Oculopharyngodistal myopathy
ORPHA:98897DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NOTCH2NLC | notch 2 N-terminal like C | Disease-causing germline mutation(s) in | gene with protein product | 618025 |
| LRP12 | LDL receptor related protein 12 | Disease-causing germline mutation(s) in | gene with protein product | 618299 |
| GIPC1 | GIPC PDZ domain containing family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 605072 |
| ABCD3 | ATP binding cassette subfamily D member 3 | Disease-causing germline mutation(s) in | gene with protein product | 170995 |
| NUTM2B-AS1 | NUTM2B antisense RNA 1 | Disease-causing germline mutation(s) in | Non-coding RNA | 618639 |
| RILPL1 | Rab interacting lysosomal protein like 1 | Disease-causing germline mutation(s) in | gene with protein product | 614092 |
Фенотипы (HPO)36
Очень частый (80–99%)7
HP:0000301Abnormality of facial musculature
HP:0000590Progressive external ophthalmoplegia
HP:0000597Ophthalmoparesis
HP:0001824Weight loss
HP:0007838Progressive ptosis
HP:0008376Nasal, dysarthic speech
HP:0030319Weakness of facial musculature
Частый (30–79%)15
HP:0000183Tongue muscle weakness
HP:0000218High palate
HP:0001604Vocal cord paresis
HP:0002058Myopathic facies
HP:0002100Recurrent aspiration pneumonia
HP:0002705High, narrow palate
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0007149Distal upper limb amyotrophy
HP:0008756Bowing of the vocal cords
HP:0008944Distal lower limb amyotrophy
HP:0009053Distal lower limb muscle weakness
HP:0009063Progressive distal muscle weakness
HP:0031162Impaired oropharyngeal swallow response
HP:0200136Oral-pharyngeal dysphagia
HP:0430015Abnormal morphology of musculature of pharynx
Периодический (5–29%)11
HP:0001288Gait disturbance
HP:0000408Progressive sensorineural hearing impairment
HP:0001284Areflexia
HP:0002091Restrictive ventilatory defect
HP:0002505Loss of ambulation
HP:0008959Distal upper limb muscle weakness
HP:0008963Tibialis muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0009073Progressive proximal muscle weakness
HP:0030192Fatigable weakness of bulbar muscles
HP:3000005Abnormality of masseter muscle
Очень редкий (1–4%)3
HP:0008997Proximal muscle weakness in upper limbs
HP:0010550Paraplegia
HP:3000010Abnormality of orbicularis oris muscle
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)