Narcolepsy-cataplexy Syndrome

Description

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

Clinical Features

Top most frequent phenotypes and symptoms related to Narcolepsy-cataplexy Syndrome

  • Obesity
  • Abnormality of the eye
  • Sleep disturbance
  • Syncope
  • Hallucinations
  • Abnormality of vision
  • Slurred speech
  • Cataplexy
  • Excessive daytime sleepiness
  • Abnormal rapid eye movement sleep
And another 1 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Narcolepsy-cataplexy Syndrome have a estimated prevalence of 25 per 100k worldwide.


Mendelian

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Narcolepsy-cataplexy Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
13 %
TNFSF4.

By Fulgent Genetics Fulgent Genetics in United States.

TNFSF4
Specificity
100 %
Genes
13 %
Immune Report Card.

By OmniSeq, Inc. in United States.

STAT1, TGFB1, FOXP3, CCL2, CSF1R, CD40, CD40LG, CD27, CTLA4, ICOS, MS4A1, DDX58, IL10, IFNG, IL1B, CD8A, TNFSF4, TNF, CD4, CD244 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
13 %
P2RY11.

By Fulgent Genetics Fulgent Genetics in United States.

P2RY11
Specificity
100 %
Genes
13 %
MOG.

By Fulgent Genetics Fulgent Genetics in United States.

MOG
Specificity
100 %
Genes
13 %
CTSH.

By Fulgent Genetics Fulgent Genetics in United States.

CTSH
Specificity
100 %
Genes
13 %
Narcolepsy 1 (sequence analysis of HCRT gene).

By CGC Genetics in Portugal.

HCRT
Specificity
100 %
Genes
13 %
Narcolepsy.

By Centogene AG - the Rare Disease Company in Germany.

HCRT
Specificity
100 %
Genes
13 %
Single gene testing HCRT.

By CeGaT GmbH in Germany.

HCRT
Specificity
100 %
Genes
13 %
HCRT.

By Fulgent Genetics Fulgent Genetics in United States.

HCRT
Specificity
100 %
Genes
13 %
ZNF365.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF365
Specificity
100 %
Genes
13 %
Narcolepsy Risk Factor.

By Bioscientia GmbH Center for Human Genetics in Germany.

HLA-DQB1, HLA-DRB1
Specificity
100 %
Genes
25 %
HLA-DRB1.

By Fulgent Genetics Fulgent Genetics in United States.

HLA-DRB1
Specificity
100 %
Genes
13 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %
Narcolepsy (HLA-DQB1 06:02) Genotyping.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HLA-DQB1
Specificity
100 %
Genes
13 %
Celiac Disease (HLA-DQ2 and HLA-DQ8) Genotyping.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HLA-DQB1, HLA-DQA1
Specificity
50 %
Genes
13 %
Celiac disease (HLA-DQ/DR).

By CGC Genetics in Portugal.

HLA-DQB1, HLA-DQA1
Specificity
50 %
Genes
13 %
Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8).

By CGC Genetics in Portugal.

HLA-DQB1, HLA-DQA1, MCM6
Specificity
34 %
Genes
13 %
Celiac Disease via Next Generation Sequencing HLA Typing.

By PreventionGenetics PreventionGenetics in United States.

HLA-DQB1, HLA-DQA1
Specificity
50 %
Genes
13 %
HLA DQ2/DQ8.

By Furst Medical Laboratories, FurstNAT in Norway.

HLA-DQB1, HLA-DQA1
Specificity
50 %
Genes
13 %
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping.

By Molecular Genetics Laboratory Genetrack Biolabs Inc. in Canada.

HLA-DQB1, HLA-DQA1
Specificity
50 %
Genes
13 %

Alternate names

Narcolepsy-cataplexy Syndrome Is also known as gélineau disease.


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