Sialuria
ORPHA:3166DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)35
HP:0000219Thin upper lip vermilion
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000629Periorbital fullness
HP:0000943Dysostosis multiplex
HP:0001081Cholelithiasis
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001290Generalized hypotonia
HP:0001382Joint hypermobility
HP:0001433Hepatosplenomegaly
HP:0001609Hoarse voice
HP:0001847Long hallux
HP:0001939Abnormality of metabolism/homeostasis
HP:0001999Abnormal facial shape
HP:0002240Hepatomegaly
HP:0002354Memory impairment
HP:0002474Expressive language delay
HP:0002487Hyperkinetic movements
HP:0002574Episodic abdominal pain
HP:0002705High, narrow palate
HP:0002781Upper airway obstruction
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003645Prolonged partial thromboplastin time
HP:00046912-3 toe syndactyly
HP:0007018Attention deficit hyperactivity disorder
HP:0008151Prolonged prothrombin time
HP:0008443Spinal deformities
HP:0010535Sleep apnea
HP:0011220Prominent forehead
HP:0012103Abnormality of the mitochondrion
Периодический (5–29%)1
HP:0001263Global developmental delay
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)