Intermediate nemaline myopathy
ORPHA:171433DiseaseAutosomal dominant, Autosomal recessiveNeonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TPM3 | tropomyosin 3 | Disease-causing germline mutation(s) in | gene with protein product | 191030 |
| 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 |
| KLHL41 | kelch like family member 41 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607701 |
Фенотипы (HPO)29
Очень частый (80–99%)3
HP:0003324Generalized muscle weakness
HP:0003798Nemaline bodies
HP:0006829Severe muscular hypotonia
Частый (30–79%)16
HP:0000765Abnormal thorax morphology
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0001371Flexion contracture
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0002015Dysphagia
HP:0002058Myopathic facies
HP:0002375Hypokinesia
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0003458EMG: myopathic abnormalities
HP:0003803Type 1 muscle fiber predominance
HP:0005855Multiple prenatal fractures
HP:0010628Facial palsy
Периодический (5–29%)8
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000602Ophthalmoplegia
HP:0001284Areflexia
HP:0001349Facial diplegia
HP:0001622Premature birth
HP:0002705High, narrow palate
Очень редкий (1–4%)1
HP:0002804Arthrogryposis multiplex congenita
Исключён (0%)1
HP:0001638Cardiomyopathy
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)