Paternal uniparental disomy of chromosome 1 syndrome
ORPHA:251004Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)29
Частый (30–79%)29
HP:0000093Proteinuria
HP:0000105Enlarged kidney
HP:0000486Strabismus
HP:0000529Progressive visual loss
HP:0000613Photophobia
HP:0000682Abnormality of dental enamel
HP:0000793Membranoproliferative glomerulonephritis
HP:0000822Hypertension
HP:0000823Delayed puberty
HP:0000970Anhidrosis
HP:0001250Seizure
HP:0001319Neonatal hypotonia
HP:0001336Myoclonus
HP:0001363Craniosynostosis
HP:0001513Obesity
HP:0002591Polyphagia
HP:0002757Recurrent fractures
HP:0003072Hypercalcemia
HP:0003138Increased blood urea nitrogen
HP:0004322Short stature
HP:0004802Episodic hemolytic anemia
HP:0007021Pain insensitivity
HP:0007272Progressive psychomotor deterioration
HP:0007641Dyschromatopsia
HP:0007754Macular dystrophy
HP:0008066Abnormal blistering of the skin
HP:0012444Brain atrophy
HP:0012587Macroscopic hematuria
HP:0030612Abnormal retinal morphology on macular OCT
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)