CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 46
OrphanetNr:
OMIM Id: 302900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
3
 (HPO:0010831) Impaired proprioception 7 / 7739
4
 (HPO:0003376) Steppage gait 41 / 7739
5
 (HPO:0002495) Impaired vibratory sensation 26 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0009830) Peripheral neuropathy 206 / 7739
10
 (HPO:0003487) Babinski sign 179 / 7739
11
 (HPO:0003134) Abnormality of peripheral nerve conduction 38 / 7739
12
 (HPO:0002936) Distal sensory impairment 96 / 7739
13
 (HPO:0001953) Diabetic ketoacidosis 6 / 7739
14
 (HPO:0000819) Diabetes mellitus 131 / 7739
15
 (HPO:0002650) Scoliosis 705 / 7739
16
 (HPO:0001761) Pes cavus 225 / 7739
17
 (HPO:0001765) Hammertoe 63 / 7739
18
 (HPO:0008954) Intrinsic hand muscle atrophy 2 / 7739
19
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
20
 (HPO:0009005) Weakness of the intrinsic hand muscles 3 / 7739
21
 (HPO:0003116) Abnormal echocardiogram 33 / 7739
22
 (HPO:0001635) Congestive heart failure 232 / 7739
23
 (HPO:0001691) Muscular subvalvular aortic stenosis 3 / 7739
24
 (HPO:0005157) Concentric hypertrophic cardiomyopathy 5 / 7739
25
 (HPO:0003115) Abnormal EKG 44 / 7739
26
 (HPO:0003232) Mitochondrial malic enzyme reduced 4 / 7739
27
 (HPO:0003209) Decreased pyruvate carboxylase activity 5 / 7739
28
 (HPO:0011399) Tibialis atrophy 1 / 7739
29
 (HPO:0008963) Tibialis muscle weakness 1 / 7739
30
 (HPO:0011441) Abnormality of the medulla oblongata 4 / 7739
31
 (OMIM) Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla 3 / 7739
32
 (OMIM) Mild to moderate distal limb sensory loss 1 / 7739
33
 (OMIM) Impaired position sense 3 / 7739
34
 (HPO:0003133) Abnormality of the spinocerebellar tracts 3 / 7739
35
 (HPO:0003621) Juvenile onset 105 / 7739
36
 (HPO:0011397) Abnormality of the dorsal column of the spinal cord 3 / 7739
37
 (OMIM) Abnormal motor and sensory nerve conduction 4 / 7739
38
 (OMIM) Hypoactive knee and ankle jerks 3 / 7739
39
 (OMIM) Ulnar nerve enlargement 1 / 7739
40
 (OMIM) Tibialis weakness and atrophy 1 / 7739
41
 (HPO:0001417) X-linked inheritance 173 / 7739
42
 (OMIM) Incoordined limb movements 2 / 7739
43
 (OMIM) Low pyruvate carboxylase activity in liver and cultured fibroblasts 4 / 7739
44
 (OMIM) Intrinsic hand muscles weakness and atrophy 1 / 7739
45
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
46
 (OMIM) Anterior peroneal weakness and atrophy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: