CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr:
OMIM Id: 118301
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis 459 / 7739
2
 (HPO:0001301) Chronic sensorineural polyneuropathy 2 / 7739
3
 (HPO:0003009) Enhanced neurotoxicity of vincristine 2 / 7739
4
 (HPO:0003447) Axonal loss 11 / 7739
5
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
6
 (HPO:0003091) Trophic limb changes 2 / 7739
7
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
8
 (HPO:0001278) Orthostatic hypotension 24 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0000763) Sensory neuropathy 78 / 7739
11
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
12
 (HPO:0000726) Dementia 131 / 7739
13
 (HPO:0001300) Parkinsonism 75 / 7739
14
 (HPO:0001761) Pes cavus 225 / 7739
15
 (HPO:0009049) Peroneal muscle atrophy 8 / 7739
16
 (HPO:0002013) Vomiting 191 / 7739
17
 (HPO:0002018) Nausea 44 / 7739
18
 (HPO:0002028) Chronic diarrhea 51 / 7739
19
 (HPO:0001026) Penetrating foot ulcers 2 / 7739
20
 (HPO:0000975) Hyperhidrosis 64 / 7739
21
 (HPO:0005150) Abnormal atrioventricular conduction 16 / 7739
22
 (HPO:0001678) Atrioventricular block 59 / 7739
23
 (HPO:0007110) Central hypoventilation 6 / 7739
24
 (HPO:0011727) Peroneal muscle weakness 6 / 7739
25
 (HPO:0003693) Distal amyotrophy 118 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) Distal arm and leg muscle atrophy and weakness 2 / 7739
28
 (OMIM) Sensory defect 2 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Mild to moderate loss of anterior horn cells in the spinal cord and substantia nigral pigmentary loss with gliosis 1 / 7739
31
 (OMIM) Peroneal muscle atrophy and weakness 2 / 7739
32
 (OMIM) Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies 2 / 7739
33
 (OMIM) Normal or slightly reduced nerve conduction velocity 2 / 7739
34
 (HPO:0002171) Gliosis 48 / 7739
35
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: