ORPHA:83465
Narcolepsy type 2
Synonyms: Narcolepsy without 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 sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Narcolepsy type 2 | Narcolepsy without cataplexy |
| fr | Narcolepsie de type 2 | Narcolepsie sans cataplexie |
| de | Narkolepsie Typ 2 | Narkolepsie ohne Kataplexie |
| es | Narcolepsia tipo 2 | Narcolepsia sin cataplejía · Narcolepsia sin cataplexia |
| it | Narcolessia tipo 2 | Narcolessia senza cataplessia |
| nl | Narcolepsie type 2 | Narcolepsie zonder kataplexie |
| pt | Narcolepsia tipo 2 | Narcolepsia sem cataplexia |
| pl | Narkolepsja bez katalepsji | = en |
| cs | Narkolepsie bez kataplexie | = en |
| uk | Нарколепсія, тип 2 | Нарколепсія без катаплексії |
| zh | 发作性睡病2型 | 发作性睡病不伴猝倒 |
| tr | Narkolepsi tip 2 | Katapleksi olmadan narkolepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G47.4 | NTBT | attributed | validated |
| ICD-11 | 7A20.1 | E | specific | validated |
| MONDO | 0019371 | E | validated | |
| UMLS | C1456240 | 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HCRT | Candidate gene tested in | Not yet 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]_21345702[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] |
| ZNF365 | Major susceptibility factor in | Assessed | HGNC:18194 | ENSG00000138311 | 607818 | 10q21.2 | zinc finger protein 365 | 24204295[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 20.3 / 100 000 | United States | Value and class | Validated | 11902429[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001262 | Excessive daytime somnolence | |
| HP:0000738 | Hallucinations | |
| HP:0100785 | Insomnia | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83465
- This record as JSON: /data/d/83465.json