Charcot-Marie-Tooth disease type 4H

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H
CMT4H
Number of Symptoms 23
OrphanetNr: 99954
OMIM Id: 609311
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
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:0001270) Motor delay 322 / 7739
2
 (HPO:0002936) Distal sensory impairment 96 / 7739
3
 (HPO:0003380) Decreased number of peripheral myelinated nerve fibers 30 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0002515) Waddling gait 56 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0003383) Onion bulb formation 30 / 7739
8
 (HPO:0011096) Peripheral demyelination 28 / 7739
9
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
10
 (HPO:0001761) Pes cavus 225 / 7739
11
 (HPO:0002650) Scoliosis 705 / 7739
12
 (HPO:0001762) Talipes equinovarus 309 / 7739
13
 (HPO:0003484) Upper limb muscle weakness 19 / 7739
14
 (HPO:0009053) Distal lower limb muscle weakness 13 / 7739
15
 (HPO:0008944) Distal lower limb amyotrophy 12 / 7739
16
 (HPO:0003593) Infantile onset 249 / 7739
17
 (OMIM) Nerve biopsy shows demyelination/remyelination 1 / 7739
18
 (OMIM) Distal lower limb muscle weakness due to peripheral neuropathy 3 / 7739
19
 (OMIM) Nerve biopsy shows decreased number of myelinated fibers 1 / 7739
20
 (OMIM) Distal lower limb muscle atrophy due to peripheral neuropathy 3 / 7739
21
 (OMIM) Upper limb involvement may occur later 10 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Nerve biopsy shows 'onion bulb' formations 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Sandre-Giovannoli et al. (2005) reported a total of 10 individuals from 2 families, 1 Lebanese and 1 Algerian, with a severe form of CMT. Onset occurred within the first 2 years of life and was manifested by ...
Molecular genetics OMIM In affected members of the Lebanese and Algerian families with CMT4H reported by De Sandre-Giovannoli et al. (2005), Delague et al. (2007) identified 2 different homozygous mutations in the FGD4 gene (611104.0002; 611104.0005). Stendel et al. (2007) also ...