Autosomal dominant dopa-responsive dystonia
ORPHA:98808DiseaseAutosomal dominant, Not applicableChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GCH1 | GTP cyclohydrolase 1 | Disease-causing germline mutation(s) in | gene with protein product | 600225 |
| NR4A2 | nuclear receptor subfamily 4 group A member 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601828 |
| IMPDH2 | inosine monophosphate dehydrogenase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 146691 |
Фенотипы (HPO)34
Частый (30–79%)22
HP:0000365Hearing impairment
HP:0000473Torticollis
HP:0000716Depression
HP:0000739Anxiety
HP:0001251Ataxia
HP:0001300Parkinsonism
HP:0001348Brisk reflexes
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002063Rigidity
HP:0002066Gait ataxia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002174Postural tremor
HP:0002360Sleep abnormality
HP:0002395Lower limb hyperreflexia
HP:0002451Limb dystonia
HP:0003487Babinski sign
HP:0003785Decreased CSF homovanillic acid concentration
HP:0004373Focal dystonia
HP:0008297Transient hyperphenylalaninemia
HP:0012378Fatigue
HP:0045007Abnormality of the substantia nigra
Периодический (5–29%)11
HP:0002067Bradykinesia
HP:0000666Horizontal nystagmus
HP:0000722Compulsive behaviors
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0001370Rheumatoid arthritis
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002601Paresis of extensor muscles of the big toe
HP:0002650Scoliosis
HP:0005876Progressive flexion contractures
HP:0007325Generalized dystonia
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)