Multiple sulfatase deficiency
ORPHA:585DiseaseAutosomal recessiveAdolescent, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)11
HP:0000505Visual impairment
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002376Developmental regression
HP:0003134Abnormality of peripheral nerve conduction
HP:0007307Rapid neurologic deterioration
HP:0008064Ichthyosis
HP:0008155Mucopolysacchariduria
Частый (30–79%)18
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000319Smooth philtrum
HP:0000407Sensorineural hearing impairment
HP:0000463Anteverted nares
HP:0000518Cataract
HP:0000574Thick eyebrow
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001387Joint stiffness
HP:0002208Coarse hair
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0007703Abnormality of retinal pigmentation
HP:0007957Corneal opacity
HP:0010059Broad hallux phalanx
HP:0011304Broad thumb
Периодический (5–29%)1
HP:0000252Microcephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 154 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)