Tay-Sachs disease
ORPHA:845DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)69
Очень частый (80–99%)6
HP:0001324Muscle weakness
HP:0002191Progressive spasticity
HP:0003202Skeletal muscle atrophy
HP:0003495GM2-ganglioside accumulation
HP:0010969Abnormality of glycolipid metabolism
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)24
HP:0000505Visual impairment
HP:0000708Atypical behavior
HP:0000736Short attention span
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002171Gliosis
HP:0002172Postural instability
HP:0002311Incoordination
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0002376Developmental regression
HP:0002380Fasciculations
HP:0002460Distal muscle weakness
HP:0003394Muscle spasm
HP:0003551Difficulty climbing stairs
HP:0007010Poor fine motor coordination
HP:0007103Hypointensity of cerebral white matter on MRI
HP:0007340Lower limb muscle weakness
HP:0009050Quadriceps muscle atrophy
HP:0010729Cherry red spot of the macula
HP:0011951Aspiration pneumonia
HP:0012696Abnormal thalamic MRI signal intensity
Периодический (5–29%)33
HP:0000496Abnormality of eye movement
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0000709Psychosis
HP:0000716Depression
HP:0000739Anxiety
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001337Tremor
HP:0001344Absent speech
HP:0001377Limited elbow extension
HP:0002119Ventriculomegaly
HP:0002267Exaggerated startle response
HP:0002283Global brain atrophy
HP:0002307Drooling
HP:0002354Memory impairment
HP:0002384Focal impaired awareness seizure
HP:0002540Inability to walk
HP:0003066Limited knee extension
HP:0004302Functional motor deficit
HP:0004481Progressive macrocephaly
HP:0008959Distal upper limb muscle weakness
HP:0009088Speech articulation difficulties
HP:0011147Typical absence seizure
HP:0011448Ankle clonus
HP:0011471Gastrostomy tube feeding in infancy
HP:0012049Laryngeal dystonia
HP:0012515Hip flexor weakness
HP:0100754Mania
Очень редкий (1–4%)5
HP:0000365Hearing impairment
HP:0000826Precocious puberty
HP:0003333Increased serum beta-hexosaminidase
HP:0025013Decerebrate rigidity
HP:0031358Vegetative state
Исключён (0%)1
HP:0001433Hepatosplenomegaly
Эпидемиология14
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 27.8 | Specific population | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.5 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.13 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.41 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 | Canada | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 | United Arab Emirates | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 | Turkey | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 | Sweden | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)