NRCLP7
MCID: NRC017
MIFTS: 22

Narcolepsy 7 (NRCLP7)

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

Aliases & Classifications for Narcolepsy 7

MalaCards integrated aliases for Narcolepsy 7:

Name: Narcolepsy 7 57 72 29 13 6 70
Nrclp7 57 72
Narcolepsy-Cataplexy Syndrome 7 72
Narcoleptic Syndrome 7 72
Narcolepsy, Type 7 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (as of september 2011)
onset in late teens to early forties


HPO:

31
narcolepsy 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614250
OMIM Phenotypic Series 57 PS161400
MeSH 44 D009290
MedGen 41 C3280266
UMLS 70 C3280266

Summaries for Narcolepsy 7

UniProtKB/Swiss-Prot : 72 Narcolepsy 7: Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed.

MalaCards based summary : Narcolepsy 7, is also known as nrclp7, and has symptoms including excessive daytime somnolence An important gene associated with Narcolepsy 7 is MOG (Myelin Oligodendrocyte Glycoprotein). Affiliated tissues include eye and brain, and related phenotypes are type ii diabetes mellitus and obesity

More information from OMIM: 614250 PS161400

Related Diseases for Narcolepsy 7

Symptoms & Phenotypes for Narcolepsy 7

Human phenotypes related to Narcolepsy 7:

31
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 31 HP:0005978
2 obesity 31 HP:0001513
3 cataplexy 31 HP:0002524
4 narcolepsy 31 HP:0030050
5 excessive daytime somnolence 31 HP:0001262

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Weight:
obesity

Laboratory Abnormalities:
decreased levels of csf hypocretin (hcrt, )

Neurologic Central Nervous System:
cataplexy
narcolepsy
excessive daytime sleepiness
decreased sleep latency

Endocrine Features:
type 2 diabetes (in some)

Clinical features from OMIM®:

614250 (Updated 20-May-2021)

UMLS symptoms related to Narcolepsy 7:


excessive daytime somnolence

Drugs & Therapeutics for Narcolepsy 7

Search Clinical Trials , NIH Clinical Center for Narcolepsy 7

Genetic Tests for Narcolepsy 7

Genetic tests related to Narcolepsy 7:

# Genetic test Affiliating Genes
1 Narcolepsy 7 29 MOG

Anatomical Context for Narcolepsy 7

MalaCards organs/tissues related to Narcolepsy 7:

40
Eye, Brain

Publications for Narcolepsy 7

Articles related to Narcolepsy 7:

# Title Authors PMID Year
1
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. 57 6
21907016 2011
2
Eating disorder and metabolism in narcoleptic patients. 61
17969460 2007
3
Prevalence and consequences of sleep disorders in traumatic brain injury. 61
17694722 2007
4
Possible confusion between primary hypersomnia and adult attention-deficit/hyperactivity disorder. 61
16854470 2006
5
Familial aspects of narcolepsy-cataplexy in the Czech Republic. 61
9456468 1997

Variations for Narcolepsy 7

ClinVar genetic disease variations for Narcolepsy 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MOG NM_206809.4(MOG):c.398C>G (p.Ser133Cys) SNV Pathogenic 29798 rs387906655 GRCh37: 6:29627405-29627405
GRCh38: 6:29659628-29659628
2 MOG NM_206809.4(MOG):c.88+18dup Duplication Benign 931819 GRCh37: 6:29625084-29625085
GRCh38: 6:29657307-29657308

UniProtKB/Swiss-Prot genetic disease variations for Narcolepsy 7:

72
# Symbol AA change Variation ID SNP ID
1 MOG p.Ser133Cys VAR_066415 rs387906655

Expression for Narcolepsy 7

Search GEO for disease gene expression data for Narcolepsy 7.

Pathways for Narcolepsy 7

GO Terms for Narcolepsy 7

Sources for Narcolepsy 7

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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