5q22 microdeletion syndrome
ORPHA:261584DiseaseNot applicableAdult
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)1
HP:0005227Adenomatous colonic polyposis
Частый (30–79%)20
HP:0000160Narrow mouth
HP:0000215Thick upper lip vermilion
HP:0000218High palate
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000455Broad nasal tip
HP:0000494Downslanted palpebral fissures
HP:0001256Intellectual disability, mild
HP:0001891Iron deficiency anemia
HP:0002234Early balding
HP:0002584Intestinal bleeding
HP:0004482Relative macrocephaly
HP:0004783Duodenal polyposis
HP:0007649Congenital hypertrophy of retinal pigment epithelium
HP:0010522Dyslexia
HP:0011078Abnormality of canine
HP:0200040Epidermoid cyst
Периодический (5–29%)11
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000954Single transverse palmar crease
HP:0001115Posterior polar cataract
HP:0001290Generalized hypotonia
HP:0002064Spastic gait
HP:0002162Low posterior hairline
HP:0003003Colon cancer
HP:0006536Airway obstruction
HP:0007766Optic disc hypoplasia
HP:0100245Desmoid tumors
Очень редкий (1–4%)3
HP:0000077Abnormality of the kidney
HP:0002884Hepatoblastoma
HP:0100246Osteoma
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)