Narcolepsy type 1
ORPHA:2073DiseaseUnknownAdolescent, Adult, Childhood
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HCRT | hypocretin neuropeptide precursor | Major susceptibility factor in | gene with protein product | 602358 |
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | Major susceptibility factor in | gene with protein product | 142857 |
| HLA-DQB1 | major histocompatibility complex, class II, DQ beta 1 | Major susceptibility factor in | gene with protein product | 604305 |
| MOG | myelin oligodendrocyte glycoprotein | Major susceptibility factor in | gene with protein product | 159465 |
| TNFSF4 | TNF superfamily member 4 | Major susceptibility factor in | gene with protein product | 603594 |
| P2RY11 | purinergic receptor P2Y11 | Major susceptibility factor in | gene with protein product | 602697 |
| ZNF365 | zinc finger protein 365 | Major susceptibility factor in | gene with protein product | 607818 |
| CTSH | cathepsin H | Major susceptibility factor in | gene with protein product | 116820 |
Фенотипы (HPO)30
Очень частый (80–99%)5
HP:0000738Hallucinations
HP:0001262Excessive daytime somnolence
HP:0002360Sleep abnormality
HP:0002524Cataplexy
HP:0010534Transient global amnesia
Частый (30–79%)15
HP:0007018Attention deficit hyperactivity disorder
HP:0007686Abnormal pupillary function
HP:0012452Restless legs
HP:0025235Non-rapid eye movement parasomnia
HP:0030014Female sexual dysfunction
HP:0040307Male sexual dysfunction
HP:0000017Nocturia
HP:0000739Anxiety
HP:0000822Hypertension
HP:0000975Hyperhidrosis
HP:0002019Constipation
HP:0002307Drooling
HP:0002494Abnormal rapid eye movement sleep
HP:0002519Hypnagogic hallucinations
HP:0006896Hypnopompic hallucinations
Периодический (5–29%)9
HP:0000711Restlessness
HP:0000716Depression
HP:0000826Precocious puberty
HP:0001279Syncope
HP:0001350Slurred speech
HP:0001513Obesity
HP:0002076Migraine
HP:0010535Sleep apnea
HP:0025233Sleep paralysis
Очень редкий (1–4%)1
HP:0000709Psychosis
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.74 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 22 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 26 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | 34 | China | Value and class |
| Point prevalence | 1-5 / 10 000 | 28.9 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 40 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)