MCID: NRC009
MIFTS: 17

Narcolepsy 1 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Narcolepsy 1

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OMIM:47 Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by... (161400) more...

MalaCards based summary: Narcolepsy 1, is also known as narcolepsy-cataplexy syndrome, and has symptoms including autosomal dominant inheritance, heterogeneous and abnormality of metabolism/homeostasis. An important gene associated with Narcolepsy 1 is HCRT (hypocretin (orexin) neuropeptide precursor). Affiliated tissues include eye and skeletal muscle.

Aliases & Classifications for Narcolepsy 1

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Narcolepsy 1, Aliases & Descriptions:

Name: Narcolepsy 1 47 11 62
 
Narcolepsy-Cataplexy Syndrome 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM47 161400

Related Diseases for Narcolepsy 1

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Symptoms for Narcolepsy 1

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Symptoms by clinical synopsis from OMIM:

161400

Clinical features from OMIM:

161400

HPO human phenotypes related to Narcolepsy 1:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 heterogeneous HP:0001425
3 abnormality of metabolism/homeostasis HP:0001939
4 excessive daytime sleepiness HP:0002189
5 paroxysmal drowsiness HP:0002330
6 abnormal rapid eye movement (rem) sleep HP:0002494
7 hypnagogic hallucinations HP:0002519
8 cataplexy HP:0002524
9 hypnopompic hallucinations HP:0006896

Drugs & Therapeutics for Narcolepsy 1

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Drug clinical trials:

Search ClinicalTrials for Narcolepsy 1

Search NIH Clinical Center for Narcolepsy 1

Genetic Tests for Narcolepsy 1

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Anatomical Context for Narcolepsy 1

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MalaCards organs/tissues related to Narcolepsy 1:

33
Eye, Skeletal muscle

Animal Models for Narcolepsy 1 or affiliated genes

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Publications for Narcolepsy 1

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Variations for Narcolepsy 1

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UniProtKB/Swiss-Prot genetic disease variations for Narcolepsy 1:

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id Symbol AA change Variation ID SNP ID
1HCRTp.Leu16ArgVAR_011633

Clinvar genetic disease variations for Narcolepsy 1:

7
id Gene Variation Type Significance SNP ID Assembly Location
1HCRTNM_001524.1(HCRT): c.47T> G (p.Leu16Arg)single nucleotide variantPathogenicrs104894574GRCh37Chr 17, 40336521: 40336521

Expression for genes affiliated with Narcolepsy 1

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Search GEO for disease gene expression data for Narcolepsy 1.

Pathways for genes affiliated with Narcolepsy 1

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Compounds for genes affiliated with Narcolepsy 1

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GO Terms for genes affiliated with Narcolepsy 1

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Products for genes affiliated with Narcolepsy 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Narcolepsy 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet