Autosomal dominant Charcot-Marie-Tooth disease type 2P

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
CMT2P
Number of Symptoms 24
OrphanetNr: 300319
OMIM Id: 614436
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[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:0002380) Fasciculations 42 / 7739
2
 (HPO:0000764) Peripheral axonal degeneration 6 / 7739
3
 (HPO:0001284) Areflexia 198 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0006886) Impaired distal vibration sensation 8 / 7739
6
 (HPO:0002936) Distal sensory impairment 96 / 7739
7
 (HPO:0001765) Hammertoe rare [HPO:skoehler] 63 / 7739
8
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
9
 (HPO:0001761) Pes cavus 225 / 7739
10
 (HPO:0001838) Rocker bottom foot 85 / 7739
11
 (HPO:0001822) Hallux valgus 70 / 7739
12
 (HPO:0001763) Pes planus 176 / 7739
13
 (HPO:0002460) Distal muscle weakness 122 / 7739
14
 (HPO:0003693) Distal amyotrophy 118 / 7739
15
 (OMIM) Loss of ability to run due to lower limb weakness 1 / 7739
16
 (OMIM) Nerve conduction velocities only slightly decreased 1 / 7739
17
 (OMIM) Axonal sensorimotor neuropathy 6 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (OMIM) Sural nerve biopsy shows axonal degeneration 3 / 7739
20
 (OMIM) Difficulty in heel-to-toe walking 1 / 7739
21
 (OMIM) Muscle cramping 2 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (HPO:0003677) Slow progression 134 / 7739
24
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Guernsey et al. (2010) identified an extended multiply consanguineous family derived from a rural eastern Canadian isolate with 7 members affected with axonal CMT. Three further individuals were suspected to be affected. The index patient noted gradual onset ...
Molecular genetics OMIM In affected members of a large consanguineous family with CMT2, Guernsey et al. (2010) found homozygosity for a splice site mutation in the LRSAM1 gene (610933.0001). Heterozygous mutation carriers were unaffected.

In affected members of a ...