Congenital muscular dystrophy with cerebellar involvement
ORPHA:370959DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Disease-causing germline mutation(s) in | gene with protein product | 606822 |
| POMT1 | protein O-mannosyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 607423 |
| POMT2 | protein O-mannosyltransferase 2 | Disease-causing germline mutation(s) in | gene with protein product | 607439 |
| FKRP | fukutin related protein | Disease-causing germline mutation(s) in | gene with protein product | 606596 |
| POMK | protein O-mannose kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615247 |
| GMPPB | GDP-mannose pyrophosphorylase B | Disease-causing germline mutation(s) in | gene with protein product | 615320 |
Фенотипы (HPO)47
Очень частый (80–99%)4
HP:0003236Elevated circulating creatine kinase concentration
HP:0003560Muscular dystrophy
HP:0030046Hypoglycosylation of alpha-dystroglycan
HP:0030099Reduced muscle fiber alpha dystroglycan
Частый (30–79%)18
HP:0000158Macroglossia
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0001317Abnormal cerebellum morphology
HP:0001321Cerebellar hypoplasia
HP:0002198Dilated fourth ventricle
HP:0002282Gray matter heterotopia
HP:0002363Abnormal brainstem morphology
HP:0002365Hypoplasia of the brainstem
HP:0002938Lumbar hyperlordosis
HP:0003701Proximal muscle weakness
HP:0003707Calf muscle pseudohypertrophy
HP:0003712Skeletal muscle hypertrophy
HP:0007204Diffuse white matter abnormalities
HP:0007256Abnormal pyramidal sign
HP:0007260Type II lissencephaly
HP:0012443Abnormality of brain morphology
Периодический (5–29%)21
HP:0006955Olivopontocerebellar hypoplasia
HP:0012110Hypoplasia of the pons
HP:0000485Megalocornea
HP:0000486Strabismus
HP:0000518Cataract
HP:0000525Abnormality iris morphology
HP:0000545Myopia
HP:0000589Coloboma
HP:0000609Optic nerve hypoplasia
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001274Agenesis of corpus callosum
HP:0001347Hyperreflexia
HP:0002085Occipital encephalocele
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002169Clonus
HP:0002350Cerebellar cyst
HP:0006899Fusion of the cerebellar hemispheres
HP:0012695Decreased thalamic volume
Очень редкий (1–4%)4
HP:0000541Retinal detachment
HP:0000568Microphthalmia
HP:0000618Blindness
HP:0001638Cardiomyopathy
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)