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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Narcolepsy (D009290)
..Starting node ..Narcolepsy 1 (C563534)
Child Nodes:
Sister Nodes:
..Cataplexy (D002385)
..Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..Disseminated Sclerosis with Narcolepsy (C565621)
..Irresistible sleepiness, cataplexy and onset of sleep in desynchronized phase (C538497)
..Narcolepsy 1 (C563534)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7769

Name:

Narcolepsy 1

Definition:

Alternative IDs:

OMIM:161400

ParentIDs:

MESH:D009290

TreeNumbers:

C10.886.425.800.200.750/C563534 |F03.870.400.800.200.750/C563534

Synonyms:

Narcoleptic Syndrome 1 |NARCOLEPTIC SYNDROME 1 CATAPLEXY, INCLUDED |NRCLP1

Slim Mappings:

Mental disorder|Nervous system disease

Reference:

MedGen: C563534
MeSH: C563534
OMIM: 161400;

Genes: HCRT;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002494	Abnormal rapid eye movement sleep
3	HP:0002524	Cataplexy
4	HP:0001425	Heterogeneous
5	HP:0002519	Hypnagogic hallucinations
6	HP:0006896	Hypnopompic hallucinations
7	HP:0030050	Narcolepsy
8	HP:0002189	obsolete Excessive daytime sleepiness
9	HP:0002330	Paroxysmal drowsiness

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001524.1(HCRT):c.47T>G (p.Leu16Arg)	3060	HCRT	Pathogenic	104894574	RCV000007726;	N	MedGen:C1834372,OMIM:161400	17	40336521	40336521	NM_001524.1:c.47T>G	NP_001515.1:p.Leu16Arg	NC_000017.10:g.40336521A>C	OMIM Allelic Variant:602358.0001	C1834372 161400 Narcolepsy 1