Hereditary thermosensitive neuropathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 84093
OMIM Id: 602107
ICD-10: G60.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant hereditary demyelinating motor and sensory neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003401) Paresthesia 42 / 7739
2
(HPO:0001284) Areflexia 198 / 7739
3
(HPO:0001324) Muscle weakness 859 / 7739
4
(OMIM) Reversible episodic ascending muscle weakness, paresthesias, and areflexia triggered by elevation of body temperature over 38.5 degrees C. 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Thermosensitive neuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Magy et al. (1997) described a French family in which 8 living members and 4 deceased members in 4 generations, in an autosomal dominant pedigree pattern, had a hereditary neuropathy with probable thermosensitivity. Patients presented with reversible episodes ...