Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
ORPHA:363700Etiological subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)71
Очень частый (80–99%)2
HP:0000316Hypertelorism
HP:0000957Cafe-au-lait spot
Частый (30–79%)22
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000475Broad neck
HP:0000924Abnormality of the skeletal system
HP:0000997Axillary freckling
HP:0001176Large hands
HP:0001252Hypotonia
HP:0001328Specific learning disability
HP:0001382Joint hypermobility
HP:0001627Abnormal heart morphology
HP:0001833Long foot
HP:0001999Abnormal facial shape
HP:0002650Scoliosis
HP:0007018Attention deficit hyperactivity disorder
HP:0009088Speech articulation difficulties
HP:0009737Lisch nodules
HP:0011407Proportionate tall stature
HP:0012062Bone cyst
HP:0012758Neurodevelopmental delay
HP:0030052Inguinal freckling
HP:0100698Subcutaneous neurofibromas
HP:0410263Brain imaging abnormality
Периодический (5–29%)26
HP:0000218High palate
HP:0000276Long face
HP:0000286Epicanthus
HP:0000324Facial asymmetry
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000601Hypotelorism
HP:0000767Pectus excavatum
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001761Pes cavus
HP:0002057Prominent glabella
HP:0002079Hypoplasia of the corpus callosum
HP:0002857Genu valgum
HP:0004322Short stature
HP:0006479Abnormality of the dental pulp
HP:0009734Optic nerve glioma
HP:0009735Spinal neurofibromas
HP:0010794Impaired visuospatial constructive cognition
HP:0012210Abnormal renal morphology
HP:0012471Thick vermilion border
HP:0100697Neurofibrosarcoma
HP:0430022Abnormality of the sphenoid sinus
Очень редкий (1–4%)21
HP:0000126Hydronephrosis
HP:0000238Hydrocephalus
HP:0000246Sinusitis
HP:0001028Hemangioma
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001634Mitral valve prolapse
HP:0001639Hypertrophic cardiomyopathy
HP:0001642Pulmonic stenosis
HP:0001653Mitral regurgitation
HP:0001655Patent foramen ovale
HP:0002315Headache
HP:0002751Kyphoscoliosis
HP:0002992Abnormality of tibia morphology
HP:0003307Hyperlordosis
HP:0008678Renal hypoplasia/aplasia
HP:0012733Macule
HP:0020035Lower limb dysmetria
HP:0030426Ossifying fibroma
HP:0032252Granuloma
HP:0100008Schwannoma
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)