Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

General Information (adopted from Orphanet):

Synonyms, Signs: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS
CMTDIE
Charcot-Marie-Tooth disease - nephropathy
Number of Symptoms 26
OrphanetNr: 93114
OMIM Id: 614455
ICD-10: G60.0
N04.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0003774) Stage 5 chronic kidney disease rare [HPO:skoehler] 78 / 7739
2
 (HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
3
 (HPO:0000093) Proteinuria 169 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
7
 (HPO:0003376) Steppage gait 41 / 7739
8
 (HPO:0002936) Distal sensory impairment 96 / 7739
9
 (HPO:0001288) Gait disturbance 318 / 7739
10
 (HPO:0001265) Hyporeflexia 208 / 7739
11
 (HPO:0003383) Onion bulb formation 30 / 7739
12
 (HPO:0003447) Axonal loss 11 / 7739
13
 (HPO:0001284) Areflexia 198 / 7739
14
 (HPO:0001171) Split hand 72 / 7739
15
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
16
 (HPO:0001761) Pes cavus 225 / 7739
17
 (HPO:0007149) Distal upper limb amyotrophy 4 / 7739
18
 (HPO:0001765) Hammertoe 63 / 7739
19
 (HPO:0002460) Distal muscle weakness 122 / 7739
20
 (HPO:0008944) Distal lower limb amyotrophy 12 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Amyotrophy, distal, upper and lower limbs 1 / 7739
23
 (HPO:0003676) Progressive disorder 148 / 7739
24
 (OMIM) Distal limb muscle atrophy due to peripheral neuropathy 48 / 7739
25
 (OMIM) Sural nerve biopsy shows axonal loss 2 / 7739
26
 (OMIM) Low to normal range of motor nerve conduction velocities (23 to 45 m/sec) ('intermediate' CMT) 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage ...
Clinical Description OMIM Lemieux and Neemeh (1967) reported a French family in which several individuals had CMT disease, 1 of whom also had clear renal involvement. The 21-year-old proband developed walking difficulties at age 8 years, requiring orthopedic corrections, and showed ...
Molecular genetics OMIM In 12 (75%) of 16 index patients with CMTDIE with FSGS, Boyer et al. (2011) identified 9 novel heterozygous mutations in the INF2 gene (see, e.g., 610982.0006-610982.0011). One of the patients with a mutation had been reported by ...