Weaver syndrome
ORPHA:3447Malformation syndromeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NSD1 | nuclear receptor binding SET domain protein 1 | Candidate gene tested in | gene with protein product | 606681 |
| EZH2 | enhancer of zeste 2 polycomb repressive complex 2 subunit | Disease-causing germline mutation(s) in | gene with protein product | 601573 |
| SUZ12 | SUZ12 polycomb repressive complex 2 subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606245 |
Фенотипы (HPO)42
Очень частый (80–99%)22
HP:0005616Accelerated skeletal maturation
HP:0010300Abnormally low-pitched voice
HP:0000098Tall stature
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000944Abnormal metaphysis morphology
HP:0001231Abnormal fingernail morphology
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001582Redundant skin
HP:0001609Hoarse voice
HP:0001800Hypoplastic toenails
HP:0001814Deep-set nails
HP:0001816Thin nail
HP:0000358Posteriorly rotated ears
Частый (30–79%)10
HP:0000023Inguinal hernia
HP:0000311Round face
HP:0001176Large hands
HP:0001387Joint stiffness
HP:0001769Broad foot
HP:0002002Deep philtrum
HP:0002213Fine hair
HP:0008872Feeding difficulties in infancy
HP:0011304Broad thumb
HP:0100490Camptodactyly of finger
Периодический (5–29%)10
HP:0000028Cryptorchidism
HP:0000494Downslanted palpebral fissures
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0001852Sandal gap
HP:0002650Scoliosis
HP:0006101Finger syndactyly
HP:0008736Hypoplasia of penis
HP:0030680Abnormal cardiovascular system morphology
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 48 | 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)