Severe congenital nemaline myopathy
ORPHA:171430DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ACTA1 | actin alpha 1, skeletal muscle | Disease-causing germline mutation(s) in | gene with protein product | 102610 |
| NEB | nebulin | Disease-causing germline mutation(s) in | gene with protein product | 161650 |
| KLHL40 | kelch like family member 40 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615340 |
| KLHL41 | kelch like family member 41 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607701 |
| LMOD3 | leiomodin 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616112 |
Фенотипы (HPO)43
Частый (30–79%)19
HP:0001623Breech presentation
HP:0002015Dysphagia
HP:0002098Respiratory distress
HP:0002375Hypokinesia
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0003327Axial muscle weakness
HP:0003798Nemaline bodies
HP:0003803Type 1 muscle fiber predominance
HP:0005855Multiple prenatal fractures
HP:0006829Severe muscular hypotonia
HP:0009025Increased connective tissue
HP:0010628Facial palsy
HP:0000765Abnormal thorax morphology
HP:0001270Motor delay
HP:0001319Neonatal hypotonia
HP:0001371Flexion contracture
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
Периодический (5–29%)24
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000508Ptosis
HP:0000602Ophthalmoplegia
HP:0000775Abnormality of the diaphragm
HP:0000883Thin ribs
HP:0001181Adducted thumb
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0001349Facial diplegia
HP:0001622Premature birth
HP:0001640Cardiomegaly
HP:0001644Dilated cardiomyopathy
HP:0001695Cardiac arrest
HP:0001762Talipes equinovarus
HP:0002089Pulmonary hypoplasia
HP:0002527Falls
HP:0002650Scoliosis
HP:0002804Arthrogryposis multiplex congenita
HP:0007514Edema of the dorsum of hands
HP:0008872Feeding difficulties in infancy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)