NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUALPATHWAY AND AUTONOMIC DISTURBANCE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 162380
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
2
 (HPO:0002459) Dysautonomia 34 / 7739
3
 (HPO:0002271) Autonomic dysregulation 11 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0002270) Abnormality of the autonomic nervous system 22 / 7739
6
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
7
 (HPO:0003487) Babinski sign 179 / 7739
8
 (HPO:0003693) Distal amyotrophy 118 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (OMIM) Stocking sensation loss 1 / 7739
11
 (MedDRA:10061411) Visual pathway disorder 2 / 7739
12
 (MedDRA:10047573) Visual pathway disorders 1 / 7739
13
 (OMIM) Progressive distal muscle weakness and atrophy 1 / 7739
14
 (OMIM) Upgoing toes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: