Congenital insensitivity to pain with severe intellectual disability
ORPHA:453510DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)29
Частый (30–79%)11
HP:0000486Strabismus
HP:0000491Keratitis
HP:0000742Self-mutilation
HP:0001328Specific learning disability
HP:0002188Delayed CNS myelination
HP:0002754Osteomyelitis
HP:0002757Recurrent fractures
HP:0007021Pain insensitivity
HP:0008000Decreased corneal reflex
HP:0010830Impaired tactile sensation
HP:0011344Severe global developmental delay
Периодический (5–29%)18
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000448Prominent nose
HP:0001518Small for gestational age
HP:0001562Oligohydramnios
HP:0001772Talipes equinovalgus
HP:0001838Rocker bottom foot
HP:0001999Abnormal facial shape
HP:0002069Bilateral tonic-clonic seizure
HP:0002982Tibial bowing
HP:0008780Congenital bilateral hip dislocation
HP:0008947Floppy infant
HP:0009826Limb undergrowth
HP:0010841Multifocal epileptiform discharges
HP:0011470Nasogastric tube feeding in infancy
HP:0012044Seesaw nystagmus
HP:0012745Short palpebral fissure
HP:0200020Corneal erosion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)