Charcot-Marie-Tooth disease type 4E

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4E NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT, INCLUDED
HYPOMYELINATION, SEVERE CONGENITAL
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E
CHN
CMT4E
Autosomal recessive congenital hypomyelinating neuropathy
Number of Symptoms 21
OrphanetNr: 99951
OMIM Id: 605253
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Charcot-Marie-Tooth disease type 4
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
2
 (HPO:0009830) Peripheral neuropathy 206 / 7739
3
 (HPO:0003383) Onion bulb formation 30 / 7739
4
 (HPO:0001270) Motor delay 322 / 7739
5
 (HPO:0001291) Abnormality of the cranial nerves 27 / 7739
6
 (HPO:0007182) Peripheral hypomyelination 7 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0001319) Neonatal hypotonia 101 / 7739
9
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
10
 (HPO:0002460) Distal muscle weakness 122 / 7739
11
 (HPO:0003693) Distal amyotrophy 118 / 7739
12
 (OMIM) Arthrogryposis multiplex congenita may occur 1 / 7739
13
 (HPO:0003577) Congenital onset 133 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Rare 'onion bulb' formations on nerve biopsy 1 / 7739
16
 (OMIM) Upper limb involvement may occur later 10 / 7739
17
 (OMIM) Severe hypomyelination on nerve biopsy 1 / 7739
18
 (OMIM) Respiratory failure due to neuropathy 1 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Severely decreased motor nerve conduction velocity (NCV) (15 m/s) 3 / 7739
21
 (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) Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. Warner et al. (1997, 1998) noted that pathologic findings on sural nerve biopsies show hypomyelination of ...
Clinical Description OMIM Warner et al. (1998) reported a patient with CHN. At 7 years of age she was generally hypotonic and her muscle bulk was diminished, more distally than proximally. Her strength was also more impaired distally. She ambulated with ...
Molecular genetics OMIM In a patient with congenital hypomyelinating neuropathy, Warner et al. (1996) identified a heterozygous mutation in the myelin protein zero gene (159440.0013).

The EGR2 gene attracted the attention of Warner et al. (1997, 1998) as a ...