GM1 gangliosidosis type 1
ORPHA:79255Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)53
Облигатный (100%)1
HP:0008166Decreased beta-galactosidase activity
Очень частый (80–99%)12
HP:0000365Hearing impairment
HP:0000618Blindness
HP:0000707Abnormality of the nervous system
HP:0000924Abnormality of the skeletal system
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001433Hepatosplenomegaly
HP:0001999Abnormal facial shape
HP:0002376Developmental regression
HP:0003541Urinary glycosaminoglycan excretion
HP:0008947Floppy infant
HP:0410346Increased urinary galactosylated oligosaccharide
Частый (30–79%)10
HP:0000943Dysostosis multiplex
HP:0001257Spasticity
HP:0001638Cardiomyopathy
HP:0002267Exaggerated startle response
HP:0002506Diffuse cerebral atrophy
HP:0002652Skeletal dysplasia
HP:0007204Diffuse white matter abnormalities
HP:0010729Cherry red spot of the macula
HP:0011951Aspiration pneumonia
HP:0012753T2 hypointense basal ganglia
Периодический (5–29%)29
HP:0000455Broad nasal tip
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0001007Hirsutism
HP:0001072Thickened skin
HP:0001230Broad metacarpals
HP:0001250Seizure
HP:0001789Hydrops fetalis
HP:0000158Macroglossia
HP:0000212Gingival overgrowth
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0002007Frontal bossing
HP:0002684Thickened calvaria
HP:0002690Large sella turcica
HP:0002869Flared iliac wings
HP:0003026Short long bone
HP:0004562Beaking of vertebral bodies T12-L3
HP:0005280Depressed nasal bridge
HP:0006371Broad long bone diaphyses
HP:0008479Hypoplastic vertebral bodies
HP:0008807Acetabular dysplasia
HP:0008812Flattened femoral head
HP:0011968Feeding difficulties
HP:0012307Spatulate ribs
HP:0025013Decerebrate rigidity
HP:0100767Abnormality of the placenta
HP:3000050Abnormality of odontoid tissue
Очень редкий (1–4%)1
HP:0001511Intrauterine growth retardation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)