GAPO syndrome
ORPHA:2067Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)24
HP:0001382Joint hypermobility
HP:0000232Everted lower lip vermilion
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000653Sparse eyelashes
HP:0000684Delayed eruption of teeth
HP:0000974Hyperextensible skin
HP:0001596Alopecia
HP:0002007Frontal bossing
HP:0002234Early balding
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0007495Prematurely aged appearance
HP:0009891Underdeveloped supraorbital ridges
HP:0009928Thick nasal alae
HP:0011800Midface retrusion
HP:0045075Sparse eyebrow
HP:0100540Palpebral edema
Частый (30–79%)13
HP:0000174Abnormal palate morphology
HP:0000303Mandibular prognathia
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000563Keratoconus
HP:0000765Abnormal thorax morphology
HP:0000889Abnormality of the clavicle
HP:0000944Abnormal metaphysis morphology
HP:0001537Umbilical hernia
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0003312Abnormal form of the vertebral bodies
HP:0010609Skin tags
HP:0100659Abnormality of the cerebral vasculature
Периодический (5–29%)17
HP:0000135Hypogonadism
HP:0000141Amenorrhea
HP:0000365Hearing impairment
HP:0000453Choanal atresia
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000787Nephrolithiasis
HP:0000798Oligozoospermia
HP:0001028Hemangioma
HP:0001053Hypopigmented skin patches
HP:0001510Growth delay
HP:0001555Asymmetry of the thorax
HP:0002516Increased intracranial pressure
HP:0002621Atherosclerosis
HP:0004331Decreased skull ossification
HP:0100607Dysmenorrhea
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | 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)