Charcot-Marie-Tooth disease type 4J

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J
CMT4J
Number of Symptoms 14
OrphanetNr: 139515
OMIM Id: 611228
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 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:0003383) Onion bulb formation 30 / 7739
2
 (HPO:0002359) Frequent falls 24 / 7739
3
 (HPO:0001265) Hyporeflexia 17572665 IBIS 208 / 7739
4
 (HPO:0002936) Distal sensory impairment 96 / 7739
5
 (HPO:0007182) Peripheral hypomyelination 17572665 IBIS 7 / 7739
6
 (HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0000762) Decreased nerve conduction velocity 17572665 IBIS 36 / 7739
9
 (HPO:0001288) Gait disturbance 318 / 7739
10
 (HPO:0003447) Axonal loss 17572665 IBIS 11 / 7739
11
 (HPO:0005684) Distal arthrogryposis 17572665 IBIS 31 / 7739
12
 (HPO:0006466) Ankle contracture 17 / 7739
13
 (HPO:0002460) Distal muscle weakness 17572665 IBIS 122 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chow et al. (2007) reported 5 patients from 4 families with autosomal recessive Charcot-Marie-Tooth disorder and mutations in the FIG4 gene. The phenotype was severe. One patient was functionally quadriplegic, and her affected brother was wheelchair-bound while retaining ...
Molecular genetics OMIM Because of similarities in presentation between Charcot-Marie-Tooth disorder and 'pale tremor' (plt) mice, which carry a homozygous transposon insertion in intron 18 of the Fig4 gene, Chow et al. (2007) screened FIG4 in 95 individuals diagnosed with Charcot-Marie-Tooth ...