Details of Disease

General Information of Disease (ID: DISTYYJ6)

Disease Name Narcolepsy 1
Synonyms cataplexy; NRCLP1; narcoleptic syndrome 1; narcolepsy 1; HCRT narcolepsy; narcolepsy caused by mutation in HCRT
Definition A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.
Disease Hierarchy
DISLCNLI: Narcolepsy
DIS4RKXT: Hereditary narcolepsy
DISH7Y6Q: Narcolepsy type 1
DISTYYJ6: Narcolepsy 1
Disease Identifiers
MONDO ID
MONDO_0008062
MESH ID
C563534
UMLS CUI
C1834372
OMIM ID
161400
MedGen ID
371809

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HCRT TTU5HJP No Known Autosomal dominant [1]
HCRT TTU5HJP Limited Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HCRT OTQ4FGI9 No Known Autosomal dominant [1]
EIF3G OT5L1SRY Strong Genetic Variation [3]
PPAN OT0UFQBZ Strong Genetic Variation [3]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.Nat Med. 2000 Sep;6(9):991-7. doi: 10.1038/79690.
3 EIF3G is associated with narcolepsy across ethnicities.Eur J Hum Genet. 2015 Nov;23(11):1573-80. doi: 10.1038/ejhg.2015.4. Epub 2015 Feb 11.