Congenital muscular dystrophy with intellectual disability
ORPHA:370968DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| 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 |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 603590 |
| GMPPB | GDP-mannose pyrophosphorylase B | Disease-causing germline mutation(s) in | gene with protein product | 615320 |
Фенотипы (HPO)43
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0003236Elevated circulating creatine kinase concentration
HP:0008947Floppy infant
HP:0030046Hypoglycosylation of alpha-dystroglycan
HP:0030099Reduced muscle fiber alpha dystroglycan
Частый (30–79%)10
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0002120Cerebral cortical atrophy
HP:0002828Multiple joint contractures
HP:0003325Limb-girdle muscle weakness
HP:0007015Poor gross motor coordination
HP:0008981Calf muscle hypertrophy
HP:0011968Feeding difficulties
HP:0030197Fatigable weakness of skeletal muscles
Периодический (5–29%)28
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000478Abnormality of the eye
HP:0000486Strabismus
HP:0000545Myopia
HP:0000580Pigmentary retinopathy
HP:0000707Abnormality of the nervous system
HP:0001315Reduced tendon reflexes
HP:0001320Cerebellar vermis hypoplasia
HP:0001321Cerebellar hypoplasia
HP:0002079Hypoplasia of the corpus callosum
HP:0002093Respiratory insufficiency
HP:0002119Ventriculomegaly
HP:0002465Poor speech
HP:0002505Loss of ambulation
HP:0002518Abnormal periventricular white matter morphology
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0002878Respiratory failure
HP:0003327Axial muscle weakness
HP:0003549Abnormality of connective tissue
HP:0003712Skeletal muscle hypertrophy
HP:0004637Decreased cervical spine mobility
HP:0007361Abnormality of the pons
HP:0008443Spinal deformities
HP:0010628Facial palsy
HP:0010864Intellectual disability, severe
HP:0040173Abnormality of the tongue muscle
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Not yet documented | — | Worldwide | Class only |
| Annual incidence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)