Congenital fiber-type disproportion myopathy
ORPHA:2020DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MAP3K20 | mitogen-activated protein kinase kinase kinase 20 | Disease-causing germline mutation(s) in | gene with protein product | 609479 |
| ACTA1 | actin alpha 1, skeletal muscle | Disease-causing germline mutation(s) in | gene with protein product | 102610 |
| SELENON | selenoprotein N | Disease-causing germline mutation(s) in | gene with protein product | 606210 |
| TPM2 | tropomyosin 2 | Disease-causing germline mutation(s) in | gene with protein product | 190990 |
| TPM3 | tropomyosin 3 | Disease-causing germline mutation(s) in | gene with protein product | 191030 |
| MYL2 | myosin light chain 2 | Disease-causing germline mutation(s) in | gene with protein product | 160781 |
| ITGA7 | integrin subunit alpha 7 | Disease-causing germline mutation(s) in | gene with protein product | 600536 |
| HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610467 |
Фенотипы (HPO)59
Очень частый (80–99%)3
HP:0001252Hypotonia
HP:0003323Progressive muscle weakness
HP:0011807Type 1 muscle fiber atrophy
Частый (30–79%)21
HP:0000218High palate
HP:0000678Dental crowding
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001315Reduced tendon reflexes
HP:0001371Flexion contracture
HP:0001508Failure to thrive
HP:0001824Weight loss
HP:0002015Dysphagia
HP:0002058Myopathic facies
HP:0002086Abnormality of the respiratory system
HP:0002421Poor head control
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003388Easy fatigability
HP:0004347Weakness of muscles of respiration
HP:0004396Poor appetite
HP:0011842Abnormality of skeletal morphology
HP:0011968Feeding difficulties
HP:0012378Fatigue
HP:0030192Fatigable weakness of bulbar muscles
HP:0030319Weakness of facial musculature
Периодический (5–29%)35
HP:0000276Long face
HP:0000347Micrognathia
HP:0000602Ophthalmoplegia
HP:0000767Pectus excavatum
HP:0001374Congenital hip dislocation
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0001609Hoarse voice
HP:0001627Abnormal heart morphology
HP:0001648Cor pulmonale
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002205Recurrent respiratory infections
HP:0002315Headache
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0002878Respiratory failure
HP:0002987Elbow flexion contracture
HP:0003273Hip contracture
HP:0003307Hyperlordosis
HP:0003324Generalized muscle weakness
HP:0003547Shoulder girdle muscle weakness
HP:0003749Pelvic girdle muscle weakness
HP:0004878Intercostal muscle weakness
HP:0005216Impaired mastication
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0009004Hypoplasia of the musculature
HP:0009027Foot dorsiflexor weakness
HP:0011470Nasogastric tube feeding in infancy
HP:0011951Aspiration pneumonia
HP:0012416Hypercapnia
HP:0012418Hypoxemia
HP:0012785Flexion contracture of finger
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)