Hypernychthemeral syndrome
General Information (adopted from Orphanet):
Synonyms, Signs:
|
Non-24-hour sleep-wake syndrome
|
Number of Symptoms
|
8
|
OrphanetNr:
|
73267
|
OMIM Id:
|
|
ICD-10:
|
G47.2
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
18.5
of 100 000
[Orphanet]
|
Inheritance:
|
Unknown
[Orphanet]
|
Age of onset:
|
All ages
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
Sleep disorder
-Rare neurologic disease
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
3
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
4
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
5
|
(HPO:0100785)
|
Insomnia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
6
|
(HPO:0002354)
|
Memory impairment |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
7
|
(HPO:0002039)
|
Anorexia |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
8
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |