NEUROPATHY, PAINFUL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 256870
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003401) Paresthesia 42 / 7739
2
 (HPO:0003474) Sensory impairment 54 / 7739
3
 (HPO:0009830) Peripheral neuropathy 206 / 7739
4
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
5
 (HPO:0007340) Lower limb muscle weakness 61 / 7739
6
 (HPO:0003593) Infantile onset 249 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Tomaculous (sausage shaped) swellings of myelin sheaths on nerve biopsy 1 / 7739
9
 (OMIM) Painful hands and feet 1 / 7739
10
 (OMIM) Progressive weakness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: