PMP22-RAI1 contiguous gene duplication syndrome
ORPHA:477817Malformation syndromeUnknownChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)6
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0031936Delayed ability to walk
Частый (30–79%)14
HP:0009027Foot dorsiflexor weakness
HP:0012210Abnormal renal morphology
HP:0012450Chronic constipation
HP:0200101Decreased/absent ankle reflexes
HP:0410263Brain imaging abnormality
HP:0000708Atypical behavior
HP:0001382Joint hypermobility
HP:0001531Failure to thrive in infancy
HP:0001627Abnormal heart morphology
HP:0001760Abnormal foot morphology
HP:0002360Sleep abnormality
HP:0002460Distal muscle weakness
HP:0002936Distal sensory impairment
HP:0003693Distal amyotrophy
Периодический (5–29%)26
HP:0000219Thin upper lip vermilion
HP:0000319Smooth philtrum
HP:0000325Triangular face
HP:0000343Long philtrum
HP:0000377Abnormal pinna morphology
HP:0000445Wide nose
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000762Decreased nerve conduction velocity
HP:0000763Sensory neuropathy
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001647Bicuspid aortic valve
HP:0001655Patent foramen ovale
HP:0001719Double outlet right ventricle
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001852Sandal gap
HP:0002136Broad-based gait
HP:0002623Overriding aorta
HP:0003380Decreased number of peripheral myelinated nerve fibers
HP:0003396Syringomyelia
HP:00046912-3 toe syndactyly
HP:0004942Aortic aneurysm
HP:0005301Persistent left superior vena cava
HP:0008081Pes valgus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)