NRCLP3
MCID: NRC011
MIFTS: 17

Narcolepsy 3 (NRCLP3)

Categories: Eye diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Narcolepsy 3

MalaCards integrated aliases for Narcolepsy 3:

Name: Narcolepsy 3 57 29 13 71
Nrclp3 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
variable age of onset (childhood to adulthood)


HPO:

31
narcolepsy 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 609039
OMIM Phenotypic Series 57 PS161400
MedGen 41 C1836907
UMLS 71 C1836907

Summaries for Narcolepsy 3

MalaCards based summary : Narcolepsy 3, also known as nrclp3, is related to narcolepsy, and has symptoms including excessive daytime somnolence and hallucinations, hypnagogic. An important gene associated with Narcolepsy 3 is NRCLP3 (Narcolepsy 3). Affiliated tissues include eye, and related phenotypes are cataplexy and narcolepsy

More information from OMIM: 609039 PS161400

Related Diseases for Narcolepsy 3

Diseases in the Narcolepsy family:

Narcolepsy 1 Narcolepsy 2
Narcolepsy 3 Narcolepsy 4
Narcolepsy 5 Narcolepsy 6
Narcolepsy 7

Diseases related to Narcolepsy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 narcolepsy 11.1

Symptoms & Phenotypes for Narcolepsy 3

Human phenotypes related to Narcolepsy 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataplexy 31 HP:0002524
2 narcolepsy 31 HP:0030050
3 excessive daytime somnolence 31 HP:0001262
4 abnormal rapid eye movement sleep 31 HP:0002494
5 paroxysmal drowsiness 31 HP:0002330
6 hypnagogic hallucinations 31 HP:0002519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
excessive daytime sleepiness
hypnagogic hallucinations
cataplexy, paroxysmal weakness or paralysis
cataplexy often triggered by strong emotions
attacks of disabling daytime drowsiness and low alertness
more

Clinical features from OMIM®:

609039 (Updated 05-Mar-2021)

UMLS symptoms related to Narcolepsy 3:


excessive daytime somnolence, hallucinations, hypnagogic

Drugs & Therapeutics for Narcolepsy 3

Search Clinical Trials , NIH Clinical Center for Narcolepsy 3

Genetic Tests for Narcolepsy 3

Genetic tests related to Narcolepsy 3:

# Genetic test Affiliating Genes
1 Narcolepsy 3 29

Anatomical Context for Narcolepsy 3

MalaCards organs/tissues related to Narcolepsy 3:

40
Eye

Publications for Narcolepsy 3

Articles related to Narcolepsy 3:

# Title Authors PMID Year
1
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q. 57
15349865 2004
2
Abundant REM sleep in a patient with Alzheimer's disease. 61
2381539 1990

Variations for Narcolepsy 3

Expression for Narcolepsy 3

Search GEO for disease gene expression data for Narcolepsy 3.

Pathways for Narcolepsy 3

GO Terms for Narcolepsy 3

Sources for Narcolepsy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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