Charcot-Marie-Tooth disease type 1D

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY MOTOR AND SENSORY NEUROPATHY 1D
HMSN ID
HMSN1D
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D
CMT1D
Number of Symptoms 12
OrphanetNr: 101084
OMIM Id: 607678
ICD-10: G60.0
UMLs: C1843247
MeSH: C537985
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:0001288) Gait disturbance 318 / 7739
2
 (HPO:0003376) Steppage gait 41 / 7739
3
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
4
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
5
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
6
 (HPO:0002460) Distal muscle weakness 122 / 7739
7
 (HPO:0003693) Distal amyotrophy 118 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (HPO:0003828) Variable expressivity 130 / 7739
10
 (OMIM) Upper limb involvement may occur later 10 / 7739
11
 (HPO:0003621) Juvenile onset 105 / 7739
12
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 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).
Molecular genetics OMIM Warner et al. (1998) identified heterozygous mutations in the EGR2 gene (129010.0002) in a family with autosomal dominant Charcot-Marie-Tooth disease type 1.