Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

General Information (adopted from Orphanet):

Synonyms, Signs: CMTDIF
Number of Symptoms 13
OrphanetNr: 352670
OMIM Id: 615185
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: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant intermediate Charcot-Marie-Tooth disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003383) Onion bulb formation 30 / 7739
2
(HPO:0003450) Axonal regeneration 4 / 7739
3
(HPO:0001265) Hyporeflexia 208 / 7739
4
(HPO:0003376) Steppage gait 41 / 7739
5
(HPO:0002936) Distal sensory impairment 96 / 7739
6
(HPO:0001765) Hammertoe 63 / 7739
7
(HPO:0001761) Pes cavus 225 / 7739
8
(OMIM) Distal muscle weakness due to peripheral neuropathy of upper and lower limbs 1 / 7739
9
(OMIM) Variable nerve conduction velocities (range 16.5 to 45.7 m/s) 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Distal muscle atrophy due to peripheral neuropathy of upper and lower limbs 1 / 7739
12
(OMIM) Sural nerve biopsy shows loss of myelinated fibers 2 / 7739
13
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased ...
Clinical Description OMIM Lee et al. (2010) reported a 3-generation Han Chinese family in which 7 patients had Charcot-Marie-Tooth disease. The proband was a 49-year-old man who had been wheelchair-bound for 3 years. He had normal motor development as a child, ...
Molecular genetics OMIM In affected members of a Chinese family with dominant intermediate CMT (Lee et al., 2010), Soong et al. (2013) identified a heterozygous mutation in the GNB4 gene (G53D; 610863.0001). The mutation was identified by exome sequencing. An unrelated ...