Narcolepsy-cataplexy
General Information (adopted from Orphanet):
Synonyms, Signs: |
GĂ©lineau disease |
Number of Symptoms | 18 |
OrphanetNr: | 2073 |
OMIM Id: |
161400
605841 609039 612417 612851 614223 614250 |
ICD-10: |
G47.4 |
UMLs: |
C0027404 C0751362 |
MeSH: |
D009290 |
MedDRA: |
10028713 |
Snomed: |
193042000 60380001 |
Prevalence, inheritance and age of onset:
Prevalence: | 25 of 100 000 [Orphanet] |
Inheritance: |
Unknown [Orphanet] |
Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Sleep disorder
-Rare neurologic disease |
Symptom Information:
|
(HPO:0000496) | Abnormality of eye movement | Frequent [Orphanet] | 79 / 7739 | |||
|
(HPO:0000478) | Abnormality of the eye | Frequent [Orphanet] | 126 / 7739 | |||
|
(HPO:0000738) | Hallucinations | Very frequent [Orphanet] | 60 / 7739 | |||
|
(HPO:0002494) | Abnormal rapid eye movement sleep | 4 / 7739 | ||||
|
(HPO:0002189) | Excessive daytime sleepiness | 8 / 7739 | ||||
|
(HPO:0002360) | Sleep disturbance | Very frequent [Orphanet] | 113 / 7739 | |||
|
(HPO:0002524) | Cataplexy | 8 / 7739 | ||||
|
(HPO:0002330) | Paroxysmal drowsiness | 2 / 7739 | ||||
|
(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
|
(HPO:0006896) | Hypnopompic hallucinations | 2 / 7739 | ||||
|
(HPO:0002354) | Memory impairment | Very frequent [Orphanet] | 63 / 7739 | |||
|
(HPO:0002519) | Hypnagogic hallucinations | 3 / 7739 | ||||
|
(HPO:0001513) | Obesity | Occasional [Orphanet] | 172 / 7739 | |||
|
(HPO:0001695) | Cardiac arrest | Occasional [Orphanet] | 87 / 7739 | |||
|
(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
|
(HPO:0030050) | Narcolepsy | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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