Walker-Warburg syndrome
ORPHA:899DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены14
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL4A1 | collagen type IV alpha 1 chain | Candidate gene tested in | gene with protein product | 120130 |
| 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) (loss of function) in | gene with protein product | 607423 |
| POMT2 | protein O-mannosyltransferase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607439 |
| FKTN | fukutin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607440 |
| FKRP | fukutin related protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606596 |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 603590 |
| DAG1 | dystroglycan 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 128239 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614631 |
| POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614828 |
| RXYLT1 | ribitol xylosyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605862 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610194 |
| B4GAT1 | beta-1,4-glucuronyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605517 |
| POMK | protein O-mannose kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615247 |
Фенотипы (HPO)51
Очень частый (80–99%)30
HP:0001284Areflexia
HP:0001302Pachygyria
HP:0001321Cerebellar hypoplasia
HP:0001324Muscle weakness
HP:0001328Specific learning disability
HP:0001339Lissencephaly
HP:0001460Aplasia/Hypoplasia involving the skeletal musculature
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002269Abnormality of neuronal migration
HP:0002334Abnormality of the cerebellar vermis
HP:0002536Abnormal cortical gyration
HP:0003202Skeletal muscle atrophy
HP:0003560Muscular dystrophy
HP:0007731Chorioretinal dysplasia
HP:0007973Retinal dysplasia
HP:0010508Metatarsus valgus
HP:0012400Abnormal aldolase level
HP:0040081Abnormal circulating creatine kinase concentration
HP:0045040Abnormal lactate dehydrogenase activity
HP:0000238Hydrocephalus
HP:0000541Retinal detachment
HP:0000556Retinal dystrophy
HP:0000587Abnormal optic nerve morphology
HP:0000648Optic atrophy
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001302Pachygyria
Частый (30–79%)10
HP:0000028Cryptorchidism
HP:0000256Macrocephaly
HP:0000501Glaucoma
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001331Absent septum pellucidum
HP:0007957Corneal opacity
HP:0008736Hypoplasia of penis
Периодический (5–29%)11
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000252Microcephaly
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000482Microcornea
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0001250Seizure
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.03 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.65 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Italy | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)