PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
ORPHA:438213DiseaseAutosomal dominant, Not applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)86
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0001344Absent speech
HP:0002136Broad-based gait
HP:0008947Floppy infant
HP:0010862Delayed fine motor development
HP:0012758Neurodevelopmental delay
Частый (30–79%)24
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000549Abnormal conjugate eye movement
HP:0000977Soft skin
HP:0001250Seizure
HP:0001262Excessive daytime somnolence
HP:0001270Motor delay
HP:0001332Dystonia
HP:0002019Constipation
HP:0002045Hypothermia
HP:0002104Apnea
HP:0002267Exaggerated startle response
HP:0002307Drooling
HP:0002540Inability to walk
HP:0002791Hypoventilation
HP:0002870Obstructive sleep apnea
HP:0005957Breathing dysregulation
HP:0010536Central sleep apnea
HP:0010863Receptive language delay
HP:0011968Feeding difficulties
HP:0012171Stereotypical hand wringing
HP:0100247Recurrent singultus
HP:0100512Low levels of vitamin D
HP:0100660Dyskinesia
Периодический (5–29%)35
HP:0000119Abnormality of the genitourinary system
HP:0000278Retrognathia
HP:0000293Full cheeks
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0000818Abnormality of the endocrine system
HP:0000924Abnormality of the skeletal system
HP:0000939Osteoporosis
HP:0001336Myoclonus
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001627Abnormal heart morphology
HP:0002002Deep philtrum
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002058Myopathic facies
HP:0002079Hypoplasia of the corpus callosum
HP:0002650Scoliosis
HP:0004305Involuntary movements
HP:0004322Short stature
HP:0007193Generalized tonic-clonic seizures on awakening
HP:0007655Eversion of lateral third of lower eyelids
HP:0007874Almond-shaped palpebral fissure
HP:0009890High anterior hairline
HP:0010818Generalized tonic seizure
HP:0011097Epileptic spasm
HP:0011951Aspiration pneumonia
HP:0012448Delayed myelination
HP:0012704Widened subarachnoid space
HP:0025313Exophoria
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0031622Brown anomaly
HP:0100704Cerebral visual impairment
Очень редкий (1–4%)21
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000139Uterine prolapse
HP:0000543Optic disc pallor
HP:0000787Nephrolithiasis
HP:0000821Hypothyroidism
HP:0000826Precocious puberty
HP:0000870Increased circulating prolactin concentration
HP:0000938Osteopenia
HP:0001331Absent septum pellucidum
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001655Patent foramen ovale
HP:0001903Anemia
HP:0011747Abnormality of the anterior pituitary
HP:0031253Anomalous origin of left subclavian artery
HP:0040303Decreased serum iron
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | 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)