Rubinstein-Taybi syndrome due to CREBBP mutations
ORPHA:353277Etiological subtypeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)122
Очень частый (80–99%)16
HP:0000218High palate
HP:0000273Facial grimacing
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001999Abnormal facial shape
HP:0002553Highly arched eyebrow
HP:0005322Prominent nasal septum
HP:0006200Widened distal phalanges
HP:0008897Postnatal growth retardation
HP:0010055Broad hallux
HP:0011304Broad thumb
HP:0012758Neurodevelopmental delay
Частый (30–79%)32
HP:0000028Cryptorchidism
HP:0000077Abnormality of the kidney
HP:0000119Abnormality of the genitourinary system
HP:0000189Narrow palate
HP:0000444Convex nasal ridge
HP:0000478Abnormality of the eye
HP:0000508Ptosis
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000722Compulsive behaviors
HP:0000733Abnormal repetitive mannerisms
HP:0000756Agoraphobia
HP:0001508Failure to thrive
HP:0001513Obesity
HP:0001627Abnormal heart morphology
HP:0002019Constipation
HP:0002205Recurrent respiratory infections
HP:0002870Obstructive sleep apnea
HP:0004322Short stature
HP:0007086Social and occupational deterioration
HP:0008752Laryngeal cartilage malformation
HP:0008872Feeding difficulties in infancy
HP:0009765Low hanging columella
HP:0009834Abnormal proximal phalanx morphology of the hand
HP:0009836Broad distal phalanx of finger
HP:0011087Talon cusp
HP:0012760Reduced social responsiveness
HP:0025269Panic attack
HP:0030680Abnormal cardiovascular system morphology
HP:0100710Impulsivity
HP:0100852Abnormal fear/anxiety-related behavior
HP:0410263Brain imaging abnormality
Периодический (5–29%)55
HP:0000010Recurrent urinary tract infections
HP:0000034Hydrocele testis
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000079Abnormality of the urinary system
HP:0000126Hydronephrosis
HP:0000388Otitis media
HP:0000405Conductive hearing impairment
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000540Hypermetropia
HP:0000559Corneal scarring
HP:0000579Nasolacrimal duct obstruction
HP:0000639Nystagmus
HP:0000668Hypodontia
HP:0000670Carious teeth
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0000718Aggressive behavior
HP:0000752Hyperactivity
HP:0000787Nephrolithiasis
HP:0000932Abnormality of the posterior cranial fossa
HP:0001128Trichiasis
HP:0001159Syndactyly
HP:0001181Adducted thumb
HP:0001252Hypotonia
HP:0001273Abnormal corpus callosum morphology
HP:0001344Absent speech
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0002020Gastroesophageal reflux
HP:0002090Pneumonia
HP:0002308Chiari malformation
HP:0002835Aspiration
HP:0002858Meningioma
HP:0002999Patellar dislocation
HP:0003319Abnormality of the cervical spine
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0007099Chiari type I malformation
HP:0010051Deviation of the hallux
HP:0010442Polydactyly
HP:0010674Abnormality of the curvature of the vertebral column
HP:0011069Supernumerary tooth
HP:0011470Nasogastric tube feeding in infancy
HP:0012448Delayed myelination
HP:0030047Abnormality of lateral ventricle
HP:0031251Abnormal subclavian artery morphology
HP:0031546Cardiac conduction abnormality
HP:0100716Self-injurious behavior
Очень редкий (1–4%)19
HP:0000407Sensorineural hearing impairment
HP:0000518Cataract
HP:0000589Coloboma
HP:0000695Natal tooth
HP:0001250Seizure
HP:0001642Pulmonic stenosis
HP:0001647Bicuspid aortic valve
HP:0001650Aortic valve stenosis
HP:0001680Coarctation of aorta
HP:0002099Asthma
HP:0002341Cervical cord compression
HP:0002353EEG abnormality
HP:0002566Intestinal malrotation
HP:0003396Syringomyelia
HP:0005363Humoral immunodeficiency
HP:0005374Cellular immunodeficiency
HP:0010562Keloids
HP:0010775Vascular ring
HP:0030434Pilomatrixoma
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)