Mucolipidosis type IV
ORPHA:578DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)13
HP:0000486Strabismus
HP:0000488Retinopathy
HP:0000613Photophobia
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001288Gait disturbance
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0004345Abnormality of ganglioside metabolism
HP:0007281Developmental stagnation
HP:0007957Corneal opacity
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011020Abnormality of mucopolysaccharide metabolism
Частый (30–79%)4
HP:0000639Nystagmus
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0002353EEG abnormality
Периодический (5–29%)10
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000512Abnormal electroretinogram
HP:0000691Microdontia
HP:0000982Palmoplantar keratoderma
HP:0002816Genu recurvatum
HP:0004422Biparietal narrowing
HP:0005105Abnormal nasal morphology
HP:0007703Abnormality of retinal pigmentation
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)