INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
9
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
147530
|
|
ICD-10:
|
|
|
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:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0007021)
|
Pain insensitivity |
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0010830)
|
Impaired tactile sensation |
|
|
|
|
1 / 7739
|
|
3
|
(HPO:0003130)
|
Abnormal peripheral myelination |
|
|
|
|
3 / 7739
|
|
4
|
(OMIM)
|
Hyperplastic myelinopathy |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Inability to distinguish hot and cold, sharp and dull |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Absent flare on intradermal injection of histamine |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
8
|
(OMIM)
|
Normal unmyelinated C fibers |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Medium-sized and large-sized myelinated fibers involved |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |