Autosomal dominant Charcot-Marie-Tooth disease type 2C

General Information (adopted from Orphanet):

Synonyms, Signs: HMSN IIC
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
HMSN2C
CMT2C
Number of Symptoms 40
OrphanetNr: 99937
OMIM Id: 606071
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:

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:0000020) Urinary incontinence 75 / 7739
2
(HPO:0000012) Urinary urgency 35 / 7739
3
(HPO:0012246) Oculomotor nerve palsy 2 / 7739
4
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
(HPO:0001265) Hyporeflexia 208 / 7739
6
(HPO:0001604) Vocal cord paresis 8 / 7739
7
(HPO:0011349) Abducens palsy 7 / 7739
8
(HPO:0002870) Obstructive sleep apnea 16 / 7739
9
(HPO:0002936) Distal sensory impairment 96 / 7739
10
(HPO:0001284) Areflexia 198 / 7739
11
(HPO:0007230) Decreased distal sensory nerve action potential 2 / 7739
12
(HPO:0001765) Hammertoe 63 / 7739
13
(HPO:0002650) Scoliosis 705 / 7739
14
(HPO:0200021) Down-sloping shoulders 18 / 7739
15
(HPO:0001761) Pes cavus 225 / 7739
16
(HPO:0009027) Foot dorsiflexor weakness 45 / 7739
17
(HPO:0009130) Hand muscle atrophy 11 / 7739
18
(HPO:0009113) Diaphragmatic weakness 12 / 7739
19
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
20
(HPO:0002878) Respiratory failure 57 / 7739
21
(HPO:0004878) Intercostal muscle weakness 1 / 7739
22
(HPO:0010307) Stridor 19 / 7739
23
(HPO:0002460) Distal muscle weakness 122 / 7739
24
(HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
25
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
(OMIM) Wasting of hand muscles often occurs early 1 / 7739
27
(OMIM) Proximal limb muscles may be involved in severe cases 1 / 7739
28
(OMIM) Impaired manual dexterity 1 / 7739
29
(OMIM) Decreased compound muscle action potentials (CMAP) 1 / 7739
30
(HPO:0003829) Incomplete penetrance 85 / 7739
31
(OMIM) Decreased or absent distal sensory nerve action potential (SNAP) 1 / 7739
32
(OMIM) Both upper and lower limb involvement 1 / 7739
33
(OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
34
(OMIM) Diaphragm involvement 1 / 7739
35
(OMIM) 'Sloping' shoulders due to muscle atrophy 1 / 7739
36
(HPO:0003674) Onset 32 / 7739
37
(OMIM) Normal motor nerve conduction velocities 6 / 7739
38
(OMIM) Neurogenic atrophy see on muscle biopsy 4 / 7739
39
(OMIM) Intercostal muscle involvement 1 / 7739
40
(OMIM) Abducens nerve palsy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HMSN2C, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal neuropathy with diaphragmatic and vocal cord paresis. Age at onset and severity is variable (Dyck et al., 1994; summary by Klein ...
Clinical Description OMIM Dyck et al. (1994) described 2 kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and by asymptomatic sensory loss, beginning in infancy or childhood ...
Molecular genetics OMIM In affected members of the family reported by McEntagart et al. (2005), Auer-Grumbach et al. (2010) identified a heterozygous mutation in the TRPV4 gene (R315W; 605427.0008). Auer-Grumbach et al. (2010) identified the R315W mutation in 4 members of ...