Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
ORPHA:436174DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)24
HP:0000160Narrow mouth
HP:0000399Prelingual sensorineural hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000408Progressive sensorineural hearing impairment
HP:0000518Cataract
HP:0000574Thick eyebrow
HP:0000519Developmental cataract
HP:0000824Decreased response to growth hormone stimulation test
HP:0001270Motor delay
HP:0002827Hip dislocation
HP:0004322Short stature
HP:0002571Achalasia
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002655Spondyloepiphyseal dysplasia
HP:0002857Genu valgum
HP:0009830Peripheral neuropathy
HP:0003162Fasting hypoglycemia
HP:0003416Spinal canal stenosis
HP:0005659Thoracic kyphoscoliosis
HP:0007470Periarticular subcutaneous nodules
HP:0008445Cervical spinal canal stenosis
HP:0008619Bilateral sensorineural hearing impairment
HP:0011220Prominent forehead
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)