Typical nemaline myopathy
ORPHA:171436DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены6
| 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 |
| CFL2 | cofilin 2 | Disease-causing germline mutation(s) in | gene with protein product | 601443 |
| TPM2 | tropomyosin 2 | Disease-causing germline mutation(s) in | gene with protein product | 190990 |
| NEB | nebulin | Disease-causing germline mutation(s) in | gene with protein product | 161650 |
| 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)39
Частый (30–79%)13
HP:0000218High palate
HP:0001265Hyporeflexia
HP:0001288Gait disturbance
HP:0001319Neonatal hypotonia
HP:0002093Respiratory insufficiency
HP:0003325Limb-girdle muscle weakness
HP:0003327Axial muscle weakness
HP:0003557Increased variability in muscle fiber diameter
HP:0003722Neck flexor weakness
HP:0003803Type 1 muscle fiber predominance
HP:0009027Foot dorsiflexor weakness
HP:0010628Facial palsy
HP:0030198Fatigable weakness of distal limb muscles
Периодический (5–29%)25
HP:0000275Narrow face
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000508Ptosis
HP:0000767Pectus excavatum
HP:0000774Narrow chest
HP:0001349Facial diplegia
HP:0001371Flexion contracture
HP:0001561Polyhydramnios
HP:0002375Hypokinesia
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002804Arthrogryposis multiplex congenita
HP:0002827Hip dislocation
HP:0002857Genu valgum
HP:0002877Nocturnal hypoventilation
HP:0002970Genu varum
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003306Spinal rigidity
HP:0003307Hyperlordosis
HP:0003798Nemaline bodies
HP:0011968Feeding difficulties
HP:0030196Fatigable weakness of respiratory muscles
HP:0030200Fatiguable weakness of proximal limb muscles
Очень редкий (1–4%)1
HP:0002808Kyphosis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)