NRCLP7
MCID: NRC017
MIFTS: 18

Narcolepsy 7 (NRCLP7)

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

Aliases & Classifications for Narcolepsy 7

MalaCards integrated aliases for Narcolepsy 7:

Name: Narcolepsy 7 58 76 30 13 6 74
Nrclp7 58 76
Narcolepsy-Cataplexy Syndrome 7 76
Narcoleptic Syndrome 7 76
Narcolepsy, Type 7 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
narcolepsy 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614250
MeSH 45 D009290
MedGen 43 C3280266
UMLS 74 C3280266

Summaries for Narcolepsy 7

UniProtKB/Swiss-Prot : 76 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 related phenotypes are obesity and excessive daytime sleepiness

Description from OMIM: 614250

Related Diseases for Narcolepsy 7

Symptoms & Phenotypes for Narcolepsy 7

Human phenotypes related to Narcolepsy 7:

33
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 excessive daytime sleepiness 33 HP:0002189
3 cataplexy 33 HP:0002524
4 narcolepsy 33 HP:0030050

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

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

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

Endocrine Features:
type 2 diabetes (in some)

Clinical features from OMIM:

614250

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 30 MOG

Anatomical Context for Narcolepsy 7

MalaCards organs/tissues related to Narcolepsy 7:

42
Eye

Publications for Narcolepsy 7

Articles related to Narcolepsy 7:

# Title Authors Year
1
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. ( 21907016 )
2011

Variations for Narcolepsy 7

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

76
# Symbol AA change Variation ID SNP ID
1 MOG p.Ser133Cys VAR_066415 rs387906655

ClinVar genetic disease variations for Narcolepsy 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MOG NM_002433.4(MOG): c.398C> G (p.Ser133Cys) single nucleotide variant Pathogenic rs387906655 GRCh37 Chromosome 6, 29627405: 29627405
2 MOG NM_002433.4(MOG): c.398C> G (p.Ser133Cys) single nucleotide variant Pathogenic rs387906655 GRCh38 Chromosome 6, 29659628: 29659628

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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