Familial infantile bilateral striatal necrosis
ORPHA:225154DiseaseAutosomal dominant, Autosomal recessive, Mitochondrial inheritanceInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NUP54 | nucleoporin 54 | Disease-causing germline mutation(s) in | gene with protein product | 607607 |
| ADAR | adenosine deaminase RNA specific | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 146920 |
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516060 |
| NUP62 | nucleoporin 62 | Disease-causing germline mutation(s) in | gene with protein product | 605815 |
Фенотипы (HPO)36
Частый (30–79%)23
HP:0002273Tetraparesis
HP:0002376Developmental regression
HP:0003487Babinski sign
HP:0006999Basal ganglia gliosis
HP:0007374Atrophy/Degeneration involving the caudate nucleus
HP:0007811Horizontal pendular nystagmus
HP:0008947Floppy infant
HP:0012758Neurodevelopmental delay
HP:0000648Optic atrophy
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001266Choreoathetosis
HP:0001285Spastic tetraparesis
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0001508Failure to thrive
HP:0002015Dysphagia
HP:0002066Gait ataxia
HP:0002167Abnormality of speech or vocalization
Периодический (5–29%)13
HP:0001276Hypertonia
HP:0001336Myoclonus
HP:0002020Gastroesophageal reflux
HP:0002063Rigidity
HP:0002359Frequent falls
HP:0002396Cogwheel rigidity
HP:0002446Astrocytosis
HP:0002505Loss of ambulation
HP:0003484Upper limb muscle weakness
HP:0006799Basal ganglia cysts
HP:0007340Lower limb muscle weakness
HP:0007688Undetectable light- and dark-adapted electroretinogram
HP:0012697Small basal ganglia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)