Aspartylglucosaminuria
ORPHA:93DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)17
HP:0000212Gingival overgrowth
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001537Umbilical hernia
HP:0001999Abnormal facial shape
HP:0002167Abnormality of speech or vocalization
HP:0002650Scoliosis
HP:0003196Short nose
HP:0004337Abnormality of amino acid metabolism
HP:0008551Microtia
HP:0012068Aspartylglucosaminuria
HP:0012471Thick vermilion border
HP:0100660Dyskinesia
HP:0100729Large face
Частый (30–79%)10
HP:0000053Macroorchidism
HP:0000158Macroglossia
HP:0000164Abnormality of the dentition
HP:0000280Coarse facial features
HP:0000670Carious teeth
HP:0000768Pectus carinatum
HP:0002684Thickened calvaria
HP:0003103Abnormal cortical bone morphology
HP:0008430Anterior beaking of lumbar vertebrae
HP:0040071Abnormal morphology of ulna
Периодический (5–29%)16
HP:0000023Inguinal hernia
HP:0000389Chronic otitis media
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001369Arthritis
HP:0001387Joint stiffness
HP:0001744Splenomegaly
HP:0001763Pes planus
HP:0002024Malabsorption
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002360Sleep abnormality
HP:0002750Delayed skeletal maturation
HP:0003468Abnormal vertebral morphology
HP:0004568Beaking of vertebral bodies
HP:0011276Vascular skin abnormality
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Australia | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.35 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)