17q11 microdeletion syndrome
ORPHA:97685Clinical subtypeNot applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)94
Очень частый (80–99%)4
HP:0012760Reduced social responsiveness
HP:0000736Short attention span
HP:0001480Freckling
HP:0007565Multiple cafe-au-lait spots
Частый (30–79%)21
HP:0000271Abnormality of the face
HP:0000529Progressive visual loss
HP:0000708Atypical behavior
HP:0000822Hypertension
HP:0001072Thickened skin
HP:0001328Specific learning disability
HP:0001627Abnormal heart morphology
HP:0001999Abnormal facial shape
HP:0002076Migraine
HP:0002315Headache
HP:0002354Memory impairment
HP:0002360Sleep abnormality
HP:0002463Language impairment
HP:0004562Beaking of vertebral bodies T12-L3
HP:0009732Plexiform neurofibroma
HP:0009737Lisch nodules
HP:0011442Abnormality of central motor function
HP:0025105Nevus anemicus
HP:0100585Telangiectasia of the skin
HP:0200034Papule
HP:0410263Brain imaging abnormality
Периодический (5–29%)52
HP:0000337Broad forehead
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0000610Abnormal choroid morphology
HP:0000618Blindness
HP:0000729Autistic behavior
HP:0000823Delayed puberty
HP:0000925Abnormality of the vertebral column
HP:0000935Thickened cortex of long bones
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001034Hypermelanotic macule
HP:0001176Large hands
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001271Polyneuropathy
HP:0001297Stroke
HP:0001511Intrauterine growth retardation
HP:0001639Hypertrophic cardiomyopathy
HP:0001642Pulmonic stenosis
HP:0001680Coarctation of aorta
HP:0001833Long foot
HP:0001920Renal artery stenosis
HP:0002088Abnormal lung morphology
HP:0002092Pulmonary arterial hypertension
HP:0002650Scoliosis
HP:0002797Osteolysis
HP:0002808Kyphosis
HP:0003165Elevated circulating parathyroid hormone level
HP:0004322Short stature
HP:0004944Dilatation of the cerebral artery
HP:0007236Recurrent subcortical infarcts
HP:0007359Focal-onset seizure
HP:0007524Atypical neurofibromatosis
HP:0007850Retinal vascular proliferation
HP:0009733Glioma
HP:0009734Optic nerve glioma
HP:0010795Cerebellar glioma
HP:0010796Brainstem glioma
HP:0012492Cerebral artery stenosis
HP:0012531Pain
HP:0030692Brain neoplasm
HP:0031023Multiple mucosal neuromas
HP:0032458Narrowing of medullary canal
HP:0100008Schwannoma
HP:0100697Neurofibrosarcoma
HP:0100817Renovascular hypertension
HP:0430022Abnormality of the sphenoid sinus
HP:3000062Abnormal internal carotid artery morphology
Очень редкий (1–4%)17
HP:0001909Leukemia
HP:0002666Pheochromocytoma
HP:0002859Rhabdomyosarcoma
HP:0002863Myelodysplasia
HP:0002979Bowing of the legs
HP:0003001Glomus jugular tumor
HP:0003002Breast carcinoma
HP:0005280Depressed nasal bridge
HP:0006610Wide intermamillary distance
HP:0100252Diaphyseal dysplasia
HP:0100723Gastrointestinal stroma tumor
HP:0100775Dural ectasia
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000465Webbed neck
HP:0000494Downslanted palpebral fissures
HP:0000826Precocious puberty
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 170 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)