Autosomal dominant Charcot-Marie-Tooth disease type 2J

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
CMT2J
Number of Symptoms 26
OrphanetNr: 99943
OMIM Id: 607736
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: 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:0000478) Abnormality of the eye 126 / 7739
2
 (HPO:0000365) Hearing impairment 539 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
5
 (HPO:0002936) Distal sensory impairment 96 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0002015) Dysphagia 301 / 7739
8
 (HPO:0011096) Peripheral demyelination 28 / 7739
9
 (HPO:0001288) Gait disturbance 318 / 7739
10
 (HPO:0003376) Steppage gait 41 / 7739
11
 (HPO:0003378) Axonal degeneration/regeneration 12 / 7739
12
 (HPO:0001265) Hyporeflexia 208 / 7739
13
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
14
 (HPO:0001761) Pes cavus 225 / 7739
15
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
16
 (HPO:0003693) Distal amyotrophy 118 / 7739
17
 (HPO:0002460) Distal muscle weakness 122 / 7739
18
 (OMIM) Normal to mildly decreased motor nerve conduction velocities (NCV) 1 / 7739
19
 (OMIM) Secondary demyelination occurs later in disease 1 / 7739
20
 (OMIM) Coughing spasms, recurrent (reported in 1 family) 1 / 7739
21
 (OMIM) Axonal degeneration/regeneration on nerve biopsy 10 / 7739
22
 (OMIM) Brainstem auditory evoked potentials (BAEPs) suggest peripheral lesion 1 / 7739
23
 (OMIM) Slow pupillary reaction with slow light convergence reflex 1 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (OMIM) Absent pupillary reaction 1 / 7739
26
 (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 axonal CMT, see CMT2A1 (118210).
Clinical Description OMIM De Jonghe et al. (1999) reported 7 Charcot-Marie-Tooth families and 2 isolated CMT2 patients of Belgian ancestry with a clinically distinct phenotype characterized by late onset (fourth to fifth decade), marked sensory abnormalities, deafness, and pupillary abnormalities. Nerve ...
Molecular genetics OMIM In 7 CMT2 families and 2 isolated CMT patients with the unique CMT2 phenotype, De Jonghe et al. (1999) identified a T124M mutation in the MPZ gene (159440.0016). Phenotype/genotype correlations in 30 patients with the mutation indicated that, ...