Legius syndrome
ORPHA:137605Malformation syndromeAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)1
HP:0007565Multiple cafe-au-lait spots
Частый (30–79%)4
HP:0000708Atypical behavior
HP:0000997Axillary freckling
HP:0001328Specific learning disability
HP:0030052Inguinal freckling
Периодический (5–29%)6
HP:0000256Macrocephaly
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0000766Abnormal sternum morphology
HP:0001012Multiple lipomas
HP:0004322Short stature
Очень редкий (1–4%)26
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000750Delayed speech and language development
HP:0000787Nephrolithiasis
HP:0001114Xanthelasma
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001332Dystonia
HP:0001634Mitral valve prolapse
HP:0001642Pulmonic stenosis
HP:0002650Scoliosis
HP:0002667Nephroblastoma
HP:0004209Clinodactyly of the 5th finger
HP:0004845Acute monocytic leukemia
HP:0006671Paroxysmal atrial tachycardia
HP:0007018Attention deficit hyperactivity disorder
HP:0007099Chiari type I malformation
HP:0009588Vestibular schwannoma
HP:0010442Polydactyly
HP:0030358Non-small cell lung carcinoma
HP:0032077Male urethral meatus stenosis
HP:0100245Desmoid tumors
HP:0100543Cognitive impairment
HP:0100615Ovarian neoplasm
HP:0410263Brain imaging abnormality
Исключён (0%)5
HP:0001067Neurofibromas
HP:0009734Optic nerve glioma
HP:0009737Lisch nodules
HP:0100006Neoplasm of the central nervous system
HP:0100252Diaphyseal dysplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)