Neurogenic arthrogryposis multiplex congenita
ORPHA:1143DiseaseAutosomal recessiveNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCYL2 | SCY1 like pseudokinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 616365 |
| COL25A1 | collagen type XXV alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 610004 |
| ERGIC1 | endoplasmic reticulum-golgi intermediate compartment 1 | Disease-causing germline mutation(s) in | gene with protein product | 617946 |
Фенотипы (HPO)33
Облигатный (100%)1
HP:0001371Flexion contracture
Очень частый (80–99%)1
HP:0003444EMG: chronic denervation signs
Частый (30–79%)9
HP:0001239Wrist flexion contracture
HP:0001284Areflexia
HP:0002987Elbow flexion contracture
HP:0003202Skeletal muscle atrophy
HP:0003484Upper limb muscle weakness
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0007340Lower limb muscle weakness
HP:0008180Mildly elevated creatine kinase
Периодический (5–29%)22
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0001357Plagiocephaly
HP:0001558Decreased fetal movement
HP:0001562Oligohydramnios
HP:0001623Breech presentation
HP:0001627Abnormal heart morphology
HP:0001838Rocker bottom foot
HP:0002058Myopathic facies
HP:0002098Respiratory distress
HP:0002380Fasciculations
HP:0002650Scoliosis
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002827Hip dislocation
HP:0003273Hip contracture
HP:0007477Abnormal dermatoglyphics
HP:0008110Equinovarus deformity
HP:0008807Acetabular dysplasia
HP:0010781Skin dimple
HP:0011968Feeding difficulties
HP:0030799Scaphocephaly
HP:0410263Brain imaging abnormality
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.3 | Europe | 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)