Muscle-eye-brain disease
ORPHA:588Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CRPPA | CDP-L-ribitol pyrophosphorylase A | Disease-causing germline mutation(s) in | gene with protein product | 614631 |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | Candidate gene tested in | gene with protein product | 603590 |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Disease-causing germline mutation(s) (loss of function) 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 |
| FKTN | fukutin | Disease-causing germline mutation(s) in | gene with protein product | 607440 |
| FKRP | fukutin related protein | Disease-causing germline mutation(s) in | gene with protein product | 606596 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610194 |
| GMPPB | GDP-mannose pyrophosphorylase B | Disease-causing germline mutation(s) in | gene with protein product | 615320 |
Фенотипы (HPO)23
Очень частый (80–99%)13
HP:0000238Hydrocephalus
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000545Myopia
HP:0000648Optic atrophy
HP:0001288Gait disturbance
HP:0002167Abnormality of speech or vocalization
HP:0002353EEG abnormality
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003457EMG abnormality
HP:0100543Cognitive impairment
Частый (30–79%)6
HP:0000518Cataract
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001608Abnormality of the voice
HP:0100022Abnormality of movement
Периодический (5–29%)4
HP:0001360Holoprosencephaly
HP:0002435Meningocele
HP:0004374Hemiplegia/hemiparesis
HP:0007360Aplasia/Hypoplasia of the cerebellum
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)