ORPHA:2073
Narcolepsy type 1
Synonyms: Gélineau disease · Hypocretin/orexin deficiency syndrome · Narcolepsy-cataplexy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Narcolepsy type 1 | Gélineau disease · Hypocretin/orexin deficiency syndrome · Narcolepsy-cataplexy |
| fr | Narcolepsie de type 1 | Maladie de Gélineau · Narcolepsie-cataplexie · Syndrome de déficit en hypocrétine/orexine |
| de | Narkolepsie Typ 1 | Gélineau-Krankheit · Hypocretin/Orexin-Mangel · Narkolepsie mit Kataplexie |
| es | Narcolepsia tipo 1 | Enfermedad de Gélineau · Narcolepsia-cataplejía · Narcolepsia-cataplexia · Síndrome de deficiencia de hipocretina/orexina |
| it | Narcolessia tipo 1 | Malattia di Gélineau · Sindrome da deficit di ipocretina/oressina · Narcolessia - cataplessia |
| nl | Narcolepsie type 1 | Hypocretine/orexine-deficiëntiesyndroom · Narcolepsie - kataplexie · Ziekte van Gélineau |
| pt | Narcolepsia tipo 1 | Doença de Gélineau · Narcolepsia-cataplexia |
| pl | Narkolepsja-katalepsja | Choroba Gélineau · Narkolepsja typu 1 |
| cs | Narkolepsie s kataplexií | Gélineauova nemoc |
| uk | Нарколепсія, тип 1 | Хвороба Жиляно · Нарколепсія-катаплексія |
| zh | 发作性睡病1型 | 发作性睡病-猝倒 |
| tr | Narkolepsi tip 1 | Gélineau hastalığı · Narkolepsi-katapleksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161400 | BTNT | validated | |
| OMIM | 605841 | BTNT | validated | |
| OMIM | 609039 | BTNT | validated | |
| OMIM | 612417 | BTNT | validated | |
| OMIM | 612851 | BTNT | validated | |
| OMIM | 614223 | BTNT | validated | |
| OMIM | 614250 | BTNT | validated | |
| ICD-10 | G47.4 | E | specific | validated |
| ICD-11 | 7A20.0 | E | specific | validated |
| MONDO | 0016158 | E | validated | |
| UMLS | C4543926 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:619284Narcolepsy
rare neurological diseases
No children.
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSH | Major susceptibility factor in | Assessed | HGNC:2535 | ENSG00000103811 | 116820 | 15q25.1 | cathepsin H | 23459209[PMID] |
| HCRT | Major susceptibility factor in | Assessed | HGNC:4847 | ENSG00000161610 | 602358 | 17q21.2 | hypocretin neuropeptide precursor | 10973318[PMID]_23643651[PMID] |
| HLA-DQB1 | Major susceptibility factor in | Assessed | HGNC:4944 | ENSG00000179344 | 604305 | 6p21.32 | major histocompatibility complex, class II, DQ beta 1 | 18706091[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 18706091[PMID]_19410508[PMID] |
| MOG | Major susceptibility factor in | Assessed | HGNC:7197 | ENSG00000204655 | 159465 | 6p22.1 | myelin oligodendrocyte glycoprotein | 21907016[PMID] |
| P2RY11 | Major susceptibility factor in | Assessed | HGNC:8540 | ENSG00000244165 | 602697 | 19p13.2 | purinergic receptor P2Y11 | 24204295[PMID] |
| TNFSF4 | Major susceptibility factor in | Assessed | HGNC:11934 | ENSG00000117586 | 603594 | 1q25.1 | TNF superfamily member 4 | 23459209[PMID] |
| ZNF365 | Major susceptibility factor in | Assessed | HGNC:18194 | ENSG00000138311 | 607818 | 10q21.2 | zinc finger protein 365 | 24204295[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Europe | Value and class | Validated | 24849861[PMID]_[EXPERT] |
| Annual incidence | 1-9 / 1 000 000 | 0.74 / 100 000 | United States | Value and class | Validated | 11902429[PMID] |
| Point prevalence | 1-5 / 10 000 | 22 / 100 000 | Norway | Value and class | Validated | 19456307[PMID]_24849861[PMID] |
| Point prevalence | 1-5 / 10 000 | 26 / 100 000 | Finland | Value and class | Validated | 8210228[PMID]_24849861[PMID] |
| Point prevalence | 1-5 / 10 000 | 34 / 100 000 | China | Value and class | Validated | 11164060[PMID]_24849861[PMID] |
| Point prevalence | 1-5 / 10 000 | 28.9 / 100 000 | United States | Value and class | Not yet validated | 11902429[PMID]_19013100[PMID]_24849861[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 40 / 100 000 | United Kingdom | Value and class | Validated | 8894197[PMID]_24849861[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
30 annotations · validated 2023-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002524 | Cataplexy | Pathognomonic sign |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0000738 | Hallucinations | |
| HP:0002360 | Sleep abnormality | |
| HP:0010534 | Transient global amnesia | |
| Frequent (79-30%) | ||
| HP:0007686 | Abnormal pupillary function | |
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002019 | Constipation | |
| HP:0002307 | Drooling | |
| HP:0030014 | Female sexual dysfunction | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000822 | Hypertension | |
| HP:0002519 | Hypnagogic hallucinations | |
| HP:0006896 | Hypnopompic hallucinations | |
| HP:0040307 | Male sexual dysfunction | |
| HP:0000017 | Nocturia | |
| HP:0025235 | Non-rapid eye movement parasomnia | |
| HP:0012452 | Restless legs | |
| Occasional (29-5%) | ||
| HP:0000716 | Depression | |
| HP:0002076 | Migraine | |
| HP:0001513 | Obesity | |
| HP:0000826 | Precocious puberty | |
| HP:0000711 | Restlessness | |
| HP:0010535 | Sleep apnea | |
| HP:0025233 | Sleep paralysis | |
| HP:0001350 | Slurred speech | |
| HP:0001279 | Syncope | |
| Very rare (<4-1%) | ||
| HP:0000709 | Psychosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 36949858[PMID]_35624073[PMID]_29083681[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2073
- This record as JSON: /data/d/2073.json