Childhood-onset nemaline myopathy
ORPHA:171439DiseaseAutosomal dominantChildhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TPM2 | tropomyosin 2 | Disease-causing germline mutation(s) in | gene with protein product | 190990 |
| MYPN | myopalladin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608517 |
| ACTA1 | actin alpha 1, skeletal muscle | Disease-causing germline mutation(s) in | gene with protein product | 102610 |
| TPM3 | tropomyosin 3 | Disease-causing germline mutation(s) in | gene with protein product | 191030 |
| NEB | nebulin | Disease-causing germline mutation(s) in | gene with protein product | 161650 |
| KBTBD13 | kelch repeat and BTB domain containing 13 | Disease-causing germline mutation(s) in | gene with protein product | 613727 |
| KLHL41 | kelch like family member 41 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607701 |
Фенотипы (HPO)46
Очень частый (80–99%)3
HP:0003198Myopathy
HP:0003458EMG: myopathic abnormalities
HP:0003798Nemaline bodies
Частый (30–79%)14
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0002067Bradykinesia
HP:0002068Neuromuscular dysphagia
HP:0002312Clumsiness
HP:0003306Spinal rigidity
HP:0003546Exercise intolerance
HP:0003552Muscle stiffness
HP:0003557Increased variability in muscle fiber diameter
HP:0003690Limb muscle weakness
HP:0003803Type 1 muscle fiber predominance
HP:0009055Generalized limb muscle atrophy
HP:0009058Increased muscle lipid content
Периодический (5–29%)25
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000467Neck muscle weakness
HP:0000774Narrow chest
HP:0001284Areflexia
HP:0001290Generalized hypotonia
HP:0001349Facial diplegia
HP:0001371Flexion contracture
HP:0001533Slender build
HP:0001623Breech presentation
HP:0001638Cardiomyopathy
HP:0001761Pes cavus
HP:0001989Fetal akinesia sequence
HP:0002483Bulbar signs
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002792Reduced vital capacity
HP:0003691Scapular winging
HP:0008180Mildly elevated creatine kinase
HP:0011968Feeding difficulties
HP:0030192Fatigable weakness of bulbar muscles
HP:0000218High palate
HP:0000275Narrow face
Очень редкий (1–4%)3
HP:0000508Ptosis
HP:0001561Polyhydramnios
HP:0002804Arthrogryposis multiplex congenita
Исключён (0%)1
HP:0007010Poor fine motor coordination
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)