Autosomal dominant Charcot-Marie-Tooth disease type 2F

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2F
CMT2F
Number of Symptoms 19
OrphanetNr: 99940
OMIM Id: 606595
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant Charcot-Marie-Tooth disease type 2
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001284) Areflexia 198 / 7739
2
 (HPO:0003376) Steppage gait 41 / 7739
3
 (HPO:0002380) Fasciculations 42 / 7739
4
 (HPO:0001288) Gait disturbance 318 / 7739
5
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
6
 (HPO:0007267) Chronic axonal neuropathy 5 / 7739
7
 (HPO:0001265) Hyporeflexia 208 / 7739
8
 (HPO:0002936) Distal sensory impairment 96 / 7739
9
 (HPO:0001178) Ulnar claw 8 / 7739
10
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
11
 (HPO:0001761) Pes cavus 225 / 7739
12
 (HPO:0001171) Split hand 72 / 7739
13
 (HPO:0002460) Distal muscle weakness 122 / 7739
14
 (HPO:0003394) Muscle cramps 106 / 7739
15
 (HPO:0003693) Distal amyotrophy 118 / 7739
16
 (OMIM) Normal or mildly decreased motor nerve conduction velocities (NCV) 15 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
19
 (OMIM) Sural nerve biopsy shows chronic axonal neuropathy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ismailov et al. (2001) reported a 6-generation family with autosomal dominant Charcot-Marie-Tooth disease of the axonal type (CMT2; see 118200) from the Voronezh province of Russia. Fourteen individuals were diagnosed with CMT2 with a similar clinical phenotype. Disease ...
Molecular genetics OMIM In affected members of a Russian family with CMT2F, previously reported by Ismailov et al. (2001), Evgrafov et al. (2004) identified a mutation in the HSPB1 gene (S135F; 602195.0001). In affected members of a Belgian family with CMT2F, ...