Mosaic variegated aneuploidy syndrome
ORPHA:1052Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TRIP13 | thyroid hormone receptor interactor 13 | Disease-causing germline mutation(s) in | gene with protein product | 604507 |
| BUB1B | BUB1 mitotic checkpoint serine/threonine kinase B | Disease-causing germline mutation(s) in | gene with protein product | 602860 |
| CEP57 | centrosomal protein 57 | Disease-causing germline mutation(s) in | gene with protein product | 607951 |
| BUB1 | BUB1 mitotic checkpoint serine/threonine kinase | Disease-causing germline mutation(s) in | gene with protein product | 602452 |
| BUB3 | BUB3 mitotic checkpoint protein | Disease-causing germline mutation(s) in | gene with protein product | 603719 |
Фенотипы (HPO)64
Очень частый (80–99%)13
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0001305Dandy-Walker malformation
HP:0001541Ascites
HP:0001561Polyhydramnios
HP:0002119Ventriculomegaly
HP:0003560Muscular dystrophy
HP:0004322Short stature
HP:0007957Corneal opacity
HP:0010880Increased nuchal translucency
Частый (30–79%)6
HP:0000252Microcephaly
HP:0000325Triangular face
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Периодический (5–29%)45
HP:0000358Posteriorly rotated ears
HP:0000003Multicystic kidney dysplasia
HP:0000062Ambiguous genitalia
HP:0000175Cleft palate
HP:0000340Sloping forehead
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000445Wide nose
HP:0000457Depressed nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000821Hypothyroidism
HP:0000924Abnormality of the skeletal system
HP:0000929Abnormal skull morphology
HP:0001000Abnormality of skin pigmentation
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001360Holoprosencephaly
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001631Atrial septal defect
HP:0001659Aortic regurgitation
HP:0001679Abnormal aortic morphology
HP:0001680Coarctation of aorta
HP:0001682Subvalvular aortic stenosis
HP:0002007Frontal bossing
HP:0002101Abnormal lung lobation
HP:0002104Apnea
HP:0002247Duodenal atresia
HP:0002664Neoplasm
HP:0002667Nephroblastoma
HP:0002797Osteolysis
HP:0002817Abnormality of the upper limb
HP:0002859Rhabdomyosarcoma
HP:0002863Myelodysplasia
HP:0003003Colon cancer
HP:0004209Clinodactyly of the 5th finger
HP:0006721Acute lymphoblastic leukemia
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007565Multiple cafe-au-lait spots
HP:0010978Abnormality of immune system physiology
HP:0012126Stomach cancer
HP:0030680Abnormal cardiovascular system morphology
HP:0100650Vaginal neoplasm
HP:0200008Intestinal polyposis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 41 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)