GM1 gangliosidosis
ORPHA:354DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)89
Очень частый (80–99%)17
HP:0000280Coarse facial features
HP:0000457Depressed nasal ridge
HP:0000639Nystagmus
HP:0000940Abnormal diaphysis morphology
HP:0000944Abnormal metaphysis morphology
HP:0001347Hyperreflexia
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0002383Infectious encephalitis
HP:0002829Arthralgia
HP:0004345Abnormality of ganglioside metabolism
HP:0005930Abnormality of epiphysis morphology
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0100670Rough bone trabeculation
HP:0410263Brain imaging abnormality
HP:0008166Decreased beta-galactosidase activity
HP:0002011Morphological central nervous system abnormality
Частый (30–79%)33
HP:0000023Inguinal hernia
HP:0000158Macroglossia
HP:0000212Gingival overgrowth
HP:0000303Mandibular prognathia
HP:0000486Strabismus
HP:0000951Abnormality of the skin
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001337Tremor
HP:0001387Joint stiffness
HP:0002230Generalized hirsutism
HP:0002652Skeletal dysplasia
HP:0003307Hyperlordosis
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0007325Generalized dystonia
HP:0100022Abnormality of movement
HP:0100490Camptodactyly of finger
HP:0001627Abnormal heart morphology
HP:0002071Abnormality of extrapyramidal motor function
HP:0002500Abnormal cerebral white matter morphology
HP:0000924Abnormality of the skeletal system
HP:0100543Cognitive impairment
HP:0002376Developmental regression
HP:0001508Failure to thrive
HP:0001288Gait disturbance
HP:0001263Global developmental delay
HP:0001433Hepatosplenomegaly
HP:0002167Abnormality of speech or vocalization
HP:0001072Thickened skin
HP:0002317Unsteady gait
Периодический (5–29%)35
HP:0000045Abnormality of the scrotum
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000455Broad nasal tip
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0001635Congestive heart failure
HP:0002007Frontal bossing
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0005280Depressed nasal bridge
HP:0007957Corneal opacity
HP:0008046Abnormal retinal vascular morphology
HP:0010729Cherry red spot of the macula
HP:0001638Cardiomyopathy
HP:0000943Dysostosis multiplex
HP:0002015Dysphagia
HP:0001332Dystonia
HP:0011968Feeding difficulties
HP:0002020Gastroesophageal reflux
HP:0001543Gastroschisis
HP:0001290Generalized hypotonia
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0001007Hirsutism
HP:0001789Hydrops fetalis
HP:0002808Kyphosis
HP:0009826Limb undergrowth
HP:0000369Low-set ears
HP:0000160Narrow mouth
HP:0012523Oral aversion
HP:0001643Patent ductus arteriosus
HP:0000926Platyspondyly
HP:0001622Premature birth
HP:0500049Retinopathy of prematurity
HP:0001629Ventricular septal defect
Очень редкий (1–4%)4
HP:0011951Aspiration pneumonia
HP:0025013Decerebrate rigidity
HP:0040197Encephalomalacia
HP:0011471Gastrostomy tube feeding in infancy
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 27 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.9 | Brazil | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)