (HPO:0007233) Clusters of axonal regeneration 1 / 7739
3
 (HPO:0003383) Onion bulb formation 30 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0001284) Areflexia 198 / 7739
6
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
7
 (HPO:0002936) Distal sensory impairment 96 / 7739
8
 (HPO:0003481) Segmental peripheral demyelination/remyelination 12 / 7739
9
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
10
 (HPO:0004336) Myelin outfoldings 4 / 7739
11
 (HPO:0001761) Pes cavus 225 / 7739
12
 (HPO:0003693) Distal amyotrophy 118 / 7739
13
 (HPO:0002460) Distal muscle weakness 122 / 7739
14
 (OMIM) Segmental demyelination/remyelination on nerve biopsy 9 / 7739
15
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
16
 (HPO:0003621) Juvenile onset 105 / 7739
17
 (OMIM) 'Onion bulb' formation on nerve biopsy 6 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0003828) Variable expressivity 130 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jordanova et al. (2003) reported 3 families with a form of autosomal dominant CMT1. Disease onset was in infancy or childhood (range 1 to 13 years), with distal limb muscle weakness and atrophy, worse in the lower limbs, ...
Molecular genetics OMIM In 3 families and 3 sporadic patients with CMT1, Jordanova et al. (2003) identified mutations in the NEFL gene (see, e.g., 162280.0003 and 162280.0004).

In 4 Palestinian sibs with severe early-onset neuropathy and decreased NCV, Yum ...