Marinesco-Sjögren syndrome
ORPHA:559DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)20
HP:0000135Hypogonadism
HP:0000486Strabismus
HP:0000518Cataract
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0001328Specific learning disability
HP:0001460Aplasia/Hypoplasia involving the skeletal musculature
HP:0001618Dysphonia
HP:0002167Abnormality of speech or vocalization
HP:0002334Abnormality of the cerebellar vermis
HP:0003198Myopathy
HP:0003241External genital hypoplasia
HP:0003510Severe short stature
HP:0012400Abnormal aldolase level
HP:0040081Abnormal circulating creatine kinase concentration
HP:0045040Abnormal lactate dehydrogenase activity
Частый (30–79%)20
HP:0000639Nystagmus
HP:0000768Pectus carinatum
HP:0001156Brachydactyly
HP:0001167Abnormality of finger
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001385Hip dysplasia
HP:0002063Rigidity
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002827Hip dislocation
HP:0003202Skeletal muscle atrophy
HP:0003552Muscle stiffness
HP:0003560Muscular dystrophy
HP:0004279Short palm
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0005916Abnormal metacarpal morphology
HP:0010508Metatarsus valgus
HP:0010547Muscle flaccidity
HP:0100660Dyskinesia
Периодический (5–29%)5
HP:0000252Microcephaly
HP:0000648Optic atrophy
HP:0001265Hyporeflexia
HP:0001284Areflexia
HP:0009830Peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)