MCID: NRC017
MIFTS: 18

Narcolepsy 7

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

Aliases & Classifications for Narcolepsy 7

MalaCards integrated aliases for Narcolepsy 7:

Name: Narcolepsy 7 57 75 29 13 6 73
Nrclp7 57 75
Narcolepsy-Cataplexy Syndrome 7 75
Narcoleptic Syndrome 7 75
Narcolepsy, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
narcolepsy 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614250
MedGen 42 C3280266
MeSH 44 D009290
UMLS 73 C3280266

Summaries for Narcolepsy 7

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Endocrine Features:
type 2 diabetes (in some)

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

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


Clinical features from OMIM:

614250

Human phenotypes related to Narcolepsy 7:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 excessive daytime sleepiness 32 HP:0002189
3 cataplexy 32 HP:0002524
4 narcolepsy 32 HP:0030050

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:

41
Eye

Publications for Narcolepsy 7

Variations for Narcolepsy 7

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

75
# 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 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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