Hereditary hyperekplexia
ORPHA:3197DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ATAD1 | ATPase family AAA domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 614452 |
| GLRA1 | glycine receptor alpha 1 | Disease-causing germline mutation(s) in | gene with protein product | 138491 |
| GLRB | glycine receptor beta | Disease-causing germline mutation(s) in | gene with protein product | 138492 |
| GPHN | gephyrin | Disease-causing germline mutation(s) in | gene with protein product | 603930 |
| SLC6A5 | solute carrier family 6 member 5 | Disease-causing germline mutation(s) in | gene with protein product | 604159 |
Фенотипы (HPO)21
Очень частый (80–99%)13
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001336Myoclonus
HP:0001347Hyperreflexia
HP:0001387Joint stiffness
HP:0002020Gastroesophageal reflux
HP:0002036Hiatus hernia
HP:0002063Rigidity
HP:0002380Fasciculations
HP:0003552Muscle stiffness
HP:0100022Abnormality of movement
HP:0100633Esophagitis
Частый (30–79%)4
HP:0001288Gait disturbance
HP:0001537Umbilical hernia
HP:0002360Sleep abnormality
HP:0100790Hernia
Периодический (5–29%)4
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001373Joint dislocation
HP:0002827Hip dislocation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)