HYPERTROPHIC NEUROPATHY AND CATARACT
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
6
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
239900
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Autosomal recessive inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
4
|
(OMIM)
|
Severe distal sensory and motor loss |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Neuropathy, hypertrophic |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |