MCID: NRC011
MIFTS: 16

Narcolepsy 3

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

Aliases & Classifications for Narcolepsy 3

MalaCards integrated aliases for Narcolepsy 3:

Name: Narcolepsy 3 57 29 13 73
Nrclp3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
narcolepsy 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 609039
MedGen 42 C1836907
UMLS 73 C1836907

Summaries for Narcolepsy 3

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

Description from OMIM: 609039

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 11.2

Symptoms & Phenotypes for Narcolepsy 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
cataplexy, paroxysmal weakness or paralysis
cataplexy often triggered by strong emotions
excessive daytime sleepiness
attacks of disabling daytime drowsiness and low alertness
abnormal rapid eye movement (rem) sleep
more

Clinical features from OMIM:

609039

Human phenotypes related to Narcolepsy 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 excessive daytime sleepiness 32 HP:0002189
2 paroxysmal drowsiness 32 HP:0002330
3 abnormal rapid eye movement sleep 32 HP:0002494
4 hypnagogic hallucinations 32 HP:0002519
5 cataplexy 32 HP:0002524
6 narcolepsy 32 HP:0030050

UMLS symptoms related to Narcolepsy 3:


hallucinations, hypnagogic, excessive daytime somnolence

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:

41
Eye

Publications for Narcolepsy 3

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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