NARCOLEPSY 3
General Information (adopted from Orphanet):
Synonyms, Signs: |
NRCLP3 |
Number of Symptoms | 11 |
OrphanetNr: | |
OMIM Id: |
609039
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002189) | Excessive daytime sleepiness | 8 / 7739 | ||||
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(HPO:0002494) | Abnormal rapid eye movement sleep | 4 / 7739 | ||||
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(HPO:0002330) | Paroxysmal drowsiness | 2 / 7739 | ||||
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(HPO:0002524) | Cataplexy | 8 / 7739 | ||||
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(HPO:0002519) | Hypnagogic hallucinations | 3 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Cataplexy, paroxysmal weakness or paralysis | 2 / 7739 | ||||
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(OMIM) | Milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | 2 / 7739 | ||||
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(OMIM) | Cataplexy often triggered by strong emotions | 2 / 7739 | ||||
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(HPO:0030050) | Narcolepsy | 6 / 7739 | ||||
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(OMIM) | Attacks of disabling daytime drowsiness and low alertness | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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